O+G Flashcards

1
Q

Bartholin cysts are

A

Cystic dilatation of Bartholins glands.
Clinical: Most patients asx. Cyst formation in reproductive years. Secondary infection and abscess not uncommon. Rarely, malginancy can arise.

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2
Q

Bartholin cyst imaging characteristics:

A

Smooth marginated round vulvular cyst
Thin wall without significant inflammatory change
Thin septations may be present

Posterolateral aspect of the vaginal introitus, within superficial perineal pouch, below perineal membrane/PS
Typically solitary, can be multiple/bilateral

CT: Low density, non enhancing.
Uniformly thin wall, minimal enhancement

MRI
T1: Hypointense, but dependant on protein/haemorrhage
T2: Homogenous high signal, heterogenous if complicated
PCT1: no central enhancement. Thickened enhancing wall suggests infection. Nodular enhancement ?malignant transformation (rare)

US: thin walled anechoic vulvular cyst
no colour flow

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3
Q

Bartholin cyst embryology

A

Glands arise from urogenital sinus
Analogous to male Cowper (bulbourethral) glands

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4
Q

Bartholin cyst differentials

A

Bartholinitis: infection of the cyst, thickened enhancing wall with adjacent inflammatory change

Skene gland cyst: cystic dilatation of a Skene gland
Positioned anteriorly in vaginal introitus at the external urethral meatus

Gartner duct cyst: Simple cyst arising from anterolateral vaginal wall
Typically above the level of the pubic symphysis/perineal membrane

Epidermal inclusion cyst: SC lesion, most commonly from labia majora. often secondary to trauma or surgery

Urethral diverticulum: Cystic lesion margin of the mid urethra. May communicate with the lumen. Above the level of PS/perineal membrane

Adenocarcinoma of Bartholin’s gland: Significant enhancing soft tissue component

Periurethral collagen injection

Nabothian cyst: Endocervical canal

Urethral caruncle: Benign excrescences of urethral mucosa, postmenopausal

Prolapsed utererocoele: childhood mass eccentric to urethral meatus

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5
Q

Bartholin cyst clinical issues

A

Presentation: Asymptomatic, palpable vulvar mass, dyspareunia, pain/signs of infection

Demographics: Reproductive years, 20-30s. Glands involute post
2% of women in their lifetime

Prognosis: Resolve spontaneously, secondary infection
Malignant transformation: 40% adeno, 40% squamous cell. New cyst after 40 is suspicious

Treatment: Small asx; no treatment
If symptomatic; marsupialisation
other: resection, fistulisation, aspiration, ablation

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6
Q

Bartholinitis is

A

Infection of dilated/obstructed Bartholin gland, leads to abscess formation
located along the posterolateral vaginal introitus in superficial perineal pouch, below level of the pubic symphysis/perineal membrane
Can be bilateral, multilocular

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7
Q

Bartholinitis imaging characteristics

A

CT: Low density, rim enhancement
Peripheral enhancement may be slightly irregular
May see thin internal enhancing septation
Adjacent inflammatory fat stranding

MRI
T1: Well marginated, variable intensity
T2: High signal intensity uni or multilocular cyst
T1C+FS: thickened irregular enhancing wall with surrounding inflammation

US: introital cyst transperineal/translabial US
Increased peripheral Doppler flow
May have septations, internal debris

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8
Q

Nabothian cysts are

A

Mucinous endocervical gland cysts arising as a result of obstruction secondary to overgrowth of the squamous epithelium at their neck.
Tunnel clusters: complex multicystic dilation of endocervical glands

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9
Q

Nabothian cyst imaging characteristics

A

Circumscribed, unilocular, superficial cysts of the cervix
Typically simple and superficial but can be complex and invade cervical stroma
Most are few mm in diamter
Round or oval, single or multiple, can be numerous

CT: non-enhancing, hypodense to cervical lesion

MRI:
T1: Intermediate to hyperintense (mucinous)
T2: hyperintense, circumscribed, superficial

US: Anechoic, circumscribed lesion with posterior acoustic enhancement

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10
Q

Nabothian cyst differentials

A

Adenoma malignum: low-grade mucinous carcinoma affecting deep endocervical glands. Multilocular cystic masses. Enhancing solid components. Deeply penetrating. Copious watery vaginal discharge

Squamous cell carcinoma: Solid mass of cervix. Necrotic regions but solid elements predominate

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11
Q

Nabothian cysts clinical

A

usually asymptomatic
Tunnel clusters almost always occur in multigravid women >30
The majority require no treatment
Symptomatic; cyst drainage, cryosurgery, conization

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12
Q

Endocervical polyp imaging characteristics

A

Small pearl shaped mass
Feeding vessel in stalk on colour imaging
Originates from cervical canal, may protrude through external os and prolapse into canal

Usually between 2-30mm
Giant polyps are rare

CT
Soft tissue mass, similar attenuation to myometrium

MR
T1: low intensity within cystic spaces of polyp
T2: low intensity mass surrounded by high intensity fluid. large multicystic with high signal intensity fluid filling canal
DWI: no restriction
C+: Brisk enhancement, similar to myometrium

US
Echogenic mass within canal
Thickening of canal +/- cystic change
Central feeding vessel in stalk
Well defined echogenic structure in endocervix
Surrounding fluid may be present
May have cystic spaces
Sonohystogram: Smoothly marginated mass projecting off stalk

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13
Q

Endocervical polyp differentials

A

Cervical malignancy: Cannot differentiate from benign vs malignant containing polyp.
Cervical malignancy may invade underlying cervical tissue

Cervical leiomyoma: 10% of fibroid. Usually submucosally or subserosally but may be polypoid

Blood clot: no vascularity, will not enhance. Should pass over time.

Endometrial polyp or fibroid: Large enough to prolapse through external cervical os. tend to be polypoid with broad base.

Sarcoma botryoides: extremely rare, adolescents

Mullerian adenosarcoma: extremely rare

Uterine epithelioid endometrial stromal sarcoma: also rare

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14
Q

Endocervical polyp pathology

A

Etiology
Tamoxifen use
Other: multiparity, chronic cervicitis, foreign bodies, estrogen secretion
Focal hyperplastic protrusions of endocervical folds
Develop dysplasia and in situ or invasive carcinoma <1%

Gross
Usually pedunculated, may be sessile
Soft, smooth, red or purple
Few to 30mm

Microscopic
Classified according to the preponderance of tissue component: mucosal, fibrous, vascular, mixed endocervical/endometrial, mesodermal stromal
Cystically dilated endocervical glands
Large no. of blood vessels at surface
Inflammatory infiltrate 80%

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15
Q

Cervical carcinoma clinical

A

Third most common gynae malignancy
Typically presents in younger women with an average age of onset around 45 years

Risk factors:
HPV (not for clear cell or mesonephric)
Multiple sexual partners or male partner with multiple partners
Young age of first intercourse
High parity
Immunosuppression
HLA subtypes
Oral contraceptives
nicotine/smoking (not adeno)

Presentation:
Vaginal bleeding, discharge, abnormal screening

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16
Q

Cervical carcinoma pathology

A

Thought to arise from the transformation of cervical intraepithelial neoplasia

Histological types
Squamous: vast majority, HPV exposure
Adenocarcinoma: rarer. Subtypes: clear cell, endometrioid, mucinous, serous, mesonephric
Neuroendocrine: small cell, rare
Adenosquamous, rare

Squamous arise from the squamocolumnar junction. Situated at the ectocervix in younger patients and regresses into the endocervical canal with age

Adenocarcinomas arise from the endocervix

Prognosis
5 yr survival 92% stage 1 and 17% stage IV

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17
Q

Cervical carcinoma imaging characteristics

A

US
Hypoechoic, heterogeneous mass
May show increased vascularity on colour doppler

CT
Useful in assessing advanced disease, particularly adenopathy
also monitoring mets, planning of radiation port placement, guiding bx
Can be hypo or isoenhancing to normal stroma

MRI
Normal low signal cervical stroma provides intrinsic contrast for the high signal tumour
T1: usually isointense to pelvic muslces
T2: Hyperintense relative to stroma
C+: not routine, can be helpful for small tumours. high signal relative to stroma

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18
Q

Cervical carcinoma staging

A

FIGO or AJCC https://radiopaedia.org/articles/cervical-cancer-staging-1

FIGO 2018
1. confined to the cervix
- 1a1 0-3mm depth
- 1a2 3-5
- 1b1 5-20
- 1b2 20-40
- 1b3 >40

  1. beyond the uterus but not extended to lower third of the vagina or pelvic wall
    - 2a1 upper 2/3 of vagina without parametrial <40
    - 2a2 same >40
    - 2b with parametrial but not wall
  2. involves lower third of the vagina, +/- pelvic wall +/- hydronephhrosis +/- pelvic/paraaortic nodes
    - 3a lower third no wall
    - 3b pelvic wall and/or hydronephrosis
    - 3c pelvic or paraaortic nodes
  3. beyond true pelvis or mucosa of bladder or rectum
    - 4a1 adjacent organs
    - 4a2 distant organs
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19
Q

Mullerian duct anomalies are

A

Congenital abnormalities that occur when Mullerian/paramesonephric ducts dont develop correctrly.

Result may be complete agenesis, defective vertical or lateral fusion, or resorption failure

1-5% of women
majority asymptomatic, can present with miscarriages and infertility
Obstruction - abdominal mass and dysmenorrhoea
Delayed treatment - potentially infertility

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20
Q

Mullerian anomaly subtypes

A

Agenesis 10%
Arcuate 7%
Unicornuate 15%

Duplication
Didelphys 7.5%
Bicornuate 25%
Septate 45%

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21
Q

Mullerian anomaly associations

A

Renal anomalies; agenesis, crossed fused ectopic, duplex

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22
Q

Uterine agenesis is

A

Class 1 Mullerian duct anomaly where there is the complete absence of uterine tissue above the vagina

Agenesis-hypoplasia spectrum accounts for 10-15% of MDA

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23
Q

Uterine agenesis pathology

A

Clinical
Primary amenorrhea, normal hormonal levels with fully functional gonads

Path
Complete absence of the Mullerian ducts; Mayer Rokitansky Kuster Hauser MRKH syndrome

Associations
Renal tract anomalies
Vertebral anomalies

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24
Q

Unicornuate uterus is

A

Class 2 Mullerian duct anomaly characterised by a banana-shaped uterus usually draining into a single fallopian tube

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25
Q

Unicornuate uterus pathology

A

Failure of one of the ducts to elongate while the other develops naturally. Predominance on the right. May or may not have a rudimentary horn

Subclassification
A: Rudimentary horn
- A1: endometrium
- - A1a: communicating 10%
- - A1b: non communicating 22%
- A2: Controlateral horn has no endometrial cavity 33%
B: No horn 35%

Associations
Renal abnormalities; more common with unicornuate than the others, 40% of cases. Always ipsilateral to the rudimentary horn
Cryptomenorrhea
Primary infertility

Treatment and prognosis
Second worst obstetric outcome, with septate worst
Spontaneous abortion rates 41-62%

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26
Q

Unicornuate uterus imaging characteristics

A

HSG:
Fusiform banana shape
May have a small cavitation in type a
Drains to single fallopian tube

US
Difficult to detect on US, may be tapering

MRI
Curved and elongated uterus; banana shaped external contour
Reduced volume
Asymmetric configuration
Normal myometrial zonal anatomy

May be difficult to tell from bicorunate with only one side cannulated

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27
Q

Arcuate uterus is

A

Mild variant shape of the uterus, mild indentation of the endometrium at the uterine fundus. Least associated with reproductive failure.

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28
Q

Arcuate uterus pathology

A

Mild fundal indentation of the endometrium. Most common anomaly, 3.9% population. Exists on a spectrum with septate uterus, from least to most resorption of the uterovaginal septum

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29
Q

Arcuate uterus imaging characteristics

A

Normal fundal contour
No horn division
Smooth indentation of the fundal endometrial canal, <1cm
Increased transverse diameters

Fluoroscopy
Opacification of the cavity, single cavity, broad saddle shaped indentation of the uterine fundus

US
Normal external contour
Broad smooth indentation on the fundal endometrium

MRI
Normal external uterine contour. Myometrial fundal indentation is smooth and broad. Isointense to normal myometrium

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30
Q

Arcuate uterus differentials

A

Septate: Exist on a spectrum from most to least resorptive

Bicornuate: Arcuate has normal or slightly indented external fundal contour. Bicornuate has a more marked fundal indentation <5mm above the level of the uterine horns

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31
Q

Uterus didelphys is

A

Class III Mullerian duct anomaly where there is complete duplication of uterine horns as well as duplication of the cervix with no communication

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32
Q

Uterine didelphys pathology

A

Associations
Renal agenesis (helyn werner wunderlich)
Vaginal septum, including transverse septum

Along with unicornuate, greatest impact on reproductive performance

Pathology
Failed ductal fusion between 12-16th week of pregnancy
Characterised by two symmetric widely divergent uterine horns and two cervices
Uterine volume in each is reduced
Increased incidence of fertility issues; pregnancy to term 20%, third aborted, half premature. Only 40% result in living infants

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33
Q

Uterine didelphys imaging characteristics

A

Two widely spaced uterine corpora, each with a single Fallopian tube. Separate horns with large fundal cleft (distinct from septate)

HSG
Two separate endocervical canals that open into separate fusiform endometrial cavities with no communication between horns
If associated with longitudinal vaginal septum only one cervical os may be depicted and it may be cannulated with the endometrial configuration mimicking a unicornuate uterus

US
Separate divergent uterine horns identified with a large fundal cleft. Endometrial cavities are uniformly separate with no evidence of communication. Two separate cervices need to be documents.

MRI
Two separate uteri with widely divergent apices. Two separate cervices. Usually an upper vaginal longitudinal septum. Normal zonal anatomy is preserved.

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34
Q

Bicornuate uterus is

A

Class IV Mullerian duct anomaly, type of duplication anomaly. Concave or heart shaped external contour, fundal cleft >1cm deep. Caudally fused symmetric uterine cavities with some degree of communication.

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35
Q

Bicornuate uterus pathology

A

Clinical
Incidentally often
Early pregnancy loss and cervical incompetence

Associations
Longitudinal vaginal septum in 25%
Abnormalities of the renal tract

Pathology
Abnormal development of the paramesonephric ducts. Partial failure of fusion resulting in uterus divided into two horns

Subtypes; according to cervical canal
Bicollis: two cervical canals; central myometrium extends to the external cervical os
Unicollis: one cervical canal; central myometrium extends to the internal cervical os

Treatment and prognosis
In recurrent pregnancy loss; strassman metroplasty could be considered
In cervical incompetence; placement of cervical cerclage may increase fetal survival rates

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36
Q

Bicornuate uterus imaging characteristics

A

External contour is concave or heart-shaped, horns are divergent
Fundal cleft is typically more than 1cm deep and the intercornual distance is widened
Uterus seen as comprising caudally fused symmetric uterine cavities with some degree of communication, usually at the isthmus. Angle between the horns usually more than 105 degrees

HSG
Divided uterus, difficult to differentiate between septate and bicornuate since the uterine fundal contour is not visible

MRI
Helps confirm anatomy by showing a deep >1cm fundal cleft in the outer uterine contour and an intercornual distance of >4cm. Normal zonal anatomy

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37
Q

Septate uterus is

A

Class V Mullerian duct anomaly. Type of duplication anomaly resulting from partial or complete failure of resorption of the uterovaginal septum after fusion of the paramesonephric ducts.

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38
Q

Septate uterus pathology

A

Commonest. Type V.
Most common anomaly associated with subfertility, preterm labour, reproductive failure.

Partial or complete failure of resorption of the uterovaginal septum after fusion of the paramesonephric ducts. Septum is usually fibrous but can have some muscle

Associations: concurrent renal anomalies

Treatment
Metroplasty

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39
Q

Septate uterus subtypes

A

Partial: endometrial canal but not the cervix.

Complete: extends either to internal or external os

Septate uterus/vagina: extends into vagina

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40
Q

Septate uterus imaging characteristics

A

Variable external contour, convex, flat or mildly (<1cm) concave.
Acute angle between uterine cavities.
Endometrial canals are completely separated by tissue isoechoic to myometrium with extension to endocervical canal.

HSG:
Inaccurate for septate vs bicornuate. Angle of less than 75 between the uterine horns suggestive of septate, 105 suggestive of bicornuate

US
Endometrial stripe separated at the fundus by the intermediate echo septum. Extends to cervix in complete type. May show vascularity in septum.

MRI
Normal uterus size. Each endometrial cavity smaller than normal cavity. Variable septum signal

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41
Q

Septate uterus differentials

A

Bicornuate: shape of external contour

Arcuate: small myometrial indentation with normal contour

Thick adhesion

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42
Q

Haematometrocolpos is

A

Distension of the uterus and vagina with blood (metra uterus colpo ovary)

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43
Q

Haematometrocolpos imaging characteristics

A

Echgenic fluid within distended uterus +/- vagina

US
distended uterus/vaginal cavities. HM thick walled, HC thin walled.
Mixed echogenicity
No flow (if flow mass)
3D ?MDA

MR
T1 iso to hyper
T2 Hyper

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44
Q

Haematometrocolpos differentials

A

Pyometra: fever WCC. clinical dx

Endometritis: Post instrumentation/childbirth. Gas bubbles in endometrial cavity. Not associated with amenorrea, does not involve vagina

Muco/hydro metrocolpos

Gestational trophoblastic disease: Complete mole snowstorm appearance, not echogenic fluid. Invasive mole typically hypervascular and invading myometrium. Does not involve vagina

RPOC

Complex adnexal lesion

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45
Q

Haematometrocolpos causes

A

Imperforate hymen (most common)

MDA: vaginal septum (TV/Vert), vaginal agenesis, cervical agenesis, uterus didelphys with obstructed hemivagina

Cloacal malformation: confluence of rectum, vagina, urethra. Often septated/bilobed.

Cervical/vaginal stenosis: post radiation therapy, post recon surgery, chronc GVHD

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46
Q

Endometritis is

A

Ascending polymicrobial infection of the cervic and uterus

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47
Q

Endometritis imaging characteristics

A

Increasing fluid and gas in endometrial cavity in postpartum patient with fever and pelvic tenderness. Findings can be normal frequently

CT
Thickening, fluid gas
parametrial inflmmation/collection/pyosalpinx

MRI
Thickened endometrial cavity, fluid or gas
Contrast enhanced MR for collections

US
uterus may be enlarged, tender
thickened heterogenous endometrium. Endometrial fluid and echoes.
Adnexal collections
Increased flow

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48
Q

Endometritis pathology

A

Post partum usually polymicrobial
Not related to pancrea; chlamydia, gonorrhea, genital mycoplasms, aerobic/anaerobic vaginal flora

Clinical
Enlarged, tender post partum uterus. Fever WCC/
Non post partum: lower abd pain, dysparuenia, fever, back pain and vomiting. Adnexal tenderness on bimanual

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49
Q

Endometritis differentials

A

RPOC: Echogenic endometrial mass. High vel low resistance flow doppler.

Clot and debris

Normal gas in cavity

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50
Q

Gartner duct cyst is

A

Embryologic mesonephric duct remnant. Simple anterolateral upper vaginal wall cyst.

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51
Q

Gartner duct imaging characteristics

A

Simple appearing cyst. Anterolateral upper vaginal wall. Above PS/perineal membrane

US
Simple anechoic vaginal wall cyst.
May have internal echoes/debris
Peripheral Doppler flow with inflammation/infection

CT
Low attenuation non enhancing

MR
T1 hypo
T2 hyper
May be atypical if infected, haemorrhagic, proteinaceous
Nodular enhancement suggests rare malignant transformation

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52
Q

Urethral diverticulum are

A

Uni or multilocular lesions adjacent to and often surrounding urethra.

Majority are acquired arising from infected/inflamed periurethral skene glands

Usually asymptomatic and incidental. May cause UTI sx, dribblings, dyspareunia

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53
Q

Urethral diverticula imaging characteristics

A

MR
T2 hyperintense
T1 hypointense
Diverticular neck may be visualised
Irregular wall enhancement or mass like components may suggest infection/malignancy

US
Well marginated anechoic periurethral cystic lesions
peripheral doppler flow suggests infection

CT
hypointense periurethral cystic lesion
may opacify post void
may see complicating stones

Fluoro

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54
Q

Urethral diverticula differentials

A

Bartholin cyst - posterolateral vaginal introitus
Skene gland cyst - anterior vaginal introitus at external meatus
Gartner duct cyst - classically anterolateral vaginal wall above the pelvic diaphragm
Urethral tumour - solid, expands urethra

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55
Q

Vaginal fistula is

A

an epithelially lined communication between the vaginal lumen and adjacent pelvic organs

types; vesico, colo/entero, recto/ano

Simple (single tract) or complex (multiple tracts).

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56
Q

Vaginal fistula causes

A

Obstetric trauma

Gynae/urologic procedures

Inflammation (Crohns)/ infection

Pelvic malignancy (bladder, cervical, endometrial)

Radiation therapy, 20 years post

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57
Q

Vaginal fistula imaging characteristics

A

Fluoroscopy
communication between the vaginal lumen and other pelvic organ, specific to type

CECT
Enteric contrast in vagina with bowel associated
Vesico or ureterovaginal fistula confirmed with contrast in vagina on CT cystography or urography

MR
Superior modality owing to multiplanar capabilities and soft tissue contrast
Abnormal T2/STIR linear hyperintensity
Surrounding low T2 fibrous wall
Low signal intensity tract with enhancing wall on T1+C

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58
Q

Cervical stenosis is

A

Canal narrowing from benign or iatrogenic source.
When severe, results in hydrometra, pyometra or haematometra.
Cervical canal narrowing <2.5-3.5mm

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59
Q

Cervical stenosis pathology

A

Any process that results in inflammation, erosion, repair and regeneration of cervical mucosa
In post menopausal women usually age related atrophy
Recognised complication following D/C, radiation therapy, cone biopsy and cervical amputations, radical tracheloectomy

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60
Q

Cervical stenosis imaging

A

Thickened cervix, fluid within endometrial canal
May see ancillary signs to suggest etiology eg thickened bowel post radiotherapy
May see dilated blood filled fallopians
Loss of normal cervix zonal architecture if radiation or old

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61
Q

Cervical stenosis differentials

A

Obstructed uterus secondary to malignancy

Obstructed uterus secondary to mass effect - cervical or submucosal leiomyoma or other pelvic mass causing compression/obstruction

Congenital abnormalities - imperforate hymen, complete transverse vaginal septum, cervical atresia, vaginal atresia
May have associated haemtocolpos and haematometra
Kidneys should be evaluated

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62
Q

Mayer Rokitansky Kuster Hauser syndrome is

A

congenital anomaly characterised by vaginal agenesis associated with spectrum of other GU tract abnormalities.

Two forms
A: congenital absence of the uterus and upper 2/3 vagina with normal ovaries and fallopian tubes
B: includes associated abnormalities of the ovaries and fallopians rubes, as well as renal anomalies

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63
Q

Mayer Rokintansky Kuster Hauser syndrome pathology

A

Arrested development of the paramesonephric ducts at 7 weeks.
Normal external genitalia and absence or reduced development of the uterus and upper two thirds of the vagina

Upper vagina, uterus, cervix and fallopian tubes from Mullerian ducts from 8-12w.
KUB concomitantly at 6-12 w.

Assoc: vertebral anomalies, renal anomalies (agenesis, ectopic kidney, fused kidney, renal hypoplasia and horseshoe kidney

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64
Q

Adenoma malignum is

A

Subtype of mucinous adenocarcinoma of cervix , termed malignum due to virulent and fatal progression

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65
Q

Adenoma malignum pathology

A

Well-differentiated endocervical glands that extend from surface to deeper portion of the cervical wall.

Presents with cluster of cysts, deceptively benign on histo

Associated with
Peutz jeghers syndrome
Mucinous ovarian tumours
Ovarian sex cord tumours with annular tubules

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66
Q

Endometrial hyperplasia is

A

Excessive proliferation of endometrial glands with increased ratio of glands to stroma

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67
Q

Endometrial hyperplasia imaging

A

Endometrial thickening with well defined myometrial interface
Focal or diffuse
May have cystic change

MRI
T1: usually not seen
T2: diffuse thickening of striple, iso/hypo to normal endometrium. May hve cystic change
C+FS: hypo to myometrium early, iso to hyper to myometrium late

US
Diffusely thickened, homogenous
May show cystic swiss cheese change
If atypical hypoechoic/heteerogenous areas
Multiple vessels, sparse vasculairty

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68
Q

Endometrial hyperplasia cutoffs

A

Premenopausal
>8mm proliferative
>16mm secretory

Post menopausal with bleeding >5mm

Postmenopausal without bleeding >8-11mm

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69
Q

Endometrial hyperplasia differentials

A

Secretory endometrium

Endometrial carcinoma - may coexist. irregular thickening/mass. ill-defined margins. myometrial invasion.

Endometrial polyp - may coexist. sessile polyps may mimic focal. Separate endometrial lining. Single feeding vessel in pedunculated. Fibrous stalk MR.

endometritis - hypervascular, fluid in cavity, adnexal changes of PID

Submucosal leiomyoma - focal hypoechoic thickening of endometrial echo complex. MR can easily differentiate.

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70
Q

Endometrial hyperplasia pathology

A

Unopposed estrogen; chronic anovulatory, exogenous, tamoxifen, obesity, secreting tumours

Assoc; endometrial polyp, endometrial cancer

post menopausal bleeding

Divided into hyperplasia with and without atypia. 25% with have or will have carcinoma.

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71
Q

Endometrial cancer epidemiology

A

Most common gynae cancer. Peak incidence 6th decade.

Risk factors: estrogen exposure; replacement, PCOS, tamoxifen, obesity, early menarche/late menopause, nulliparity, secreting tumours, DM

Assoc: HNPCC, complex hyperplasia

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72
Q

Endometrial cancer pathology

A

Majority adenocarcinoma

Divided into type 1 and 2

Type 1: 80%. unopposed estrogen and endometrial hyperplasia. Obese mid 50s women. Well diff, slow progression. PTEN gene mutation 3-80%
- endometrioid carcinoma

Type 2: 20%. Endometrial atrophy. 70ish. p53 mutation 50%. Less differntiation and spreads early
- papillary serous carcinoma
- clear cell carcinoma
- adenosquamous carcinoma
- adenocarcinoma with squamous diff
= undifferentiated/small cell

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73
Q

Endometrial cancer imaging

A

US
Thickening or polypoid mass
premenopausal; varies with cycle. >16 secretory, >8 prolif

post menopausal >5, or 8 if HRT/tamox

Suggestive US features; heterogenous, irregular. polypoid mass. intrauterine fluid. frank myometrial invasion. Disruption of subendometrial halo

CT
Mets

MRI
T1: hypo to iso to normal endometrium
C+: hypoenhancing. delayed for stromal invasion.
t2: iso to hypo relative to normal. heterogenous. hypointense to myometrium
DWI: restricted

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74
Q

Endometrial cancer FIGO

A

stage 1: tumour confined to the uterus
stage 1a: an invasion of less than half of the myometrium
stage 1b: an invasion of the outer half of myometrium

stage 2: tumour extends to the cervical stroma

stage 3: tumour extends beyond the uterus
stage 3a: tumour invades the serosa or adnexa
stage 3b: tumour invades the vagina or parametrium
stage 3c: pelvic/para-aortic lymph node involvement
3c1: pelvic lymph node involvement
3c2: para-aortic lymph node involvement\

stage 4: bladder/rectal invasion or distant metastases
stage 4a: tumour extends into adjacent bladder or bowel
stage 4b: distant metastases

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75
Q

Endometrial cancer differentials

A

Benign proliferation
endometrial hyperplasia
endometrial polyp
Submucosal uterine leiomyoma

DDX advanced
Uterine sarcoma - endometrial sarcoma, leiomyosarcoma, malignant mixed Mullerian tumour
Uterine lymphoma
Cervical cancer with invasion
Mets

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76
Q

Fibroids are

A

Benign tumours of uterine smooth muscle cells

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77
Q

Fibroid types

A

Location
Intramural: most common, surrounded by myometrium
Subserosal: deep to and abutting serosa. sessile or pedunculated. May grow laterally through broad lig folds. Can tort and infarct.
Submucosal: deep to endometrium. Sessile or pedunculated. Stretches over endometrium or projects into cavity. Can pass through cervix. Odten symptomatic, irregular bleeding and infertility

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78
Q

Fibroid imaging

A

HSG
Mass effect on endometrium

CT
Hypo or homogenous enhancement
can calcify

MRI
T1 iso to myometrium
T2: homogenous, hypointense to myometrium. pseudocapsule. hyperintense rim, edema,lymph, veins
C+: solid enhancing, variable, enhancing halo

US
homogenous, hypoechoic, shadowing
peripheral flow, decreased central flow
have have stalk vessel in pedunculated or bridging vessel sign in subserosal

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79
Q

Fibroid differentials

A

Adenomyoma: poorly marginated and intermediate T2. Punctate hyperintense T1/T2 foci. Ill defined endometrial/myometrial junction and contiguous with junctional zone

Malignant uterine neoplasm; leimyosarcoma. irregular and indistinct. heterogeneous t2 and post con signal. rapid growth

Contraction

Ovarian fibroma

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80
Q

Fibroid degeneration

A

Hyaline; focal or generalized

Cystic

Myxoid

Red/carneous; due to haemorrhagic infarct

Not degenerative but other types
parasitic; subserosal torted off
broad lig and cervical
diffuse
lipoleiomyoma
pyomyoma - suppurative

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81
Q

Pyomyoma is

A

Suppurative leimyoma. Presents with sepsis, bactaraemia, leiomyoma.

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82
Q

Pyomyoma imaging

A

Gas and internal debris. Heterogenous in attenuation with regions of degeneration associated with parametrial inflammation

Intramural/submucosal/subserosal

MPR helps identify pyomyoma rupture with discontinuity of wall

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83
Q

Uterine AVM pathology (etiology and assoc)

A

Etiology:
Congenital (rare)
Acquired; post traumatic or infectious
Risk factors: D/C, IUD, pelvic surgery, infection, GTD, carcinoma, diethylstilbestrol exposure

Assoc:
pseudoaneurysm

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84
Q

Uterine AVM imaging

A

US
Small anechoic spaces distributed uniformly producing spongy myometrial echotexture
No mass effect
2 mosaic patterns of colour; flow reversal and colour aliasing
High flow low resistance arterial flow
Prominent parametrial vessels

MR
Bulky appearance, focal or diffuse disruption of the junctional zone
Multiple serpentine flow related signal voids
No well defined mass or margins
MRA: enlarged arteries, vascular network, early venous filling

Angiographic
Complex tangle of vessels
Hypertrophied feeding uterine arteries
Early venous drainage

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85
Q

Uterine AVM ddx

A

Gestational trophoblastic disease - positive bhcg, overlapping features, may coexist

Endometrial carcinoma - neovascularity, low volume, high velocity

RPOC - bhcg, endometrial based mass, overlapping doppler characteristics

Pelvic varicosities - normal venous waveforms

Uterine haemangiomas - phleboliths

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86
Q

Ovarian torsion is

A

Twisting of the vascular pedicle on axis of infundibulopelvic and uteroovarian ligaments. Leads to venous and lymphatic congestion, arterial obstruction and infarction.

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87
Q

Torsion imaging

A

Enlarged oedematous ovary displaced
>4cm in one dimension or >20cc premeno 10cc post meno
Heterogenously echogenic appearance of the ovary

US
enlarged, heterogenous, hyperechoic
peripherally displaced follicles
displaced to midline
cystic or solid lesion as lead point
twisted vascular pedicle
free fluid/haematoma
probe pain

Doppler
whirlpool along pedicle
pulsed doppler variable findings

CT
Enlarged cyst or mass may be present
Twisted vascular pedicle is specific
Free fluid
May have subacute haemorrhage

MRI
T1 hypointense. can be hyper if subacute haemorrhage, or haemorrhagic lesion
T2 increased due to oedema. hyperintense follicles
C+ variable

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88
Q

Torsion ddx

A

Haemorrhagic cyst; highly variable appearance. typicall avascular with reticular fishnet pattern. can have retractile clot, fluid level, debris

Ectopic pregnancy; positive bhcg. Tubal mass with thick echogenic ring

Isolated fallopian tube torsion; FT thickened walls,internal haemorrhage

PID; complex fluid collection with pseudo solid appearing components. hyperaemia.

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89
Q

Torsion pathology

A

Follicular cyst most common
Mature cystic teratoma most common tumour

Presentation
acute onset sharp pelvic pain, n/v

Demographics
reproductive years, 20% pregnant
2-3% gynae emergencies
increases with ovarian stimulation

Prognosis
If untreated, infarction
Spontaneous torsion detorsion leading to ovarian oedema

Treatment
surgery; detorse vs remove

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90
Q

Follicular cyst - definition, imaging, ddx, clinical

A

Hormone dependent functional ovarian cyst. Arrested follicular development with subsequent cyst formation.

Imaging
Well marginated round with thin wall
2-8cm solitary
Peripheral rim of compressed ovarian parenchyma, often with other smaller developing follicles
US: anechoic, avascular, simple apearing. varied if haemorrhagic
MR: T1 low T2 high. No central enhancement. Thin smooth enhancing wall without nodularity of papillary projections. Varied central signal if haemorrhagic.
CECT: fluid density, no central enhancement

DDX
endometrioma
CL cyst
Paraovarian cyst
Surface epithelial tumour

Clinical
Majority of simple cysts in premenopause are follicular and regress in 2 cycles

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91
Q

Corpus luteal cyst - definition, pathology, imaging, ddx, clinical

A

Cystic dilatation of normal physiological corpus luteum

Path
Round yellow with lobulated margins
Thickened and irregular
Serous or serosanguinous internally
Wall becomes luteinised; granulosa lutein, theca lutein and k cells
Menstrual cycle:
Follicular - FSH, dominant follicle, estradiol, LH surge, ovulation
Luteal - Ovulation, CL, progesterone, CL increases then involutes to corpus albicans

Imaging
Unilocular cyst wih irregular thick crenelated vascular wall
Mimic solid when collapsed

MR
thickened irregular enhancing wall
Variable signal due to haemorrhage
No internal enhancing papillary projections or mural nodularity

US
anechoic with thickened echogenic wall
posterior enhancement
variable due to haemorrhage
ring of fire vascularity
typically <3cm

DDX
Ectopic
Endometrioma
Primary ovarian neoplasia
Ovarian abscess

Clinical
Asx, can have rupture and haemorrhage
Majority regress in 2 months

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92
Q

Theca lutein cysts - defintion, imaging, ddx, clinical

A

Multiple theca lutein cysts in associated with increased levels of or abnormal ovarian respone to bhcg

Imaging
Bilaterally enlarged ovaries with multiple cysts of variable sizes
Hypervascular central uterine mass if molar
typically 6-12cm
preservation of underlying ovary
thin walled cysts
No nodules or solid components
Spoke wheel ovaries

DDX
ovarian epithelial neoplasm
PCOS
OHSS

Clinical
Usually asx, can rupture or tort
typically regress after causative factor

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93
Q

Haemorrhagic cyst - definition, imaging, ddx, clinical

A

Haemorrhage into cystic space in ovarian pathology

Imaging
Avascular hypoechoic ovarian mass with fine, lacy internal echoes
Most resolve 6-12 weeks
Mass like complex adnecal without vascularity
If ruptures, haemoperitoneum

DDX
Endometrioma - more uniform echoes
Solid ovarian mass - papillary projections more likely than angular fragments
Torsion - can be painful, haemorrhagic

Clinical
Most asx and resolve
Larger - pain, acute abdo
Surgery for severe - rupture or torsion

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94
Q

PCOS IS

A

Polycystic ovarian morphology with clinical and endocrine dysfunction. Must exclude other etiologies of hyperandrogenism and menstrual disturbance.

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95
Q

PCOS imaging

A

> 25 follicles, >10mL volume
Usually bilateral, may be unilateral
Other: >9follicles per section. String of pearls appearance.

MRI
T1 low follicles, stroma isointense to myometrium
T2 small subcapsular hyperintense follicles. low signal ovarian cortex and central tissue.
C+ follicle rim enhancement. enhancement of vascularised stroma.

US
FNPO >25, sesn 85 sp 94
volume 10cc
Increased stromal volume and echogenicitiy
Endometrial thickening - homogeneous or heterogenous, can have cystic change. due to unopposed estrogen.
Increased stromal blood flow and vessel calibre, decreased RI PI

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96
Q

PCOS ddx

A

Normal ovaries with multiple functional cysts

Polycystic ovaries. absent clinical and biochemical features

Multifolliclar ovaries - incomplete pulsatile gonadotropin stimulation. assoc w hyperprolactin, hypothalamic anovulation, weight related amenorrhea. Normal LH and T, decreased FSH. Mid to late normal puberty. Fewer follicles.

Pelvic congestion - prominent ovaries, polycystic pattern to clusters of 4-6. Enlarged uterus thick endometrium.

OHSS

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97
Q

Dermoid cysts are

A

Congenital cystic tumour composed of well differentiated derivations from at least 2/3 germ cell layers. Classified as benign ovarian germ cell tumour.

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98
Q

Dermoid cyst imaging

A

CT
Fat is diagnostic
Teeth or calc in half
May see floating mass of hair
Dermoid plug in wall
Enhancement of solid component may occur in benign

MRI
T1 - heterogenous. Bone low, fat high. Can have chemical shift artefact.
T1FS - suppression is diagnostic
T2 - variable
SWI - restricting, due to keratinoid substance
C+ - enhancement can occur in benign

US
Dependant on size of plug, calcific elements and histo
May be echogenic or cystic
3 most common;
- cystic with echogenic shadowing nodule projecting inward (Rokitansky)
- Tip of iceberg; Echogenic with sound attenuation owing to sebaceous material or hair within cavity
- Dermoid mesh; multiple thin dot dash caused by hair
Shadowing calcific structures
Fluid fluid level with sebaceous and serous
Floating nodules

Complications
- torsion
- rupture
- malignant transformation
- pseudomyxoma peritonei
- infection
- paraneoplastic encephalitis

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99
Q

Dermoid cyst differentials

A

Endometriomas

Bowel - gas/faeces may mimic rokitansky

Haemorrhagic cyst

Pedunculated lipoleiomyoma

Immature teratoma - predominantly solid that contain fatty elements, irregular calcifications and numberous cysts

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100
Q

Dermoid cyst pathology

A

Cavity filled with sebaceous material liquid/semisolid
Surrounding firm capsule
Usually unilocular
1 or more rokintansky nodule

Micro
Well differentiated derivatives of 3 germ layers
Orderly arrangement of tissues
Squamous epithelium lined walls of cyst
Compressed ovarian stoma
Hair, skin, muscle within wall
Strumi ovarii

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101
Q

Anembryonic pregnancy is

A

Form of failed early pregnancy with a gestational sac but the embryo does not form

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102
Q

Anembryonic pregnancy pathology

A

Blastocyst formed from fertilised ovum
Fetal pole never develops
bHCG formed due to syncytiotrophoblast invasion into endometrium

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103
Q

Anembryonic pregnancy imaging

A

No embryo in gestational sac MSD >25mm

OR

No embryo on follow up scan
- 11 days after showing sac with yolk sac but no embryo, or
- 2 weeks after scan showing gestational sac with no yolk sac or embryo

Ancillary
- Absent yolk sac MSD >8mm
- poor decidual reaction
- irregular sac shape
- low sac position

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104
Q

Anembryonic pregnancy differentials

A

Early pregnancy

Pseudogestational sac

Gestational trophoblastic disease

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105
Q

Ectopic pregnancy pathology

A

Epidemiology
- 1-2% pregnancies.
- 18% of 1st trimester w bleeding
- assoc with IVF

Locations
- tubal (ampullary, isthmal, fimbrial)
- Interstitial/cornual
- Ovarian
- Cervical
- Scar ectopic
- Abdominal ectopic

RF
- IVF
- Prior ectopic
- Tubal surgery/injury
- PID
- SIN
- endometrial injury
- IUD
- Endometriosis
- Previous placenta previa
- Congenital uterine anomalies
- smoking
- maternal age

bHCG increases at a slower rate, 50% or less in 48 hours

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106
Q

Ectopic pregnancy imaging

A

Empty uterus
pseudogestational sac
decidual cast
thick echogenic endometrium

Complex adnexal cystic mass 95% with empty uterus
Simple 10
Ring of fire
Live extrauterine

Free pelvic fluid or haemoperitoenum
- positive bhcg, fluid and empty uterus 70%

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107
Q

Special ectopic key features (interstitial, ovarian, cervical and c scar)

A

Interstitial
- 2-4%
- higher risk of rupture, massive haemorrhage, uterine rupture
- interstitial line sign (echogenic line from mass to endometrial echo complex
- eccentric gestational scar, <5mm myometrium in all planes

Ovarian
- <3%
- Wide echogenic outer ring
- on or in ovary
- Unable to separate on pressure

Cervical
- <1%
- sac within the distended cervix, hour glass appearance of the uterus
- abnormally low sac position
- hyperechoic reaction
- internal os usually closed
- consider miscarriage in progress; no HR, open internal os, sliding sac sign, loss on repeat us

C section
- empty uterus and cervical canal
- anterior lower part of uterine segment
- absence of myometrium between bladder wall and gestational sac
- methotrexate injections, high surgical morbidity
- uterine rupture and massive haemorrhage
- ddx; anterior cervical ectopic, prominent c scar tissue, miscarriage in progress

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108
Q

Pregnancy unknown location definition and differentials

A

Neither uterine or ectopic prengnancy identified on TVUS in setting of positive BHCG

DDX
- early
- non viable not detected
- complete miscarriage
- unidentified ectopic

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109
Q

Failed pregnancy criteria

A

Diagnostic:
MSD>25 - no embryo
CRL >7 - no FHR
Absence of embryo with HB >14 days after GS no YS
Absence of embryo with HB > 11 days after GS with YS
Sac, no embryo, MSD <12mm that fails to double >14 days
Sac no embryo and MSD >12mm with no FHR >7 days
Embryo no FHR and no FHR >7days
Cessation of previous FHR

Suspicious:
CRL <7mm no FHR
MSD 16-24 no embryo
Absent embryo with FHR 7-13 post GS wo YS
Absence of embryo with FHR 7-10 post GS w YS
No embryo >6weeks LMP
No embryo when amnion visible
Embryo present with amnion visible but no FHR
Small GS in relation to embryo <5mm
Enlarged YS >7mm

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110
Q

Complete miscarriage is

A

cessation of vaginal bleeding with no RPOC or GS in women with previous IUP

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111
Q

Inevitable miscarriage is

A

Open internal os, bleeding, 1st trimester. Most often intracervical contents. Migration on serial scans. Progression of a threatened miscarriage once cervix opens

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112
Q

Perigestational haemorrhage is

A

Haemorrhage around fetus during gestation. Spectum includes
- chorionic; separation of chorion from endometrium
- periplacental; subchorionic/preplacental, retroplacental
- placental

Epidemiology
2% pregnancies <10weeks
20% of those have vaginal bleeding <10 weeks

Prognosis
- 90% success rate if living and small
- large >50%, 25% loss rate
- haemorrhage with embryonic bradycardia 80% loss rate

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113
Q

Subchorionic haemorrhage

A

perigestation between uterine wall and chorionic membrane

US
crescentic collection and elevation of chorionic membrane
variable echotexture
extension toward placental margin
Small <30%, medium 20-50, large >50%

Prognosis
increased risk of abruption and preterm labour
poor prognosis if extension to internal os

ddx
retroplacental
marginal can mimic twin gestational sac
chorioamniotic separation

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114
Q

Physiological gut herniation

A

Natural phenomenom from 6-13 weeks
Intestine elongates and moves outside of embryonic abdomen into base of umbilical cord at 8 weeks
Midgut rotates 90 CC
10-11 weeks intestines return, then rotate additional 180 CC

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115
Q

Physiological gut herniation imaging

A

bowel outside anterior abdominal wall at base of umbilical cord
not seen after 12-13 weeks
no other organs
extent of hernia relatively small

DDX
gastroschisis - right side of umbilical cord
omphalocoele - midline, membrane, small AC, direct UC insertion

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116
Q

Nuchal translucency is

A

Normal fluid filled space at the back of the fetal neck 11 weeks to 13 weeks 6 days.

Increased NT thoguht to be related to dilated lymph channels. Non specific sign of generalised getal abnormality.

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117
Q

Thickened NT associations

A

Aneuploidy
- trisomies
- turners

Non aneuploidy structural defects and syndromes
- congenital heart disease
- Noonan syndrome
- CDH
- Omphalocoele
- skeletal dysplasias
- Smith lemli opitz syndrome
- VACTERL assoc

Miscarriage or fetal demise

Intrauterine infections; Parvo B19

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118
Q

NT technique

A

Midsag
- VC down
- tip of nose/nasal bone, hard palate, diencephalon

Magnificantion
- only head and upper chest

No extension or flexion

Free floating fetus

Calipers inside hyperechoic edges, widest part measured

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119
Q

NT assessment

A

CRL between 45 and 84, 11 weeks 3 days to 13 weeks 6 days
No septations
<2.2-2.8mm normal, needs to be age/CRL matched

Interpretation
<2mm <1% risk
3.4mm 7% risk
3.5-4.4mm 20% risk
5.5-6.4mm 50% risk
>8.5mm 75% risk

Correlate with
bhcg
afp
PAPP A
oestrriol

Further workup
Increased risk of less than 1/300, further on patients desrire after counselling
Amniocentesis and or chorionic villus sampling
fetal echo

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120
Q

Hydrops fetalis is

A

excessive extravasation of fluid into the third space of a getus which could be due to heart dailure, overload, decreased onc pressure or increased permeability.

At least two components of;
- pleural effusion
- pericardial effusion
- ascites
- generalised body oedema
- placental enlargement
- polyhydramnios
- hepatomegaly

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121
Q

Hydrops fetalis pathology

A

Immune or non immune cardiac failure

Immune
- 10%
- fetomaternal incompatibility, including rhesus

Non immune
- chromosomal anomalies
- cardiac causes (rate, congenital anomalies, tumours)
- twin related complications (transfusion syndrome, reversed arterial perfusion sequence)
- in utero infections (TORCH, PB19, coxsackie)
- fetal tumours (sacrococc teratoma, hepatic haemangioendothelioma, placental chorioangioma)
- in born errors of metabolism (gaucher, niemann pick)
- fetal hypoprotein states
- congenital anaemia
- skeletal dysplasia
- high output flow states (vein of galen aneurysmla malformation)
- thoracic/pulmonary (primary hydrothorax, CPAM, CDH, PS)

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122
Q

Placenta praevia is

A

abnormally low lying placenta to the internal cervical os. common cause of antenatal haemorrhage

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123
Q

Placenta praevia risk factors

A

Previous PP
Previous CS
Increased maternal age
Increased parity
Large placentas
Smoking
Assisted conception

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124
Q

Placenta praevia association

A

abnormal placental villous adherences

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125
Q

Placenta praevia classification

A

1: low lying - 20-5mm
2: marginal - reaches internal os, doesnt cover
3: partial - partially covers
4: complete - completely covers

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126
Q

Placental abruption is

A

premature separation of normally implanted placenta after 20 w and before 3rd stage of labour. Potentially fatal. Cause of 3rd trimester bleeding.

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127
Q

Placental abruption risk factors

A

Preeclampsia
Prior abruption
PROM
Maternal age
Maternal trauma
Smoking
Cocaine/amphetamine
Thrombophilia
Chorioamnionitis
Short cord
Multiparity

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128
Q

Placental abruption clinical

A

Board like abdo tone
Bleeding, can be concealed
Uterine contractions
lumbar pain
Maternal/fetal compromise

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129
Q

Placental abruption pathology

A

Likely rupture of a spiral artery with haemorrhage into the decidua basalis leading to separation.

Classification:
Marginal
Retroplacental
Preplacental

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130
Q

Placental abruption imaging

A

US:
Retroplacental haematoma
Interplacental anechoic areas
Separation and rounded edges
Placental thickening
Thickening of retroplacental myometrium
Disrupted placental circulation
Intra-amniotic echos
Blood in fetal stomach
Intermembranous clot (twins)

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131
Q

Placental abruption complications

A

IUGR
Fetal demise
Maternal exsanguination

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132
Q

Placental abruption ddx

A

Isoechoic:
Contraction
Placentomegaly

Hypoechoic:
leiomyoma
Subplacental space

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133
Q

Placental variations

A

Single lobe, bilobe, succenturiate, circumvallate, circummarginate, placenta membranacea, placenta fenestrata, zonary, annular, ring, shorse shoe

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134
Q

Bilobed placeta

A

Two near equal sized lobes. If smaller, succenturiate.

Assoc: velamentous cord insertion, increased risk vasa previa II, post partum haemorrhage

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135
Q

Succenturiate lobe

A

Smaller accessory lobe. Check for vascular connection over os (vasa previa)

Complications: type II vasa previa, post partum haemorrhage

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136
Q

Circumvallate placenta

A

Small chorionic plate, inward insertion of membranes from the edge to the centre (placental shelf)

Complications; increased risk abruption, IUGR

ddx: amniotic shelf, amniotic band close to placenta

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137
Q

Circummarginate placenta

A

Similar to circumvallate but not inward rolling. Chorionic membranes insert inward from margin of placental edge.

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138
Q

Placenta membranacea/diffusa

A

placenta develops as thin membrane around entire periphery of chorion

associations; abnormal adherence

complications; praevia, IUGR, antepartum haemorrhage, miscarriage, fetal demise, post partum haemorrhage

139
Q

Types of cord insertion

A

Central
Eccentric - lateral, >2cm
Maringal - <2cm
Velamentous - on chorioamniotic membranes

140
Q

Marginal cord insertion is

A

insertion of the cord <2cm from placental margin. also known as battledore.

7% single preg but 25% twins

141
Q

Marginal cord associations

A

IUGR, monchorionic twins, abruption, preeclampsia, nuchal cord entanglement, preterm

can progress to velamentous

142
Q

Velamentous cord insertion pathology

A

Epidemiology
1% single and 9-15% twins
More common in praevia

Path
Cord inserts into the chorioamniotic membranes outside the margin then travels within membranes to the placenta. Thought to be remodelling of placenta as response to factors that affect blood flow (trophotropism). May evolve from marginal.

Associations
bilobed, twin preg, uterine anomalies, IUCD, single umbilical artery, praevia

Complications
Type 1 vasa previa
IUGR
twin growth discordance
Twin twin transfusion

143
Q

Vasa praevia is

A

aberrant fetal vessels crossing over or in proximity to internal cervical os, ahead of presenting fetus, within membranes without support of placenta. Unsupported by Whartons jelly and risk of labour rupture.

144
Q

Vasa praevia types

A

1: vessels connect velamentous cord insertion to placenta
2: vessels connect portions of bilobed of succenturiate lobe placenta

145
Q

Vasa praevia risk factors

A

multiple gestations
low lying
succenturiate lobe or bilobed
ivf preg

146
Q

Vasa praevia imaging

A

vessels over os

147
Q

Placental lakes are

A

formation of hypoechoic cystic spaces centrally within placenta. Can be abnormal if diffuse or in very early pregnancy

148
Q

Placental lake imaging

A

well defined hypoechoic regions
low velocity intraplacental laminar flow

ddx; chorioangioma; marked internal vascularity

149
Q

Gestational trophoblastic disease is

A

Abnormal proliferation of trophoblastic tissue

Encompasses:
Hydatiform mole
- complete
- partial
- coexistent
Invasive mole
Choriocarcinoma
Placental site trophoblastic tumour
Epithelioid triphoblastic tumour

150
Q

Hydatidform mole pathology

A

Subtypes
Complete or partial, absence or presence of a fetus
complete; absence
partial; with an abnormal fetus or fetal demise
Can coexist

Chromosomal composition
Complete 46XX diploid chromosomal pattern. single sperm egg lost chromosomes
Partial 69XXY egg two sperm

Location
Uterine cavity, rarely fallopian tubes or ovaries
Cluster of grapes, chorionic villi into mass of clear vesicles

bHCG exceeding those in pregnancy

can become invasive or turn to choriocarcinoma

151
Q

Complete mole summary

A

Commonest, benign GTD

Absence of fetal parts

Non invasive diffuse swelling of the chorionic villa

most have 46XX diploid chromosomal pattern, some 4XY

elevated bhcg

US
enlarged uterus
intrauterine mass with cystic spaces and no fetal parts
snowstorm, bunch of grapes
bilateral theca lutein cysts
high velocity low impedance

MR
heterogenous mass with cystic spaces distending uterus
fetal parts absent
uterine zonal anatomy often distorted

152
Q

Partial mole summary

A

Focal distribution, slower transformation, embryo presence and triploid karyotype

most 69XXY, then 69XXX then 69XYY

US:
enlarged placenta relative to uterine cavity
cystic spaces in placenta
amniotic cavity, empty or amorphous small fetal echoies
well formed but growth retarded fetus, either dead or alive with hydropic degeneration
can be similar to complete mole or missed abortion
high velocity low impedance

ddx
fetal demise with placental hydropic change
twin pregnancy with coexistent mole
placental mesenchymal dysplasia

153
Q

Invasive mole is

A

tumours growth associated with gestation, under GTD spectum. Locally invasive, non metastasising neoplasm.

154
Q

Invasive mole path

A

10-20% post molar evac and infrequently after other. penetrates and perforates uterine wall

Path
arise from hydatidiform moles. invasion of the myometrium by hydropic chorionic villa, accompanied by the proliferation of trophoblast. locally destructive and may invade parametrial tissue and vessels

bhcg markedly elevated

155
Q

Invasive mole imaging

A

US
echogenic vascular mass invading myometrium. high velocity low impedance

MR
poorly defined mass that deeply invades myometrium. complete or partial disruption of the junctional zone.
T1 isointense to myometrium with foci of high signal haemorrhage
T2 mixed

156
Q

IUGR is

A

EFW and/or AC below the 3rd percentile

OR

AC below the 10th percentile with deranged Doppler parameters

157
Q

IUGR aetiology

A

Maternal conditions; smoking, alcohol, diabetes, malnutrition, vascular conditions

Placentral insufficiency

Single umbilical artery

Fetal; multifetal, infection, chromosomal, mosaicism, syndromic anomalies, in utero exposure

158
Q

IUGR imaging features

A

Non Doppler features:
Reduced AC and or EFW
- AC and or EFW <3rd
- AC and or EFW <10 with deranged Dopplers
Oligohydramnios without membrane rupture
Increases HC to AC ratio
Advanced placental grade

Doppler features:
UA PI >95th, absent or reversed diastolic flow
UV pulsatility
Uterine A PI >95th, notching in mid to late
CP ratio <5th

159
Q

IUGR complications

A

Antepartum
- stillbirth
- iatrogenic prematurity
- abruption
- perinatal stroke
Intrapartum
- abnormal fetal status
- asphyxia
- emergenct c section
- active neonatal resus
- perinatal stroke
Neonatal
- hypothermia
- hypoglycaemia
- hypocalcaemia
- ploycythemia
- sepsis
- coagulopathy
- hepatocellular dysfx
- RDS
- NEC
- IV haemorrhage
- HIE
Paediatric
- risk of short, palsy, delay, emotional problems, lower IQ, chronic lung disease

160
Q

Symmetric IUGR is

A

IUGR when all fetal biometric parameters tend to be less than expected for the given age

May present at an earlier stage in gestation

Aetiology;
- aneuploidy
- infections
- Other; topical fluoro glucocorticoid, external agents (nicotine, alcohol, heroin, radiation)

Normal HC AC and FL AC ratios

161
Q

Asymmetric IUGR is

A

IUGR when some parameters are disproportionately lower than others. Classically AC.

Tends to present later, and is commoner

Relative preservation of the fetal brain due to fetal head sparing theory, characterised by an increased brain to liver ratio. Decreased SC fat. Rarely maternal coke has HC out of proportion.

Aetiology
Placental insufficiency
Pre-eclampsia

Assoc; Russell Silver syndrome.
Concurrent karyotopic abnormalities is low esp if detected late

Features
AC clasically reduced out of proportion and below 10th
BPD and HC may be normal
Increased HCAC ratio
Fetal tachycardia may be present
Oligohydramnios may be present

162
Q

Fetal macrosomia is

A

EFW >90th percentile

163
Q

Macrosomia features

A

Often truncal obesity and AC first parameter to increase

164
Q

Macrosomia treatment and prognosis

A

Early delivery or elective c section.

Complications related to issues with delivery and include; birth truam, birth asphyxia, neonatal hypoglycaemia and meconium aspiration

165
Q

Fetal aenamia causes

A

Haemolytic
- ABO incompatibility
- Rh incompatability

Infection
- PB19
Haemopoetic
- homozygous alpha thalassemia

Syndromes
- Aase
- Fanconi

Tumours
- placental chorioangioma
- infantile haemngioendothelioma
- sacrococcygeal teratoma

166
Q

Fetal anaemia imaging

A

US
- hepatomegaly and/or splenomegaly
- CV compromise and development of hydrops

Doppler
- increased MCA time average mean velocity
- increase in MCA PSV
- changes in doppler mca 88% sensitive and 82% specific

167
Q

Oligohydramnios imaging

A

AFI <5
Max vert pocket <2
Two diameter pocket <15cmsq

168
Q

Oligohydramnios causes, associations, complications

A

DRIPPC
Demise
Drugs (indometacin)
Renal abnormalities
IUGR
PROM
Post dates
Chromosomal

Associations:
Potter sequence
Underlying fetal hypoxia and CV compromise
Twin pregnancy related complications
Maternal dehydration

Poor prognostic marker
Amnioinfusion can be attempted if severe and indicated

Complications; pulmonary hypoplasia, limb contractures

169
Q

Polyhydramnios is

A

When amniotic fluid is more than expected for age

AFI >25cm
MVP > 10cm
AFV >1500-2000mL
Two diameter pocket >50cmsq

Classification
Mild: AFI 25-30
Moderate: 30-35
Severe >35

170
Q

Polyhydramnios pathology

A

Path; icnreased production or decreased removal of amniotic fluid. Vast variety of disorders.

Aetiology:
Idiopathic - majority
Maternal
- 25-30%
- diabetes
- CHF
Fetal
- 10-20%
- CNS lesions
- Proximal GI obstruction
- fetal cervicothoracic abnormalities (cervical teratoma/epignathus, fetal goitire, CPAM, CHAOS, CDH)
- Fetal CV anomalies
- twin preg related
- hydrops
- skeletal abnormalities

Treatment
- diabetes control
- c section
- amnioreduction
- indomethacin

Complications
- maternal dyspnea
- PROM
- preterm
- abnormal presentation
- cord prolapse
- post partum haemorrhage

171
Q

The spectrum of abnormal placental villous adherence describes

A

the degree to which there is invasion of chorionic villi into the myometrium due to defect in devidua basalis

172
Q

Abnormal placental villous adherence pathology

A

Pathology
- accreta; mildest, attached to myomatrium but doesnt invade muscle
- increta; intermediate, partially invade myometrium
- percreta; severest, penetrate entire myometrium or beyond serosa

173
Q

Abnormal placental villous adherence imaging

A

US
May have praevia
May have placental lacunae; moth eaten/swiss cheese appearance with turbulent flow
Abnormal colour doppler; turbulent flow, increased vascularity
Loss of retroplacental clear space
Reduced myometrial thickness

MRI
Praevia
Uterine bulging
Heterogenous signal
Dark intraplacental bands
Focal myometrial interruptions
Tenting of urinary bladder
Direct invasion

174
Q

Cystic hygroma is

A

congenital macrocystic lymphatic malgormation at the cervico facial region, particularly posterior triangle

175
Q

Cystic hygroma pathology

A

Fetal/infantile/paediatric . 0.2-3%.

Pathology
- maldevelopment of the lymphatic system and communication with the venous system of the neck
- endothelial lined cavernous spaces
- can be mixed with other vascular malformations

Most commonly occur at the neck, termed nucal hygroma.
Also axilla, mediastinum

Associations
Aneuploidy 65%
Non aneuploidy
- congenital cardiac; coarctation, hypoplastic left heart
- pentalogy cantrell
- apert syndrome

176
Q

Cystic hygroma imaging

A

usually well circumscribed, fluid density. Maybe be infiltrative, uni or multilocular. Can be mixed density.

US
Nuchael cyst, septations, evidence of fetal anasarac/hydrops

CT
ill defined hypoattenutating mass

MRI
T1 low unless hamorrhage
T2 high
C+ no enhancement

177
Q

Omphalocele is

A

a congenital midline abdominal wall defect at the base of the umbilical cord insertion with herniation of the gut and other structures out of the fetal abdomen

178
Q

Omphalocele associations

A

Chromosomal anomalies
- trisomy 18 most common
- trisomy 13
- trisomy 21
- turners
- klinefleters
- pallister killian
Other syndromes
- Beckwith Wiedemann
- pentalogy of cantrell
- OEIS complex (omph, exstrophic bladder, imperf anus, spinal anom)
- lethal omphalocele celft palate syndrome
Other GI anomalies
CNS/cardiac/GU/MSK anomalies
- bladder/cloacal exostrophy
- omphalocele radial ray complex

179
Q

Omphalocele imaging features

A

Multiple bowel loops in membrane covered defect
Direct insertion of cord into sac
Smaller AC
Polyhydramnios
Allantoic cyst

DDX
Pseudo omphalocele
Gastroschisis (usually right of midline)
Physiological gut herniation
Limb body wall complex (usually left of midline)
Umbilical hernia

180
Q

Limb body wall complex features

A

Abdominoschisis, usually left sided
Ectopia cordis
Lower limb anomalies
Scoliosis
Exencephaly

181
Q

Beckwth Wiedemann features

A

Macroglossia
Otic dysplasia
Omphalocoele
Localised giagantism
Hemihypertrophy
Cardiac anomalies
Pancreas islet cell hyperplasia
Organomegaly

182
Q

Pentalogy of Cantrell features

A

Omphalocoele
Ectopia cordis
Diaphragmatic defect
CV malformations

183
Q

Gastroschisis is

A

Extra abdominal herniation of fetal or neonatal bowel loops through a para umbilical wall defect

184
Q

Gastroschisis pathology

A

Usually right side, no membrane, small bowel. Bowel lacks normal rotation and fixation to the posterior wall. Other structures might herniate.
Compromised vascular supply to the area may be causative, or possibly incomplete regression of hte right umbilical vein

Associated with other bowel problems. Possibly IUGR.

185
Q

Gastroschisis imaging

A

herniated content right side of cord
AC smaller than expected
Bowel appears free floating
Accompanying oligo or polyhydramnios

186
Q

Gastroschisis prognosis and diffys

A

Condition of bowel most important prognostic.
Intrauterine mortality 10-15%
Surgically managed after birth

Complications:
Obstruction
Perforation
Mecnoium peritonitis
Motility dysfunction
NEC
Short gut syndrome
Fistula
GORD

DDX
Omphalocele
Physiological herniation

187
Q

Duodenal atresia is

A

a congenital malformation of the duodenum requiring prompt correction neonatally. Common, 1 in 5-10000

188
Q

Duodenal atresia clinical

A

Early life, duodenal obstruction
Distension, vomiting, absent bowel movements
Usually just distal to ampulla, so bilious vomiting but can be non bilious

189
Q

Duodenal atresia pathology

A

Failure of recanalisation of the bowel lumen that is a solid tube in early fetal life 11-12 weeks

190
Q

Duodenal atresia associations

A

Down syndrome
VACTERL
Annular pancreas
Other atresias

191
Q

Duodenal atresia ddx

A

XR
Duodenal stenosis
Duodenal web
Internal malrotation and midgut volvulus
These should show distal gas

US
Choledochal cyst
Omental cyst
Enteric duplication cyst

192
Q

Oesophageal atresia is

A

Absent continuity of the oesophagus due to inappropriate division of the primitive foregut into the trachea and oesophagus. Most common oesophageal congenital anomaly

193
Q

Oesophageal atresia clinical

A

Inability to swallow
Failure to pass NGT

194
Q

Oesophageal atresia pathology, subtypes, associations

A

Failure of the primitive foregut to divide into the trachea and oesophagus 4th week.
Pathogenesis includes teratogenic effects of early antithyroid drugs in pregnancy
Mostly sporadic

Subtypes:
Proximal atresia with distal fistula
Isolated atresia
isolated fistula H type
Double fistula with intervening atresia
Proximal fistula with distal atresia

Assoc:
Other atresias
Annular pancreas
Pyloric stenosis
VACTERL
CHARGE syndrome
chromosomal anomalies such as tri 18 and 21

195
Q

Oesophageal atresia imaging

A

XR
Dilated pharyngeal pouch
Presence of air distally implied fistula
Tube looping

Fluoro:
Particularly good for h type

US
Unexpected stomach position and shape
Other VACTERL anomalies
Polyhydramnios
Growth restriction

196
Q

Jejunal atresia is

A

A congenital anomaly characterised by obliteration of the lumen of the jejnum. Site can be anywhere from lig of Trietz to the jejnuoileal junction. Can be more than one segment.

197
Q

Jejunal atresia imaging

A

XR
Clasically triple bubble
More loops of air the more distal it is

Fluoro
Microcolon

US
Dilated proximal bowel loops
In utero bowel perforation
Polyhydramnios

198
Q

Jejunal atresia diffys

A

XR
Malrotation with midgut volvulus

Contrast enema
Total colonic Hirschsprungs
Meconium ileus

199
Q

Ileal atresia is

A

a congenital abnormality where there is stenosis or absence of a portion of the ileum. Increased with chromosomal abnormalities.

200
Q

Ileal atresia imaging

A

Dilated loops of proximal bowel
Microcolon on fluoro
US: polyhydramnios, proximal dilated segments

201
Q

Anal atresia is

A

spectrum of anorectal abnormalities ranging from membranous separation to complete absence

202
Q

Anal atresia path and association

A

No anal opening. High or low depending on the location of the atretic portion to levator ani. Mostly sporadic.

Associations:
Other atresias
VACTERL
Caudal regression syndrome: LL hypoplasia, sacral agenesis
Currarinos triad: Sacral anomalies and presacral mass
Fistulous tracts to urethra or vagina

203
Q

Anal atresia imaging

A

XR
Variable due to site, mecnoium impaction, physiological efects
May have multiple dilated loops with absent rectal gas
Air within urinary bladder suggests high type
Calcified meconium in the bowel loops would suggest high type
Coin on butt and baby flip
- >2cm high type
- <2cm low type

Fluoro
?rectourinary/vaginal/perineal fistula
?above or below pubococcygeal line

US
Echogenic spot at level of perineum
Bowel dilatation
Renal anomalies
Spinal anomalies

204
Q

Intestinal malrotation is

A

congenital anatomical anomaly resulting in abnormal gut rotation as it returns to cavity during embryogensis, Predisposes to midgut volvulus and internal hernias

205
Q

Malrotation associations

A

GI tract malformations
Biliary system malformations
Pancreatic malformations
CDH
Heterotaxy
Choanal atresia
hypospadias

206
Q

Malrotation pathology

A

During normal embryogensis
- bowel herniates into base of umbilical cord
- rapidly elongates
- undergoes complex 270 CC rotation resulting in DJ flexure to the left at L1 and terminal ileum in the RIF
- resultant broad mesentery running obliquely

Malrotation
- does not occur, resulting in short root mesentery acting as a pedicle around which volvulus can occur

Non rotation
- subtype in which the small bowel is mainly in the right and caecum in the left. Risk of volvulus is lower as patients effectively have the anatomy of patients who have undergone Ladd procedure.

Embyrological delay in rotation of the DJ loop and CC loop

207
Q

Malrotation imaging

A

XR
Right jejunal markings
Absence of RLQ stool
Features of midgut volvulus

US
Inverted SMA SMV relationship with SMA on the right and SMV on the left
No retromesenteric D3 segment duodenum

CT
Absent retromesenteric D3
Reversed SMA SMV
Large bowel mostly on left and small mostly on right

fluoro
Abnormal DJ location

208
Q

Midgut volvulus is

A

a complication of malrotated bowel resulting in proximal bowel obstruction with resultant ischaemia if untreated

209
Q

Midgut volvulus pathology and associations

A

Complication of intestinal malrotation

Associations
Gastroschisis
Omphalocele
CDH
Atresias

210
Q

Midgut volv imaging

A

XR
variable
bowel obstruction or free air late

Fluoro
Corkscrew sign
Beaking of bowel
Malrotated configuation

US
whirlpool sign
abnormal mesenteric vessels
- inverted SMV SMA
- Hyperdrynamic pulsating SMA
- truncated SMA
- inapparent SMA
Abnormal bowel
Free fluid

Similar CT findings

211
Q

Meconium peritonitis is

A

sterile chemical peritonitis due to intrauterine bowel perforation and spillage of fetal meconium into peritoneal cavity

212
Q

Meconium peritonitis pathology, classification and associations

A

Path
Sterile chemical reaction resulting from bowel perforation in utero. Usually perforates due to obstruction from atresias or meconium ileus. Results in ascites, fibrosis, calcifications and cyst formation.

Classification
Fibroadhesive
Cystic
Generalised
Healed

Associations:
CF, usually doesnt calcify
Atresias
Polyhydramnios

213
Q

Meconium peritonitis imaging

A

XR
Intraabdominal calcifications
mass containing calcification if cyst
Calc in scrotum if patent processus vaginalis

US
calcification may give snowstorm appearance
Ascites and or polyhydramnios
Increased AC
Dilated bowel
Dilated stomach

214
Q

Congenital hepatic haemangioma differentials

A

Hepatoblastoma
- solid, echogenic
- pseudocapsule
- spoke wheel appearance
- less vascular
- elevated AFP
Mesenchymal harmatoma
- predominantly cystic
- septations give swiss cheese appearance
Metastatic neuroblastoma

215
Q

Infantile/Congenital hepatic haemangiomas are

A

benign endothelial neoplasms in soft tissue or viscera, usually liver. Most common beign hepatic tumour of infants.

CH: perinatal period, does not proliferate beyond birth
Rapidly involuting RICH and non-involuting NICH subtypes.

IH: not present at birth. Proliferating phase over few months follows by involuting phase from 12 months over years.

216
Q

Infantile/Congenital hepatic haemangiomas imaging

A

Focal, multifocal or diffuse
- Focal = true CH. Large solitary well defined.
- Multifocal = IH. Multiple small round lesions. Diffuse, liver enlarged and completely replaced.

XR
Hepatomegaly. RUQ calcification. Heart failure features.

NCCT
Well defined hypodense
CH: hyperdense foci of haemorrhage or calc

CECT
CH: Confluent early nodular peripheral enhancement. No central fill in
IH: Early peripheral with complete central fill in

MRI
T1
hypointense
CH hyperintese foci
T2
CH: heterogenous
IH: homogenous hyperintense
C+
Similar enhancement to CT
MRA/MRV
Enlargement of abdominal arteries and veins including at periphery of lesion

US
CH: prenatal, heterogenous, vascular, hydrops, solitary
IH: Post natal, multiple round well defined lesions, variable

Doppler
CH: peripheral vascularit and AV shunts, little central
IH: variable, low resitance waveforms

217
Q

Infantile/Congenital hepatic haemangiomas clinical

A

CH: anaemia, consumptive coagulopathy (usually not kassabach merritt, seen with tufted angioma and kaposiform haemnagioendohelioma)

IH, diffuse: hypothyroid, liver failure, compartment syndrome. Can have kassabach meritt syndrome

AFP not elevated

Demographics:
CH usually perinatal
IH first few weeks

CH MF 1:1
IH MF 3:1

IH common in white

Natural history
RICH involute by 14 months
NICH may grow
IH grow over first year, gradually involute
higher mortality for diffuse

218
Q

Hepatocellular adenoma is

A

Benign neoplasm arising from hepatocytes. Rare malignant potential but risk of rupture and hamorrhage.
Different subtypes
Inflammatory 30-50%
HNF1a mutated 35-40%
b catenin activated 10-20%
Undifferentiated 5-10%

219
Q

Hepatocellular adenoma imaging

A

US
Well demaracted, solitary, hetergenous
variable echogenicity
Hypoechoic halo can be seen

Doppler
Perilosional sinusoids

CT
Variable dependant on fresh haemorrhage and fat content
If fatty liver can be hyperattenuating
Typically well marginated, isoattenuating
Transient homogenous arterial enhancement
Isoenhancing to liver on PV and delayed
Calcification in 5-10%

MRI
T1 variable, most often hyper
T2 mildly hyper
In/out: should have signal drop out
C+ early arterial, isointense on delayed
Hepatocyte specific: hypointense
Can be heterogenous everywhere due to blood and products

NM
Photopaenic with increased rim on Tc99 sulphur colloid (uptake in 23%)
Increased on HIDA
No uptake on gallium

220
Q

Hepatocellular adenoma epidemiology

A

Typically young women OCP
Anabolic steroids men
Glycogen storage diseases
- Type 1 von gierke
- Type III cori or forbes
Obesity
Metabolic syndrome
DM

221
Q

Hepatocellular adenoma differentials

A

HCC
- demographics
- washout tends to render it hypointense to liver
- persistent pseudocapsule enhancement

FLHCC
- central scar
- more calcification
- LN enlargement

FNH
- T2 bright scar with late enhancement
- retains hepatocyte spec contrast on delayed

Hepatic metastases
- T1 hypo T2 hyper
- fat and haemorrhage less common

Haemangioma
- typically fills in
- flash filing follows blood pool

222
Q

Multicystic dysplastic kidney is

A

A non inheritable paediatric cystic renal disease resulting in multiple renal cysts forming in utero

223
Q

Multicystic dysplastic kidney epidemiology

A

1:2500-4000
Slightly higher for males in uni and females in bilateral

224
Q

Multicystic dysplastic kidney pathology

A

Affected kidney or renal segment has no functional tissue and is replaced by multiple cysts.

Type main types:
1. pelviinfundibular
- most common
- multiple small non communicating renal cysts representing dilated calyces
- atresia of the ureter and pelvis
- may regress spontaenously
2. Hydronephrotic obstructive
- dominant cyst in the renal pelvis

Genetic
Sporadic and non familial.,
Rarely autosomal dominant forms.

Associations:
Associated renal tract anomalies is common including - - VUR
- PUJ obstruction
- ureteral ectopia
- VEUJ obstruction
- urterocele
Sydnromes
- Meckel gruber
- zellweger
- joubert syndrome related disorders

225
Q

Multicystic dysplastic kidney imaging

A

Often made antenatally with multiple small cysts becoming evident as early as the 15th week of gestation. May change dramatically over time.

US
Lobulated contour with multiple internal cysts of variable sizes
Parenchyma usually fibrous and echogenic with small hilar vessels
Cysts usually cluster and are non communicating

MRI
T2 bright well demarcated.

NM
MAG3 or DTPA: generally a void with no excretion

226
Q

Renal agenesis is

A

congenital absence or one or both kidneys. If bilateral (classic potter) than its fatal.

227
Q

Renal agenesis pathology and associations

A

Cause unknown in many cases. Can be early vascular insult to ureteric bud.

Results from failure of the proper development of the metanephros resulting in complete absence. Thought to occur early weeks 6-7. May also have internal genital malformation due to failure of the wolffian and mullerian ducts to develop or involute.

Associations
Chromosomal
- 21. 22, 7 and 10.
- Turner
Mullerian duct anomalies
Congenital heart disease
Skeletal anomalies
Potter syndrome/sequence
VACTERL
Adrenal agenesis

228
Q

Renal agenesis imaging

A

Antenatal US:
Absent kidney
Absent renal artery
Contralateral hypertrophy
Lying down adrenal sign
Bilateral: oligo or anhydramnios, non visualised bladder

229
Q

Renal ectopia is

A

Congenital renal anomaly characterised by the abnormal location of one or both kidneys.
Can occur as cross fused, thoracic or pelvic

230
Q

Renal ectopia pathology

A

During normal embyrological development there is cephalic migration. Ectopic is arrested migration.

231
Q

Renal ectopia associations

A

MCDK
Ureterocele
Patent urachus
VUR
Vaginal agensis
Hypospadias
PUJO
Other renal, vertebral, GI, GU and spinal anomalies

232
Q

Horseshoe kidney is

A

most common type of renal fusion anomaly. renders the kidney susceptible to trauma and increase risk of calculi/cancer (TCC, wilms, carcinoid).

233
Q

Horseshoe kidney pathology

A

Fusion across midline of two functioning kidneys. Isthmus can be fibrous or parenchymal.
Normal ascent restricted by IMA which hooks over isthmus. Normal renal axis is reversed with inferior poles pointed medially.
Renal vascular anomalies are common

234
Q

Duplex collecting system is

A

one of the most common renal tract congenital abnormalities, characterised by incomplete fusion of the upper and lower moieities resulting in a variety of complete or incomplete duplications of the collecting systems. Can be complicated by VUR, obstruction or urterocele.

235
Q

Duplex collecting system pathology

A

Occurs when two separate burds arise from a single wolffian duct.
Variable, exist on a spectrum from two pelvises draining to single ureter, to two complete separate tracts.
unilateral or bilateral
associated with a varietyy of other congenital abnormalities

assoc fanconi anaemia

236
Q

Duplex collecting system classification

A

duplex kidney: two pelvicalyceal systems draining a single parenchyma

duplex collecting; duplex kidney draining into
- singler ureter
- bifid ureter
- double ureter

bifid collecting system: duplex kidney with two separate collecting systems uniting at the puj or as bifid ureters

duplicated ureters: two ureters that drain separately into the bladder or genital tract

237
Q

Duplex collecting system imaging

A

duplicated ureters
obstruction of the upper pole moiety, usually with ureterocele
VUR into lower pole moiety
ectopic insertion of the upper pole moiety

fluoro
inferiorly displaced lower pole moiety dropping lily appearance
non excreting upper

238
Q

Crossed fused renal ectopia is

A

an anomaly where the kidneys are fused and located on the same side of the midline

239
Q

Crossed fused renal ectopia subtypes

A

Inferior cross fusion
sigmoid kidney
lump kidney
disc kidney
L shaped kidney
superiorly crossed fused

left to right ectopy three times more common

240
Q

Crossed fused renal ectopia imaging

A

90% at least partial fusion
10% unfused

Characteristic anterior or posterior notch between the two fused kidneys

241
Q

PUJ obstruction pathology

A

Commonly unilateral, left sided predilection
PUJ forms around the fifth week and the initial tubular lumen of the ureteric bud becomes recanalised by 10-12 weeks.
PUJ last area to recanalise. Inaequaecy here is thought to be the main explanation of PUJO. Extrinsic obstruction also commonly encountered.

Etiology:
Congenital
- idiopathic. proposed causes include
- abnormal muscle arrangement
- anomalous collagen collar
- ischaemic insult
- urothelial ureteral fold
- extrinsic compression or encasement
Adult
- Trauma
- calculus
- pyelitis with scarring
- malignancy
- extrinsic compresssion

242
Q

PUJ obstruction differentials

A

Congenital megacalectasis
Extrarenal pelvis
Parapelvic cyst

243
Q

Fetal pyelectasis pathology and associations

A

Majority physiological and spontaneously resolving.

May heraled tract pathology including;
- PUJO
- VUJO
- Urethral obstr such as posterior valves
- VUR
- Duplex kidney

Associations
- soft marker trisomy 21

244
Q

Fetal pyelectasis imaging

A

AP measurment of the renal pelvis axial plane
>4mm up to 28 weeks
>7mm at or after 38 weeks

Note any calyceal dilatation, ureteric dilatation, parenchymal appearance, bladder appearance and oligohydramnios

245
Q

Vesicoureteric reflux is

A

abnormal flow of urine from the bladder into the upper urinary tract and is typically encountered in young children

246
Q

Vesicoureteric reflux clinical

A

Predisposes to pyelonephritis

May be isolated or associated with other anomalies including
- congenital posterior urethral membrane
- bulbar urethral obstruction
- ureteral partial obstruction
- duplex collecting system

247
Q

Vesicoureteric reflux pathology

A

Majority of cases is the result of primary maturation abnormality of the VUJ resulting in a short distal ureteric submucosal tunnel. Normal pinch cock action when bladder pressure increases is impaired allowing urine to pass retrogradely.

248
Q

Vesicoureteric reflux imaging

A

VCUG
- confirm presence and grade
- occurence during micturition or during filling
- presence of associated anatomical anomalies
- length of the ureteric tunnel
- width of the lower ureter

US
- assess renal parenchyma for scarring or anatomical anomalies

NM
- can also grade it but cant see bladder disease, visualised male urethra as well and lacks spatial resolution

249
Q

Vesicoureteric reflux treatment

A

Low grade - abx
Surgical reimplantation for higher grades
Endoscopic treatment injceting bulking agent at VUJ may be used

250
Q

Vesicoureteric reflux grading

A
  1. limited to ureter
  2. up to renal pelvis
  3. mild dilatation of ureter and pelvicalyceal
  4. tortuous ureter with moderate dilatation, blunted fornices but preserved papillary impressions
  5. tortuous ureter with severe dilatation. loss of fornices and papillary impressions.
251
Q

Posterior urethral valves are

A

the most common congenital obstructive lesion of the urethra and a common cause of obstructive uropathy in children. Only seen in males.

252
Q

Posterior urethral valves clinical

A

Variable, may not be apparent until early infancy if mild. If severe, oligohydramnios and SGA. UTIs are common

253
Q

Posterior urethral valves pathology and associations

A

Formation of thick valve like membrnae from Wolffian duct origin (failure of regression of the mesonephric duct) that courses obliquely from the verumontanum to the most distal portion of the prostatic urethra.

Vast majority sporadic

Associations:
Chromosomal abnormalities
Bowel atresias
Craniospinal defects

254
Q

Posterior urethral valves types

A

Young classification
1. most common. Two mucosal folds extend anteroinferiorly from verumontanum and fuse anteriorly at lower level

  1. rare, considered a normal variant. Mucosal folds extend along posterolateral urethral wall from ureteric orifice to verumontanum
  2. circular diaphragm with central opening in membranous urethra. Located below the verumontanum and occurs due to abnormal canalisation of urogenital membrane. Sometimes referred to as Cobbs collar.
255
Q

Posterior urethral valves imaging

A

Antenatal:
- distention and hypoertrophy of the baldder
- may have hydroureteronephrosis
- oligohydramnios and renal dysplasia
- keyhole sign

Post natal US
- Similar to antenatral
- posterior urethral diameter >6mm
- can ruture collecting system resulting in urinoma around kidney or rupture bladder causing free fluid

VCUG
- keyhole sign
- linear radiolucent band
- VUR
- bladder trabeculae and diverticula

256
Q

Posterior urethral valves treatment and prog

A

Antenatal treatment is vesicoamniotic shunting

Post natally transurethral ablation of valve

Prognosis by degree and duration of obstruction. Severe cases with renal dysplasioa, oligohydramnios and pulmonary hypoplasia can be fatal.

257
Q

Bladder exstrophy is

A

herniation of the bladder through an anterior abdominal wall defect. Severity is variable. Male predilection. Mostly sporadic.

258
Q

Bladder exstrophy imaging

A

Soft tissue mass extending from a large infra umbilical anterior abdominal wall defect
Absence of the normal bladder and low lying umbilical cord insertion
Failure of the pubic bones to meet in the midline (manta ray sign)
Hurley stick appearance of the distal ureters

259
Q

Fetal enteric duplication cyst pathology

A

Result from abnormal recanalisation of the gastrointestinal tract. Comprise of two layer smooth muscle wall and internal epithelium of a respiratory or intestinal type.
May or may not communicate with GI tract.
Cystic or tubular.
Can be anywhere but predilection of the ileal region.

Associations
Most commonly vertebral

260
Q

Fetal enteric duplication cyst imaging

A

Anechoic cystic lesion within the abdomen separate from the normal hollow structures such as the bladder and the stomach.

Characteristic signs
- double wall sign
- gut signature sign (echoic club sandwich)

Can be echogenic (likely haemorrhage)

261
Q

Fetal enteric duplication cyst differential

A

Fetal omental cyst
Fetal mesenteric cyst
Meconium pseudocyst
Fetal ovarian cyst

262
Q

Mesenteric lymphatic malformation is

A

Subtype of congenital slow flow vascular malformation due to error of lymphatic vessel formation. Results in well defined cyst like (macro or micro) mass of abnormal lymph channels focally or diffusely. Lacks normal communication. Not neoplastic.

Synonymous with mesenteric or omental cyst, lymphangioma

263
Q

Mesenteric lymphatic malformation imaging

A

Macrocystic
- well defined, lobulated, uni or multilocular fluid filled mass in mesentery
- thin septations with minmal enhancement
- simple or complex fluid, can have layering fluid fluid levels

Microcystic
- more solid appearing, infiltrative
- may be intermixed with macrocystic components

264
Q

Mesenteric lymphatic malformation clinical

A

Generally slow growing. May rapidly enlarge due to haemorrhage, infection, hormonal.

Complications include obstructive, volvulus, infection, haemorrhage

Most present under 2 yo

Simple excision, partial bowel resection, sclerotherapy. Can use sirolimus

265
Q

Fetal adrenal hemorrhage pathology

A

unknown. associated with birth trauma, perinatal asphyxia, sepsis and congenital infections (classicaly syphilis)

uni or bilateral

266
Q

Fetal adrenal hemorrhage imaging

A

US
mass above kidney
demonstrate changing characteristics on sequential imaging
- hyper to iso to hypo to anechoic
with or without septations
no intrinsic vascularity

267
Q

Fetal adrenal hemorrhage differential

A

Neuroblastoma (vascularity)
Subdiaphragmatic pulmonary sequestration (left predilection, aorta supply
fetal adrenal cyst

268
Q

Fetal neuroblastoma pathology

A

May represent temporary defect in growth of normal fetal adrenal neuroblastic nodules which involute over time.

Most sporadic with 1-2% familial. Autosomal dominant with incomplete penetrance. Germline mutations in ALK and PHOX2B

Derive from primordial neural crest cells. Cystic change may indicate involution.
May mature to neuroblastoma, ganglioneuroblastoma, ganglioneuroma.
Biologic marcker; MYCN amplication (protooncogene on chromosome 2p, multiple copies in aggresive). DNA index (>1 more favourrable)

90% arise in the adrenal glands. Usually seen third trimester. Slight right predilection.

269
Q

Fetal neuroblastoma staging

A

International neuroblastoma staging sytem
1. confined to adrenal
2. extension beyond adrenal but not across midline
3. extension across midline
4. mets
4s. skin/liver and <10% bone marrow, good prog

Risk group staging
L1: lororegional without image defined risk factors
L2: locoregional with 1 or more IDRF
M: distal mets
Ms: similar to 4s

270
Q

Fetal neuroblastoma imaging

A

Complex cystic mass in suprarenal location. Diffuse vascularity rather than feeding vessel.

271
Q

Fetal neuroblastoma Clinical

A

Most comon congnital malignancy

Variable fetal course. May resolve spontaneously. Most remain stable without complication. Minority progress to hydrops and death.

Most have a favourable stage and biologic markers with excellent prognosis.

272
Q

Fetal neuroblastoma diffys

A

Extralobar sequestration - usually left sided, more solid, feeding vessel from aorta.

Adrenal haemorrhage - no colour

Duplex collecting

Mesoblastic nephroma

Teratoma

273
Q

Persistent right umbilical vein path and associations

A

Normally obliterates between 4th and 7th weeks. With PRUV, left obliterates. Intra or extrahepatic.

Associations:
Single UA
Chromosomal anomalies, 18
Noonan
Situs anomalies
Congenital cardiac, renal and GIT
Vertebral anomalies

274
Q

Cloacal malformation is

A

a spectrum of congenital hindgut and GU anomalies resulting from failure of cloacal division early in embryogenesis.

Cloacal dysgenesis - complete absence of perineal openings

Classic - convergence of urinary, genital and hindgut structures into single channel

Urogenital sinus - common channel draining urethra and vagina at expected location of normal urethra with normally positioned anus

Posterior cloaca - urogenital sinus deviates, draining into anterior wall of rectum

Cloacal variant - urogenital sinus with anteriorly displaced anus

275
Q

Cloacal malformation pathology

A

Arrested development. Cloaca present until 5th week when urorectal septum divides urogenital sinus from anorectum. Urogenital sinus further divides into bladder/urethra and vagina.

276
Q

Cloacal malformation imaging

A

Cystic mass posterior to bladder (hydrocolpos) with fluid fluid or fluid debris level.
Uterine and vaginal duplication is observed in 80% of cases with hydrocolpos.
Additional anomalies in GU, bowel, lumbosacral
Abnormal genitalia and absent anal dimple
Absence of normal meconium filled t1 hyperintense rectum on MR

277
Q

Hepatoblastoma is

A

the most common primary malignant liver tumour in children under four years. Abdominal mass and raised AFP. Rare with slight male predilection.

278
Q

Hepatoblastoma pathology

A

Well circumscribed large masses.

Notable subtypes
- epithelial (most common). Includes fetal, embryonal and small cell undiff
- Mixed: epithelial and mesenchymal. more calcifications.

AFP frequently elevated.

Major and minor histo categories

Major:
Epithelial (fetal, embryonal, macrotrabecular)
Mixed
Small cell undifferentiated
Rhabdoid

Minor:
cholangioblastic
keratinising squamous epithelium
interstinal glandular epithelium
teratoid
rhabdomyoblastic
chondroid
osteoid

279
Q

Hepatoblastoma associations

A

Beckwith WIedemann
Hemihypertrophy
FAP
FAS
Gardner syndrome
Glycogen storage disease
Biliary atresia

280
Q

Hepatoblastoma imaging

A

XR
RUQ mass may have calcifications

US
Echogenic soft tissue mass, can be heterogenous. Can have calcifications

CT
Well defined heterogenous mass, usually hypoattenuating. Areas of necrosis and haemorrhage. Chunky calcifications.

MRI
T1 hypo
C+ heterogenous enhancement
T2 generally hyper, can be heterogenous

281
Q

Hepatoblastoma differentials

A

hepatic mesenchymal hamartoma
infantile hemangioendothelioma
hepatic mets
HCC
rhabdomyosarcoma of biliary tree

282
Q

Congenital talipes equinovarus is

A

the most common anomaly affecting the feet.

Synonymously used with the term club foot although that is more encompassing and includes
- talipes equinovarus (forefoot adduction, inversion of heel and plantar flexion of ankle)
- talipes calcneovalgus (dorsal flexion of the forefoot with plantar surface facing laterally)
- metatarsus varus (inversion and adduction of the forefoot alone)

283
Q

Congenital talipes equinovarus pathology and associations

A

Deformity involving the ankle and subtalar joints. Fixed by joint ligamentous and tendinous contractions.

May be a familial predilection.

Associations (fuckloads)
Chromosomal
- 18q deletion
- trisomy 18
- Wolf Hirschhorn
Other syndromes
- Freeman Sheldon
- Meck gruber
- Roberts
Renal anomalies
- prune belly
- renal agenesis
Connective tissue disorders
- Marfan
- Ehlers danlos
Spinal anomalies
- caudal regression
- diastematomyelia
- spina bfida
Skeltal dysplasia
- diastophic

284
Q

Congenital talipes equinovarus imaging

A

hindfoot equinus: lateral talocalcaneal angle <35

hindfoot varus: talocalcaneal angle less than 20

Metatarsus adductus: adduction and varus deformity of the forefoot, talus to first MT angle >15

talonavicular subluxation

US
tib and fib in sam image as medially deviated foot, foot may appear plantarflexed

285
Q

Autosomal recessive polycystic kidney disease is

A

one of the paediatric cystic renal diseases. Enlarged echogenic kidneys with multiple small cysts. May have liver involvment with featrures of hepatic fibrosis

One of the commonest inheritable infantile cystic renal diseases but far less common than ADPKD which affects adults.

286
Q

Autosomal recessive polycystic kidney disease pathology and associations

A

Mutation in PKHD1 gene on chromosome 6p.
Bilateral symmetric microcystic disease in distal convulted tubles and collecting ducts.

Perinatal type - mopst common. oligohydramnios and pulmonary hypoplasia. Minimalhepatic fibrosis

Neonatal type - minmal hepatic fibrosis

Infantile type - moderate periportal fibrosis

Juvenile type - gross hepatic fibrosis

Associations
Carolis
Congenital hepatic fibrosis
Multiple biliary hamartomas

287
Q

Autosomal recessive polycystic kidney disease imaging

A

US
Oligohydramnios
cysts initially too small to resolve, rarely exceed 1-2cm
Enlarged and echogenic kidneys
Medullary pyramids intially hypoechoic, gives a peripheral halo
CM differentiation eventually lose
liver changes; carolis, coarse echotexture, portal hypertension

MRI
large kidneys, increased T2 signal
oligohydramnios

288
Q

Autosomal recessive polycystic kidney disease ddx

A

ADPKD
Beckwith wiedemann
Laurence moon beidl
Meck Gruber
Renal dysplasia with trisomy 13

289
Q

Polydactyly is

A

more than the usual number of digits. Broadly catergorised into preaxial (radial), post axial (ulnar), and central

290
Q

Pre axial polydactyly assoc

A

Down syndrome
VATER association
Holt-Oram syndrome
Greig cephalopolysyndactyly syndrome
Carpenter syndrome
Laurin-Sandrow syndrome
Fanconi anaemia

291
Q

Post axial polydactyly assoc

A

trisomy 13
Meckel Gruber syndromee
oral-facial-digital syndrome (OFDS)
skeletal dysplasias
Ellis-van Creveld syndrome
asphyxiating thoracic dysplasia - Jeune syndrome

292
Q

Syndactyly is

A

congenital fusion of two or more digits. May be soft tissue or bone.

293
Q

Syndactyly assoc

A

Fuckloads. Can be isolated.

Aneuploidic syndromic
triploidy: tend to affect the 3rd and 4th digits of the hands

Non-aneuploidic syndromic
acrocephalosyndactylies
type I: Apert syndrome
type II: Crouzon syndrome

acrocephalopolysyndactylies
amniotic band syndrome
Gorlin syndrome
Pallister-Hall syndrome
Poland syndrome
prune belly syndrome
VACTERL association
Down syndrome
neurofibromatosis typ

Non-syndromic
isolated polydactyly, a.k.a. polysyndactyly
isolated brachydactyly, a.k.a. brachysyndactyly
isolated ectrodactyly

294
Q

Clindactyly is

A

radial angulation at an IPJ, typically fifth finger

295
Q

Clindactyly assoc

A

Often isolated and normal.

aneuploidic syndromic
Down syndrome: may be seen in up to 60% of infants with Down syndrome 3
Klinefelter syndrome
trisomy 18
Turner syndrome

non-aneupliodic syndromic
Cornelia de Lange syndrome
Feingold syndrome
Roberts syndrome
Russell-Silver syndrome
Fanconi anaemia

non-syndromic
macrodystrophia lipomatosa
brachydactyly type A3

296
Q

Achondroplasia is

A

a congenital genetic disorder resulting in rhizomelic dwarfism. Most common skeletal dysplasia.

297
Q

Achondroplasia pathology

A

mutation in the fibroblast growth factor gene 3 on 4p16.3
Causes abnormal cartilage formation.

Gain of function mutation with constitutive activation of an inhibitroy signal. All bones form by endochondral ossification affected. Membranous ossification not affected.

298
Q

Achondroplasia imaging

A

Antenatal
- short femur length
- trident hand (2/3/4 finger separation)
- frontal bossing
- depressed nasal bridge

Cranial
- large cranial vault with small skull base
- frontal bossing and depressed nasal bridge
- narrow FM
- cervicomedullary kink
- elevation of the brainstem
- communicating hydrocephlus
- large anterior fontanelle

Spinal
- posterior vert scalloping
- decreasing interpedicular distance
- gibbus (thoracolumbar kyphoisis with bullet shaped vert)
- short pedicle canal stenosis
- laminar thickneing
- widening of the intervertebral discs
- increased sacral lumbar angle

Chest
- anterior flaring of ribs
- anteropoasterior narrowing of the ribs

Pelvis/hips
- decreased acetabular angle
- tombstone iliac wings
- trident acetabulum
- champagne glass pelvic inlet
- short sarcoiliac notches

Limbs
- metaphyseal flaring, trumpet
- rhizomelic shortening
- long fibula
- boweing to mesial segment
- trident hand
- chevron sign
- short proximal phalanges

299
Q

Achondroplasia DIFFYS

A

achondrogenesis
campomelic dysplasia
thanatophorix dysplasia
chondroectodermal dysplasia

300
Q

osteogenesis imperfecta is

A

heterogenous group of congenital non sex linked genetic disorders of collagen type 1 production

hallmark feature is osteoporosis and fragile bones, blue sclera, dental fragility and hearing loss

variable depending on type

assoc with congen cataracts

301
Q

osteogenesis imperfecta pathology

A

disturbance of type 1 collagen synthesis, predominant protein of extracellular matrix of most tissues

mutation in one of the two genes for type 1 collagen. COL1A1 and COL1A2 which encode the a2 and a2 polypeptide chains.

can be sporadic or autosomal. most commonly autosomal dominant

302
Q

osteogenesis imperfecta imaging

A

Prenatal
- decreased calvarial ossification
- evidence of fractures
- presence of polyhydramnios

head/neck/spine
- basilar invagination
- wormian bones
- kyphoscoliosis
- vertebral compression fractures
- codfish vert
- platyspondyly

Chest
- excavatum or carinatum
- accordian ribs

Pelvis
- protrusio acetabuli
- coxa vara

General
- OP
- gracile overtubulated bones
- cortical thinning
- hyperplastic callues
- popcorn calcification
- zebra striple sign (bisphosphanates)
- pseudoarthoroses at fractures

303
Q

Fetal hydrocephalus is

A

extension of fetal ventriculomegaly where dilatation is more severe. Lateral ventricle diameter >15mm.

304
Q

Fetal hydrocephalus pathology and associations

A

Obstructive or non obstructive. Can have X linked.

Central nervous system anomalies: (more common and reported in more than 80% of cases):
- aqueductal stenosis: one of the commonest causative associations
- Chiari malformations
- neural tube defect(s)
- Dandy-Walker malformation
- encephalocele
- alobar holoprosencephaly

Non-central nervous system anomalies:
craniofacial
acrocephalosyndactylia
congenital cardiovascular anomalies
gastrointestinal anomalies
genitourinary anomalies
congenital renal fusion
skeletal anomalies
clubfeet

Syndromes:
- Meckel-Gruber syndrome
- Miller-Dieker syndrome

Chromosomal anomalies: may be present in ~20% of cases
- trisomy 21 8
- triploidy 8

305
Q

Fetal hydrocephalus imaging

A

Ventriculomegaly
Lateral ventricles >15mm
Parenchymal thinning
3mm between choroid and ventricle margin

306
Q

Aqueduct stenosis is

A

most common cause of congenital obstructive hydrocephalus

307
Q

Aqueduct stenosis pathology

A

Congenital
- webs or diaphragms
- gliosis

Acquired
- extrinsic compression (tumours, avms)
- intrinsic (infection, haemorrhage, idiopathic)

308
Q

Aqueduct stenosis imaging

A

Hydrocephalus
Near normal posterior fossa
Secondary thinning of the cortical mantle and macrocephaly

309
Q

Choroid plexus cysts are

A

benign, often transient typically resulting from an infolding of the neuroepithelium

310
Q

Choroid plexus cysts (antenatal) associations

A

Soft marker

Trisomy 18, 21
Klinefelter syndrome
Aicardi syndrome

311
Q

Choroid plexus cysts (antenatal) imaging

A

Sonolucent cysts about the lateral ventricles 2nd trimester
should go by 26-28weeks
Warrants closer surveillance, particularly if large, bilateral, multiple, abnormal maternal screening

312
Q

Fetal intracranial haemorrhage pathology

A
  • mechanical trauma
  • severe fetal hypoxia
  • fetal thrombocytopaenia
  • maternal thrombocytopaenia (alloimmune, idiopathic, vonwillebrand, medications)
  • tumour
  • twin twin transfusion
  • demise of a co twin
313
Q

Fetal intracranial haemorrhage imaging

A

variable depending on location and age
- can be seen as irregular hyperechoic mass
- as it matures, porencephalic cyst formation or fetal intracranial calcification

314
Q

Anencephaly is

A

the most severe neuralt tube defect, complete absence of cortical tissue. Ranges from holocrania to merocrania.

315
Q

Anencephaly pathology and associations

A

Failure of closure of the antral end of the neural tube, happens at day 24.

Markers
- highly eelvated MSAFP

316
Q

Anencephaly imaging and ddx

A

US100% accurate at 14 weeks.

  • no tissue above the orbits and absent calvarium
  • If small amount of tissue then exencephaly
  • low CRL
  • Frog eye, mickey mouse
  • polyhydramnios

Ddx
- severe microcephaly
- amniotic band syndrome

317
Q

Encephalocoele is

A

a form of NTD where brain tissue and overlying meninges herniate through a defect in the cranium

318
Q

Encephalocoele pathology and associations

A

Form of NTD, due to failure of fusion of the cartilginous neurocranium, membranous neurocranium or viscerocranium.

Associations
- Chiari malformations
- Dandy walker malformations
- Meckel Gruber

319
Q

Encephalocoele classification

A
  • Occipital (75%)
  • Sincipital (frontoethmoidal, interfrontal, craniofacial clefts)
  • Convexity
  • basal (10%, intrasphenoidal, temporal, transsphenoidal or whatever)
320
Q

Encephalocoele imaging

A

Antenatal US
- may be purely cystic or echoes from brain tissue

CT/MRI
- better for defining anatomy and contents

321
Q

Microcephaly is

A

a term for a small head. Usually defined as HC <3rd centrile or lower than 2 SD below the mean. May be primary (never forms) or secondary (normal develoment arrested by some insult)

322
Q

Fetal toxoplasmosis clinical

A

The majority of infants (~75%) are asymptomatic. For those symptomatic, the severity of symptoms is related to the trimester of pregnancy when transmission occurred 11:

first trimester: fetal death

second trimester: retinochoroiditis, microcephaly, and intellectual disability

third trimester: lymphadenopathy, hepatosplenomegaly, eye injuries, and brain calcifications

Serologic
- PCR on amniotic fluid
- cordocentesis for igM antibodies

Complications
- hydrops
- after birth sequelae

323
Q

Fetal toxoplasmosis imaging

A
  • hydrocephalus
  • IC calcification
  • microcephaly
  • intrahepatic calc
  • hepatosplenomegaly
  • ascites
324
Q

Congenital cerebral toxoplasmosis imaging

A
  • multiple calcifications
  • cerebral/cerebellar atrophy
  • encephalomalacia
  • ventriculomegaly
  • micro or macrocephaly, hydrocephalus
  • cortical abnorm, rare
  • chorioretinitis
325
Q

Congenital rubella clinical

A

Features
- sensorineural deafness
- cataracts
- cardiac anomalies
- VSD/ToF
- intellectual disability
- microcephaly
- IUGR

Worst during 1st trimester

Serology
- maternal rubella specific igG and IgM

326
Q

Congenital rubella imaging

A
  • hydrops, if severe
  • cardiac anomaly
  • IUGR
  • subependymal cysts
  • small HC
  • periventricular calc
  • white matter hypo
  • ventriculomegaly

non specific

327
Q

Congenital CMV clinical

A

most common
mostly asx

possible features
- jaundice/hepatosplenomegaly
- microcephaly
- sensorineural deafness
- chorioretinitis
- petechiae
- blueberry muffin rash
- intellectual disability
- seizures

complications
- encephalitis
- hydrops

328
Q

Congenital CMV imaging

A
  • intracranial calv
  • hydrocephalus
  • heterogenous parenchyma
  • microcephaly
  • intraventricular adhesiosn

MRI
- white matter lesions
- delayed myelination
- cysts, periventricular and temporal pole
- migrational abnormalities

other
- intrahepatic calc
- hepatomegaly
- IUGR
- echogenic bowel

329
Q

Spinal dysraphism is

A

broad group of malformations affecting the spine and surrounding structures. Form of NTD

330
Q

Spinal dysraphism pathology

A

NTD formed by lengthwise closure of the nural plate in the embryo dorsum

Upper part forms forebrain, midbrain and hindbrain. Lower part forms spinal canal.

Dysraphism is when teh neural palte does fuse completely in the lower segment.

331
Q

Spinal dysraphism classification

A

Open: when cord and covering communicat ith outside
- myelomeningocoele
- myelocoele
- hemimyelomeningocoele and myelocoele

Closed: cord is covered by other nromal mesenchymal elements

Closed with SC mass
- lipoma with dural defect (lipomyelomeningocoele, lipomyelocoele)
- terminal myelocystocele
- meningocoele
- limited dorsal myeloschsis

Closed without SC mass
- posterior spina bfida
- intradural lipoma
- filar lipoma
- tight filum terminale
- persistent terminal ventricle
- disorders of midline notochordal integration (dermal sinus, enteric fistual, neuroenteric cyst, split cord malformations)
- disorders of notochorodal formation (caudal regression 1 and 2, segmental dysgenesis)

332
Q

Caudal regression syndrome

A

represents a spectrum of structural defects of the caudal region, varying from isolated partial coccyx agensis to lumbosacral agenesis

333
Q

Caudal regression syndrome imaging

A

variable

  • LS vertebral body dysgenesis/hypoplasia
  • usually below L1, most often limited to sacrum
  • truncated blunt spinal cord terminating above expected level; wedge or cigar shaped conus
  • severe canal narrowing rostral to last intact vertebra
  • assoc anomalies

Antenatal
- as above
- shield sign; opposed iliac bones
- low CRL

MRI
-as above. two groups
- group 1; blunt conus, dilated central canal or cyst. usually major deformity
- group 2; conus elongated and tethered by thick filum or lipoma, lower than expected level. neurologic sx worse.

334
Q

Sacrococcygeal teratoma is

A

commonest congenital tumour in fetus and neonate. female predilection.

335
Q

Sacrococcygeal teratoma classification

A

Pathology base
- benign (mature); more common
- malignant (immature)

Location based
1. only outside the fetus, may have small pre sacral component
2. extra fetal with intrapelvic presacral extension
3. extra fetal with extension through pelvis into abdomen
4. tumour developing entirely in the fetal pelvis

336
Q

Sacrococcygeal teratoma imaging

A

XR
- large mass
- may have calc

CT
- heterogenous, bone fat calc etc

US
- more cystic with anechoic components
- echogenic solid parts/type
- marked hypervascularity

MRI
T1: fat, low calc
T2: high signal fluid, calc low
T2*: calc
C+: enhancing solid components

337
Q

Sacrococcygeal teratoma complications

A

high output cardiac failure, hydrops
ureteric obstruction
GIT obstruction
nerve compression
anaemia
dystocia
tumour rupture

338
Q

Sacrococcygeal teratoma differentials

A

chordoma
myelocystocoele
meningocoele

low lying neuroblastoma
low lying rhabdomyosacroma
small round blue cell tumour
enteric cyst

339
Q

OHSS is

A

a complication of ovarian stimulation for IVF consisting of ovarian enlargement, extravascular accumulation and intravascular depletion.

340
Q

OHSS path

A

massive cystic ovarian enlargement and fluid shift from intravascular compartment into peritoneal, pleural or pericardial spaces due to increased capillary permeability of mesothelial surfaces. Vasoactive factors from multiple corpora lutea.

very rare sporadic forms assoc with precocious puberty and hypothyroidism (van wyk grumback)

341
Q

OHSS imaging

A

bilateral enlarged ovaries, multiple cysts, spoke wheel. ascites, effusions

342
Q

OHSS grading

A

Modified Golan

Mild - ovarian enlargement
1. distension
2. nvd, ovaries 5-12cm
Moderate - assoc ascites
3. mild ohss + ascites
severe - hypovolaemia
4. moderate + ascites/hydrothorax
5. change in blood volume, coags etc

343
Q

herlyn werner wunderlich syndrome is

A

mullerian duct anomaly with assocaited mesoneprhic duct anomaly

triad of
- uterus didelphys
- renal agenesis (or other renal anomalie)
- obstructed hemivagina