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3 differentials > obstetrics > Flashcards

obstetrics Flashcards

1
Q

Placenta accreta

A
  • Low lying placenta
  • thin overlying myometrium
  • vessels extend into bladder

MANAGEMENT

  • Ask for growth charts
  • need caesarian hysterectomy
  • MRI pelvis to charactrise extent
  • Delivery at tertiary referral
  • Input from intervetional radiology
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2
Q

Retroverted utereus with caesarian scar ectopic

A

Spiel

  • Transabdominal and TV images
  • Uterus is retroverted
  • Normal endometrium

KILLER

  • Intrauterine pregnancy
  • Inferior aspect of uterus
  • above cervix
  • Abnormal location
  • corpus luteum cyst

MANAGEMENT

  • Urgent referral to tertiary referral
  • Gynaecology referral
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3
Q

Haemorrhagic cyst

Clinical history

  • Acute abdominal pain, presented to accident and emergency
A
  • TVUS
  • Uterus is anteverte

KILLER

  • Correlate endometrial stripe with gestation
    • Likely secretory phase
  • Cystic adnexal structure
  • lace like fish net pattern
  • Absent colour flow
  • Thickened tissue around- ovarian torsion!!!!

MANAGEMENT

  • Referral to tertiary centre for detorsion
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4
Q

Sequestration

A
  • Hyperechoic mass
  • SIDE
  • SITE
  • SIZE
  • dipslaces heart
  • compresses contralateral lung
  • STOMACH BUBBLE LOCATION
  • arterial thoracic vessel

DIFFERENTIAL

  • CPAM
  • sequestration
  • diapragmatic hernia
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5
Q

Encephalocele

A
  • Cystic structure in continuation with the posterior skull
  • Disruption of posterior skull
  • herniation of contents posteriorly

LOOK FOR

  • ARPKD
  • poyldactyly
    *
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6
Q

Multicystic dysplastic kidneys

A
  • Cystic dilatations in the kidney
  • Do not appear to communicate
  • Kidney is enlarged

Differential

  • Hydronephrosis
  • PUJ

Management

  • Referral to Tertiary
  • nephrectomy
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7
Q

Meckel Gruber

A
  • Enecephalocele-
    • cystic structure at posterior aspect of cranium
    • Absent posterior skull
  • ARPKD
    • Bilateral enlarged
    • hyperechoic
  • Polydactyly

Management

  • 1/4 recurrence
  • autosomal recessive
  • POLYDACTYLY
  • Look at hands
  • look at kidneys
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8
Q

Omphalocele

A
  • Well defined
  • Anterior abdomen
  • ? cord insertion
  • Contents
    • liver
    • bowel

Management

  • Tertiary referral
  • karyotyping
    *
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9
Q

Cervical incompetence

A
  • <25mm
  • Bulging pattern T→Y→V→U→bulging

Management

  • Cerclarge
  • Progesterone pessary
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10
Q

Placenta Previa/low lying

A
  • <25 mm from internal os

DO

  • TV scan with empty bladder
  • Vasa previa – Doppler on internal os

Management

  • F/U 32 weeks
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11
Q

vasa praevia

A
  • Vessels crossing the internal os

Look for

  • Low lying placenta
  • Velamentous insertion
  • Succenturiate lobe

Management

  • C-section delivery before onset of labour.
  • Anterior previa important as CS will cross
  • Velamentous – 90%
  • Succenturiate – 10%
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12
Q

Placental sonolucencies

extensive >3

A
  • > 3 lucencies in placenta

Looking for

  • IUGR
  • Oligohydramnios
  • Vascular flow
  • consider placenta accreta

Management

  • F/U scans for IUGR/oligo
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13
Q

Placental chorioangioma

A
  • Low echogenic placental lesion
  • well defined
  • internal doppler flow
  • >5cm or multiple ↑complication

Follow up

HIP

  • Hydrops
  • IUGR
  • Polyhydramnios
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14
Q

Single umbilical cord

A

Look for

  • Other signs aneuploidy
  • Cardiac/renal anomaly
  • IUGR

Management

  • Isolated 3rd trimester USS for IUGR
  • Non-isolated 3° referral & karyotyping
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15
Q

POLYHYDRAMNIOS

A

DEFINITION

  • AFI > 24 cm
  • MVP > 8 cm
  • MVP > 7 cm twins

CAUSES

  1. Idiopathic
  2. ​Maternal
    • GDM
    • HTN/preeclampsia
    • CCF
  3. Fetal
    • CNS – can’t drink
    • Obs to GI tract
    • Cardiac anomaly
    • Skeletal dysplasia
  • LOOK FOR
    1. IUGR = bad outcome
    2. Face anomalies
    3. GI obstruction
  • Presence of stomach
    1. CHD
    2. Limbs
    3. ↑AC for diabetic baby
  • Management
    • Tertiary referral
    • amnioreduction
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16
Q

OLIGOHYDRAMNIOS

Spiel- The Paucity of amniotic fluid makes interpretation difficult.

A

DEFINTION

  • AFI < 5 cm
  • MVP < 2 cm
  • MVP < 3 cm twins

CAUSE

  • -Demise
  • -Renal abnormality
  • -IUGR
  • -PROM – most common
  • -Post-dates
  • -Chromosomal
  • -Placental insufficiency

LOOK FOR

  • -Ask about any PV d/c
  • -Aneuploidy markers
  • -Renal tract obstruction -Renal agenesis

MANAGEMENT

  • Tertiary referral ±karyotype
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17
Q

HYDROPHS

There is fluid in 1 cavity and I am looking for fluid in other compartments for evidence of hydrops

A
  • Hydrop
  • ≥2 cavities
    • pericardial
    • pleural
    • ascites
    • skin oedema

CAUSES

  • Immune hydrops
    • Rh
  • Non-immune hydrops
    • Mass – chest most commonneu
    • Aploidy
    • Anaemia
    • AVM
    • Cardiac anomaly
    • TORCH

LOOK FOR CAUSE

  • MCA PSV

MANAGEMENT

  • Tertiary referral
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18
Q
  • Exencephaly (brain left)
  • Anencephaly (no brain)
  • Acrania (entire cranium absent)

spiel-

  • Genetic counselling
  • MEGA FOLATE
    • next pregnancy as at ↑risk of all neural tube defects.
A

ASSOCIATIONS

Neural tube defects

LOOK FOR

  • Other neural tube defects
  • Clenched hands

MANAGEMENT

  • Incompatible with life
  • Offer termination.
  • Genetic counselling
  • MEGA FOLATE in next pregnancy
    • ↑risk of all neural tube defects.
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19
Q

Holoprosencephaly

alobar/semilobar /lobar

A

CAUSE

  • T13
  • Multiple facial anomalies

LOOK FOR

  • Proboscis
  • Cyclops
  • Hypoplastic L heart
  • Other anomalies
    • rockerbottom feet

MANAGEMENT

  • Tertiary referral ±karyotyping
  • Usually lethal

SPIEL

Genetic counselling and MEGA FOLATE in next pregnancy as at ↑risk of all neural tube defects.

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20
Q

HYDRANCEPHALY

Falx present cf holoprosencephaly

No rind of brain cf aqueduct stenosis

A

FINDINGS

  • Falx present cf holoprosencephaly
  • No rind of brain cf aqueduct stenosis

ASSOCIATIONS

  • TORCH

MANAGEMENT

  • Tertiary referral
  • -TORCH screen
  • ±karyotyping
  • Poor prognosis
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21
Q

AQUEDUCT STENOSIS

A

CAUSES

  • X-linked hydrocephalus
  • -TORCH
  • -Dandy-Walker
  • -Chiari II
  • -Agenesis CC
  • -VACTERL

LOOK FOR

  • Clenched hands for X-linked

MANAGEMENT

  • Tertiary referral
  • TORCH screen ±karyotyping
  • Poor prognosis

COMPLICATIONS

  • Birth issues due to dystocia of the head ↑HC
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22
Q

Abnormal cavum septum pellucidum

  • Holoprosencephaly
  • Agenesis of SP
  • Agenesis of CC
A

LOOK FOR

  • -Schizencephaly
  • -Other neuro defects

MANAGEMENT

  • Tertiary referral
  • Variable outcome
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23
Q

VENTRICULOMEGALY

SPIEL

  • Scan in real-time for intracranial abnormalities.
  • In particular cerebellum shape and absent CC.
  • Review 1st trimester screening results for aneuploidy risk and TORCH infections.
A

DEFINITION

  • Mild > 10 mm
  • Severe > 15 mm

ASS./CAUSE

  1. -Isolated
  2. -Aneuploidy
  3. -Agenesis of CC
  4. -Chiari II
  5. -Encephalomalacia

LOOK FOR

  1. Other signs of aneuploidy
  2. lemon shaped skull
  3. banana cerebellum
  4. Absent CC
  5. Myelomeningocele

MANAGEMENT

  • -Tertiary referral
  • ±Karyotype
  • -TORCH screen
  • ±MRI

SPIEL

Scan in real-time for intracranial abnormalities. In particular cerebellum shape and absent CC. Review 1st trimester screening results for aneuploidy risk and TORCH infections.

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24
Q

CHOROID PLEXUS CYST

SPIEL

  • May be seen in isolation.
  • Correlate with FTS results.
  • Careful examination for other signs of aneuploidy in particular T18;
    • clenched hands
    • IUGR.
  • If isolated nil further.
A
  • Aneuploidy
  • -T18 in particular
  • -T21 with other soft signs

LOOKING FOR

  • IUGR
  • strawberry head
  • cardiac defects
  • Clenched hands
  • Other signs of aneuploidy

MANAGEMENT

  • Isolated – nil
  • Associated – tertiary referral with view to karyotyping
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25
Q

CEPHALOCELE

SPIEL

Counselling and will need MEGA FOLATE in next pregnancy as at ↑risk of all neural tube

A

Associations

  1. Other CNS abnormalities
  2. Meckel-Gruber
  3. Aneuploidy

LOOK FOR

  1. Meckel Gruber
    1. Renal cystic dysplasia
    2. polydactyl
  2. Aneuploidy markers
  3. DDx – cystic hygroma

MANAGEMENT

  1. -Tertiary referral
  2. -Offer karyotyping if other signs of aneuploidy, if not then no need.
  3. Counselling and will need MEGA FOLATE in next pregnancy as at ↑risk of all neural tube
26
Q

VEIN OF GALEN

A

ASSOCIATIONS

  1. Coarctation of the aorta
  2. Transposition of great arteries
  3. Heart failure

LOOK FOR

  1. CHD
  2. Cardiomegaly
  3. Hydrops

MANAGEMENT

  • Tertiary referral
27
Q

CHIARI

A

DESCRIPTION

  • Frontal scalloping
  • Banana cerebellum
  • Cisterna magna <2mm

ASSOCIATIONS

  • Open neural tube defect (may be occult) ie myelomeingocele
  • Ventriculomegaly
  • Triangular post ventricles
  • Myelomeningocele
  • Aneuploidy markers (T13/18)

MANAGMENT

  • Tertiary referral
  • Offer karyotyping if other signs of aneuploidy, if not then no need.
  • Counselling
  • Need MEGA FOLATE in next pregnancy as at ↑risk of all neural tube
28
Q

Cystic posterior fossa mass

DDx

  1. -Blake’s pouch cyst
  2. -Dandy-Walker Complex
  3. -Vermian hypoplasia
  4. -Megacisterna magna (>10 mm)
A

Associations

  1. -Other CNS abnormalities
  2. -Aneuploidy (T18)
  3. -Meckel-Gruber
  4. -Multiple syndromes
  5. -Isolated cases have good outcome

Look for

  1. -CNS abnormalities
  2. -Other signs of aneuploidy
  3. -Cephalocele
  4. renal cystic dysplasia
  5. polydactyl

Management

  1. -Tertiary referral
  2. ±karyotyping

Spiel for ↑CM

  • Tertiary referral for confirmation of isolated cisterna magna and consideration of karyotyping
29
Q

NUCHAL THICKNESS AND TRANSLUCENCY

1st Trimester- >3mm

2nd Trimester - >6 mm

A

ASSOCIATIONS

  1. Aneuploidy
  2. -Many conditions
  3. -Cystic hygroma consider Turners ( LOOK FOR SEPTATIONS)
  4. -CHD
  5. -Skeletal dysplasia

LOOK FOR

  1. Other signs of aneuploidy
  2. -↑↑NT±septations for cystic hygroma
  3. -Skeletal dysplasia

MANAGEMENT

  1. -Tertiary referral
  2. -Correlate with FTS background risk and bloods.
  3. -Offer karyotyping if at high risk.
  4. -Position of placenta for CVS if <16 weeks

SPIEL

  • Patient requires genetic counselling with a view to karyotyping.
  • I am looking at the placenta position for potential CVS.
30
Q

Cystic hygroma

“spoke wheel” septations

A

ASSOCIATIONS

  1. -Turner (XO)
  2. -T21
  3. -Other aneuploidy
  4. -CHD
  5. -Hydrops

LOOK FOR

  1. -Other anomalies
  2. -Hydrops
  3. -CHD
  4. -Skull defect to suggest DDx
    1. cephalocele, other neck mass

MANAGEMENT

  1. -Tertiary referral
  2. -Correlate with FTS background risk and bloods.
  3. Patient requires genetic counselling with a view to karyotyping.
31
Q

Absent / hypoplastic nasal bone

1st – absent

2nd - < 3mm

A

ASSOCIATIONS

  1. -T21 – 60%
  2. -T18
  3. -T13
  4. -Normal variant Afro-Caribbean, Asians

LOOK FOR

  1. Other signs of aneuploidy
  2. -↑NT
  3. -Tricuspid regurg
  4. -Deep A waves in DV
  5. -Position of placenta for CVS

MANAGMENT

  1. Correlate with FTS
  2. background risk and bloods.
  3. Offer karyotyping if at high risk.
32
Q

Cleft lip

Cleft lip/palate

A

ASSOCIATION

  1. -Aneuploidy
  2. ->200 syndromes

CHECK FOR

  • Cleft palate

MANAGMENT

  1. Tertiary referral
  2. -Delivery in paediatric centre as will have issues with feeding
33
Q

Pericardial effusion

>2mm

There is fluid in 1 cavity and I am looking for fluid in other compartments for evidence of hydrops

A

ASSOCIATIONS

  1. -CHD
  2. -TORCH
  3. -Hydrops

LOOK FOR

  1. -Hydrops
  2. -Brian/liver calcs for TORCH

MANAGEMENT

  1. -Tertiary referral for review
  2. -TORCH screen
34
Q

ECHOGENIC CARDIAC FOCUS

I am looking carefully for other markers of aneuploidy. In isolation this is considered a normal variant.

A

ASSOCIATIONS

  1. Isolated = normal variant
  2. -Aneuploidy T21/T13
  3. -Large DDx - rhabdomyoma

LOOK FOR

  1. -Other signs of aneuploidy
  2. -Heart defects

MANAGEMENT

  1. Review FTS
  2. Isolated – Nil Mx
  3. ↑FTS or associated abnormalities – genetic counselling
35
Q

VSD

A

ASSOCIATIONS

  1. -CHD
  2. -Aneuploidy

LOOK FOR

  1. CHD – look thoroughly
  2. -Review whole fetus for T21 markers

MANAGMENT

  1. Tertiary referral with view to karyotyping
  2. -Review FTS results
36
Q

AVSD

Endocardial cushion defect

A

ASSOCIATIONS

  1. -T21 – 40%
  2. -Heterotaxia syndromes

LOOK FOR

  1. -Aneuploidy markers

MANAGEMENT

  1. -Tertiary referral
  2. ±karyotyping
37
Q

Transposition of great arteries

-Parallel outflow tracts

A

ASSOCATIONS

  1. -Rarely associated with aneuploidy

LOOK FOR

  1. Other heart defects

MANAGEMENT

  1. Foetal echo for confirmation
  2. Correctable condition postnatal. Delivery in specialised paediatric centre eg Royal Children’s
38
Q

Tetralogy of Fallot

  1. -RV outflow obs
  2. -RV hypertrophy
  3. -Overriding aorta
  4. -VSD
A

ASSOCIATIONS

  • 45% aneuploidy

LOOK FOR

  1. Other heart defects
  2. Aneuploidy markers

MANAGEMENT

  1. Karyotyping
  2. Good prognosis if isolated. 3° delivery & surgery
39
Q

Sequestration

  • ↑echo mass
  • Supply from aorta
A

ASSOCIATIONS

  1. -CDH
  2. -Cardiac
  3. -Pulmonary – CPAM
  4. -GI anomalies
  5. -?Aneuploidy

LOOK FOR

  1. Systemic arterial supply
  2. -DDx – CPAM, neuroblastoma, liver CDH

MANAGMENT

  1. -Tertiary referral
  2. -Serial USS for hydrops and polyhydramnios
  3. -Post natal CT
  4. -No karyotyping - Kristy
40
Q

CPAM

  • Cystic, solid or mixed
  • No systemic arterial supply
A

Look for

  1. -Hydrops
  2. -Polyhydramnios
    1. Bad prognosis
  3. -Normal stomach bubble DDx CDH
  4. -Renal anomalies

Association/Cause

  1. -Not associated with aneuploidy
  2. -Other lung anomalies
  3. -Renal anomalies

-DDX

  1. –CDH
  2. –Sequestration
  3. –Bronchial atresia

Management

  1. -Serial USS for hydrops and polyhydramnios
  2. -Post natal CT
41
Q

DIAPHRAGMATIC HERNIA

A
  1. CNS, cardiac, renal & spinal anomalies
  2. -Aneuploidy
  3. -Syndromes

LOOK FOR

  1. -Lung to head ratio
  2. -Other signs of aneuploidy and anomalies

MANAGMENT

  1. -Genetic counselling with view to karyotype.
  2. -Consideration of foetal MRI.
  3. Delivery in tertiary paediatric centre for surgical intervention
42
Q

OMPHALOCELE

A

SPIEL

  1. There is an anterior abdominal wall defect;
  2. I am trying to determine if it is an omphalocele or gastroschisis.
  3. I am looking for features such:
    • insertion of the cord,
    • covering membranes
    • cauliflower appearance.

LOOKING FOR

  1. -Polyhydramnios
  2. -Other signs of aneuploidy and anomalies
  3. -Bowel containing only – worse prognosis

ASSOCIATIONS

  1. -Aneuploidy
  2. -Cardiac & GI abnormalities
  3. -Beckwith-Wiedemann

MANAGEMENT

  1. Tertiary referral
  2. -Karyotype
  3. -Delivery tertiary paeds surgical centre
43
Q

GASTROSCHISIS

A

SPIEL

  • There is an anterior abdominal wall defect;
  • I am trying to determine if it is an omphalocele or gastroschisis.
  • I am looking for features such
    • insertion of the cord
    • covering membranes
    • cauliflower appearance.

ASSOCIATIONS

  • -Maternal drug use
  • -<25 yo mother
  • -IUGR
  • -Congenital heart disease
  • -No aneuploidy

LOOK FOR

  • heart anomalies

MANAGEMENT

  1. 3rd trimester F/U
    • IUGR
    • bowel problems (ileus, atresia, obstruction)
  2. Delivery tertiary paeds surgical centre
44
Q

ECHOGENIC BOWEL

A

DESCRIPTION

  1. bright as bone
  2. -mass like
  3. -no shadowing

ASSOCIATIONS

  1. Normal variant
  2. -Aneuploidy T21
  3. -Infection – TORCH
  4. -Ingested blood (abruption or prior amniocentesis)
  5. -Cystic fibrosis
  6. -Bowel ischemia/atresia

MANAGEMENT

  1. FTS consider karyotyping
  2. -TORCH screen
  3. -CF screen
  4. -3rd trim USS for IUGR
45
Q

Absent stomach bubble

Shown with polyhydramnios in image

A

CAUSES

  1. -Potential causes
  2. -Chest mass
  3. -CDH
  4. -VACTERL

ASSOCIATIONS

  1. Obstruction – with poly
  2. mechanical due to mass
  3. atresia oesophagus (VACTERL)
  4. Abnormal swallowing mechanism
  5. Oligohydramnios

MANAGMENT

  1. Tertiary referral
  2. Karyotyping
46
Q

Duodenal atresia

A

ASSOCIATIONS

  1. -Aneuploidy T21
  2. -Cardiac anomalies
  3. -GI anomalies
  4. -IUGR

REFERRAL

  1. -Tertiary referral
  2. -Karyotyping
47
Q

Dilated bowel

  • SB > 7 mm
  • LB > 18 mm

Often eyeball

A

SPIEL

“Look in real time for peristalsis to confirm the tubular cystic structure is bowel”

ASSOCIATIONS

  1. -Aneuploidy T21
  2. -Cystic fibrosis
  3. -Jejunal/ileal atresia
  4. -VACTERL

MANAGEMENT

  1. -F/U
  2. -Tertiary referral if other anomalies
48
Q

Meconium Peritonitis

  1. -Calcifications
  2. -Ascites
  3. ±Meconium pseudocyst
  4. ±dilated bowel
  5. ±Polyhydramnios
A

findings

  1. -Calcifications
  2. -Ascites
  3. ±Meconium pseudocyst
  4. ±dilated bowel
  5. ±Polyhydramnios

Causes

  1. -Bowel atresia
  2. -Cystic fibrosis
  3. -Ischemia
  4. Intussusception
  5. Volvulus

Management

  1. Tertiary referral
  2. -Post natal Ix
49
Q

Umbilical vein varix

A

Cause

  1. -Renal tract mostly
  2. -Can cause anaemia
  3. -May rupture

Look for

  1. -Doppler to confirm Dx and to exclude thrombosis
  2. -MCA PSV

Managment

  1. Tertiary referral
  2. -Monitor to ensure no thrombosis
  3. -Anaemia
50
Q

Megacystis

>7 mm – 1st

>20 mm – 2nd

Eyeball – 3rd

A
  • 1st trim – think aneuploidy
  • 2nd trim – think obstruction
  • Fluid & kidney anomalies

ASSOCIATIONS

  1. -Aneuploidy T13/18
  2. -Urethral obstruction

MANAGEMENT

  1. Tertiary referral with a view to karyotyping
51
Q

Pyelectasis

>4 mm <23 wks

>7mm >23 wks

A

CAUSE

  1. T21 – soft marker
  2. -Isolated
  3. -Renal tract obstruction
  4. -Duplex

LOOK FOR

  • Correlate with FTS and other aneuploidy anomalies
  • Renal tract obstruction

MANAGEMENT

  1. -3rd trimester scan for progression
  2. -Neonatal renal tract USS (even if resolves in 2/3rd)
52
Q

HYDRONEPHROSIS AND HYDROURETER

Looking at bladder for a ureterocele to exclude a duplex kidney with obstruction as cause of appearances

A

CAUSES

  1. -PUJ obstruction
  2. -VUJ obstruction
  3. -Post urethral valve
  4. -Reflux
  5. -1° mega ureter
  6. -Prune belly
  7. -Duplex system

LOOK FOR

  1. Polyhydramnios

Management

  1. Tertiary referral
    2.
53
Q

Multicystic dysplastic kidney

  • Multiple non-communicating cysts
  • Looking at bladder for a ureterocele to exclude a duplex kidney with obstruction as cause of appearances*
A

LOOKING FOR

  1. Oligohydramnios
  2. -Other anomalies

ASSOCIATIONS

  1. -Non-renal anomalies 5%
  2. -Meckel-Gruber
  3. -T13/18

MANAGEMENT

  1. Consider karyotyping
  2. -F/U for size of both kidneys and fluid volume
  3. -Maternal renal USS
54
Q

Autosomal Recessive Polycystic Kidneys

-↑echo large kidneys

A

Looking for

Oligohydramnios

Managment

Tertiary referral

55
Q

Renal agenesis

  • Renal arteries are angle dependent and I would scan in real time.*
  • Bilateral renal agenesis is incompatible with life due to pulmonary hypoplasia and Potter sequence.*
A

LOOK FOR

  • -Bladder size
  • -Oligohydrmanios
  • -Bilateral incompatible with life

ASSOCCIATIONS

  • VACTERL
  • -Single umbilical artery

MANAGEMENT

  1. Tertiary referral
  2. -Maternal renal USS
  3. -3rd trimester USS for AFI
56
Q

TALIPES

-Long axis of foot and leg in same view

A

LOOK FOR

  1. Other anomalies
  2. -Aneuploidy markers
  3. -Myelomenigocele

ASSOCIATIONS

  1. Spina bifida
  2. -Any cause of oligo
  3. -Aneuploidy (esp T18)
  4. -Skeletal dysplasia

MANAGEMENT

  1. Isolated – nil obstetric
  2. -Paeds follow-up for possible bracing
  3. If isolated counsel the parents that this is not normal but is a correctable condition.
57
Q

Rockerbottom foot

-convex sole of foot with hyperextended toes

A

LOOK FOR

  1. Other anomalies
  2. -Aneuploidy markers
  3. -Myelomenigocele

ASSOCIATIONS

  1. Spina bifida
  2. -Any cause of oligo
  3. -Aneuploidy (esp T18)
  4. -Myotonic dystrophy

MANAGEMENT

  1. Rarely seen in isolation, go by other anomalies
58
Q

Thanatophoric dysplasia

-Limb shortening

-Type I – telephone receiver femurs

-Type II – cloverleaf skull

-Platyspondyly – flat vert bodies

A

LOOK FOR

Chest size for pulmonary hypoplasia

59
Q

OSTEOGENESIS IMPERFECTA

  • Fractures
  • Short limbs
  • ↓mineralisation – see brain too well

–skull deformable by transducer pressure

A

ASSOCIATIONS

  • Type II and III normally diagnosed in utero

LOOK FOR

  • Chest size for pulmonary hypoplasia

MANAGEMENT

-Tertiary referral

60
Q

Achondrogenesis

  • Absent vertebral body ossification
  • Small thorax with flared ribs
  • Severe micromelia
A

ASSOCIATIONS

  • Cystic hygroma

MANAGEMENT

  • Tertiary referral
61
Q

Sacrococcygeal Teratoma

  • Exophytic solid/cystic mass
  • May have sig internal component
A

LOOK FOR

  • AV shunting in lesion (↑solid = ↑risk) for risk of hydrops
  • -Local mass effect

ASSOCIATIONS

  1. Hydrops
  2. -Polyhydramnios
  3. -Renal tract obstruction
  4. -Structural defects due to mass effect

REFERRAL

Tertiary referral

3 differentials (8 decks)

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