Abnormal OB (All Trimesters) Flashcards

1
Q

Spontaneous Abortion (SAB)

A

Usually occurs 1-3 weeks after embryonic or fetal demise (12% of all pregnancies)

Cause frequently cannot be determined but can caused by:

  • Endocrine factors
  • Failure of corpus luteum
  • Maternal mullerian duct anomalies
  • Interruption of embryonic development
  • Specific chromosomal causes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Complete Abortion

A

All products of conception expelled

Sono findings:

  • Empty uterus with normal endo cavity
  • Possibly small amount of fluid in endo cavity
  • Uterus may remain enlarged for up to 2 weeks following SAB
  • Presence of trophoblastic waveforms surrounding endo may remain for up to 3 days post SAB
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Incomplete Abortion

A

Part of products of conception expelled with portion remaining in uterus

Sono findings:

  • Thickened or irregular endo echoes
  • May have fluid in endo cavity
  • May have trophoblastic flow patterns for up to 5 days post event
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Missed Abortion

A

Presence of embryo (>5 mm) without cardiac activity, which may be retained for several weeks before patient experiences symptoms

Clinical symptoms:

  • hCG levels less than expected for dates
  • loss of symptoms of pregnancy
  • decrease in uterine size
  • brownish vaginal discharge without frank bleeding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Threatened Abortion

A

Condition in which the future of the pregnancy may be in jeopardy but pregnancy continues

Patients present with vaginal bleeding or cramping and a closed cervix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Anembryonic Pregnancy (“Blighted Ovum”)

A

Gestation in which embryo does not develop or stops early in development and cannot be visualized

Clinical signs:

  • BhCG may rise but not as rapidly as expected
  • Uterus small for dates
  • Vaginal spotting
  • Closed cervix

Sono findings:

  • Sac may enlarge slightly on serial scans
  • No identifiable embryo in gestational sac 25 mm or larger
  • Fluid filled level indicates blood and is positive evidence of embryonic death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Ectopic Pregnancy

A

Implantation of fertilized ovum at any site except endo

**Most common site is ampulla of the fallopian tube (90%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Adnexal ectopic pregnancies

A

May occur at any site in the fallopian tube or ovary

Ectopics in ampulla are most common but they can also occur in isthmus, interstitial, or fimbrae of tube.

Ovarian ectopics are rare

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Uterine ectopic pregnancies

A

When fertilized ovum implants at any location in uterus other than endo cavity

Can be within cornua, uterine scar, or cervix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Cervical ectopic pregnancies

A

Rare occurrence (1:16,000)

Risk factor is previous uterine curettage

High mortality and morbidity rates due to risk of hemorrhage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Abdominal ectopic pregnancy

A

Rare occurrence in which fertilized ovum implants within peritoneal cavity

May progress further into gestation than other ectopics before it’s found

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Heterotopic pregnancy

A

Coexisting intrauterine and extrauterine pregnancies

More commonly found in fertility patients who have undergone zygote or gamete transfer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Clinical symptoms of ectopic pregnancies

A
  • Amenorrhea
  • Positive pregnancy test
  • Vaginal spotting/ bleeding
  • Adnexal tenderness/ mass
  • Pelvic pain
  • Shoulder pain (referred pain)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Sono findings in ectopic pregnancy

A
  • Live extrauterine embryo
  • Empty uterus (intrauterine sac should be seen with TV scan when beta hCG levels reach 1000-2000 mlu/ml or >6500 mlu/ml TA)
  • Presence of adnexal mass
  • “Sliding sac sign” - gentle pressure with TV probe moves gestational sac
  • Presence of endo decidual reaction or psuedosac
  • Free fluid in cul-de-sac, adnexa, pericolic gutters, or Morrison’s pouch
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Gestational Trophoblastic Disease

A

A spectrum of pathologic conditions resulting from the abnormal proliferation of trophoblastic tissue

Most often occurs during or after the implantation of fertilized ovum but can occur months to years after any type of pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Clinical findings of GTD

A
  • Enlarged uterus
  • Markedly elevated hCG levels
  • Vaginal bleeding/ passage of tissue
  • Hyperemesis gravidarum
  • Absence of fetal heart tones
  • Early onset of pre-eclampsia
  • Hyperthyroidism
  • Theca lutein cysts
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Complete hydatidaform mole

A

Most common form of trophoblastic disease

The chorionic villi are hydropic without identifiable embryonic or fetal tissue

Sono findings:

  • Enlarged uterus filled with echogenic mass
  • Endo cavity is filled with echogenic material that appears homogeneous in 1st trimester, and has cystic areas in the 2nd trimester
  • Hypervascular, low resistance flow pattern with Doppler
  • Ovarian theca lutein cysts
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Partial Mole

A

Partial molar pregnancy

Commonly has one set of maternal chromosomes and two sets of paternal chromosomes, resulting in a triploid karyotype

The identified fetal tissue is anomalous but trophoblastic proliferation is mild

Have both hydropic chorionic villi as well as relatively normal villi.

Fetal and/or embryonic tissue is frequently identified

Sono findings:

  • Deformed gestational sac
  • Growth restricted fetus with triploidy anomalies (snydactyly and hydrocephalus)
  • Enlarged placenta with multiple cystic areas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Persistent Trophoblastic Neoplasia (PTN)

A

Complication of pregnancy that most commonly follows GTD

Two types

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Invasive Mole (Chorioadenoma destruens)

A

Most common form of PTN

Penetrates myometrium or adjacent structures and may cause uterine rupture

Malignant non-metastatic GTD

Sono findings:

  • Presence of focal or diffuse echogenic material within endo cavity
  • May be seen extending into myometrium
  • Irregular, sonolucent areas may be seen surrounding trophoblastic tissue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Choriocarcinoma

A

Very rare (1: 30,000 pregnancies)

1 in 40 molar pregnancies give rise to this

Vascular invasion, hemorrhage, and necrosis of myometrium are common occurrences

Malignant, metastatic GTD that may metastasize to lung, liver, brain, bone, GI tract and skin

Sono findings:

  • Elevated hCG levels in nonpregnant patient
  • Enlarged uterus
  • Irregular complex mass with marked vascularity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Acardiac Twin/ Twin Reversed Arterial Perfusion (TRAP)

A

Rare, diamniotic/ monochorionic

Blood is shunted through a vein to vein and an artery to artery anastamoses from normal twin (pump twin) to acardiac twin

Acardiac Twin:

  • Poorly developed upper body
  • Anencephaly
  • Absent/ rudimentary heart
  • Limbs may be present but truncated

Normal Twin:

  • May develop hydrops or polyhydramnios
  • Increased cardiac burden/ failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Conjoined Twins

A

Monozygotic and occurs when incomplete division of embryonic disk after 13 days gestation

Usually anterior and one body part is attached, there is no membrane and there is limited or no fetal position change

Described by the site of union:

  • Thoracopagus = thorax (most common)
  • Omphalopagus = xiphoid to umbilicus
  • Pyopagus = sacrum
  • Ischiopagus = ischium/ pelvis
  • Craniopagus = head
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Stuck Twin (Poly-Oli Sequence)

A

Monochorionic/ Diamniotic

Usually manifests between 16-26 weeks gestation

One twin normal size with polyhydramnios

One twin small with oligohydramnios and seems to be “stuck” because of lack of space

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Twin to Twin Transfusion Syndrome
Same sex fetuses with shared placenta The arterial blood of donor twin pumps into venous system of recipient twin (arteriovenous anastomoses) Fetal weight discordance of =/> 20% Donor Twin: - IUGR - Oligohydramnios Receiving Twin: - Large for dates - Polyhydramnios - Hydrops - Enlarged viscera - Edema
26
"Vanishing" Twin
Demise of one embryo in late 1st trimester/ early 2nd trimester Embryo and sac usually reabsorbed "Vanishing" sac may mimic implantation bleed or submembranous bleed
27
Intrauterine Growth Restriction (IUGR)
General term for spectrum of fetal physiologic conditions that result in an infant weighing AT OR BELOW 10th percentile for GA Growth restricted infants are born with diminished stores of fat and glycogen and are likely to be hypoglycemic
28
Maternal causes of IUGR
- Poor nurtitional status - Smoking - Multiple gestation - Drug/alcohol abuse - Severe anemia - Diabetes - Chronic renal disease - Rh sensitization - Severe chronic asthma - Under 17 or over 35 years of age - Heart disease - High altitude
29
Placental causes of IUGR
- Placental infarcts & hemangiomas - Small placenta - Single umbilical artery - Abruptio placenta - Placental insufficiency
30
Fetal causes of IUGR
- Genetic or chromosomal defects | - Intrauterine infection
31
Symmetric IUGR (25% of cases)
Growth restriction affecting entire fetus which is a result of 1st trimester fetal insult Sono findings: - All measurements more than 2 weeks below expected GA - Transcerebellar diameter consistent with dates when other parameters are less than expected - Oligohydramnios - Mature placenta earlier than expected - Low BPP score
32
Asymmetric IUGR (75% of cases)
"Brain sparing" Caused by placental insufficiency (most common), chromosomal abnormalities, or infection later in pregnancy Sono findings: - Decrease in AC (2 weeks behind HC) - Normal HC and FL - Oligohydramnios - Mature placenta earlier than expected (grade 3) - Absence or reversal of diastolic flow is critical
33
Macrosomia
Large for dates, fetal weight above 4000 g or above the 90th percentile for GA Causes: - Maternal diabetes - Maternal obesity - Postterm pregnancy Sono findings: - Large AC - Decreased HC/AC ratio - Polyhydramnios - Placentomegaly
34
Oligohydramnios
Abnormally decreased amount of amniotic fluid AFI below 5 cm (Below 5th percentile for GA) Causes: - Genitourinary tract abnormality (fetal) - IUGR (fetal) - Demise (fetal) - Post dates - Poor nutrition (maternal) - Placenta insufficiency (maternal) - PROM (maternal) : pre-eclampsia and eclampsia
35
Polyhydramnios
Abnormally increased amount of amniotic fluid; acute or chronic; AFI above 24 cm (Above 95th percentile for GA) ESP BOOK?? - Mild: 8-12 cm - Moderate: 12-16 cm - Severe: >16 cm ``` Caused by: Maternal -gestational diabetes -Rh incompatibility -Cardiac disease -Preeclampsia -Idiopathic ``` Fetal - CNS anomaly - GI anomalies - Abdominal wall defects - Cardiac defects - Facial clefts/masses - Fetal hydrops - Twin to twin transfusion - Sacrococcygeal teratoma - Skeletal dysplasia
36
Hydrops Fetalis
An excessive accumulation of fluid in fetal tissues and body cavities May result in: - Diffuse interstitial edema - Pleural effusion - Pericardial effusion - Ascites - Anasarca - Placentomegaly - Polyhyrdamnios Two types
37
Immune hydrops
Due to Rh isoimmunization- mother is Rh - and father is Rh + (fetus = Rh+) Maternal antibodies recognize Rh antigens on fetal RBC's as foreign and attack and destroy them which results in fetal anemia (which will in turn result in hydrops)
38
Nonimmune hydrops
Hydrops dues to any cause other than Rh sensitization Causes: - Cardiac anomalies/arrythmias - Infection (TORCH) - Chromosomal abnormalities - Congenital hematologic disorders - Abdominal or pulmonary masses leading to venous obstruction - Twin to Twin transfusion syndrome
39
Sono findings in Hydrops
- Pericardial effusion (earliest sign) - Ascites - Fetal skin thickening (anasarca) - > 5 mm - Placental thickening (> 5 cm AP) - Pleural effusion - Hepatosplenomegaly - Polyhydramnios - Enlarged umbilical vein (> 1 cm)
40
Placenta previa
Placental tissue encroaching upon the cervix and/or crossing internal cervical os which is caused by abnormally low implantation of blastocyst Primary cause of painless vaginal bleeding in 3rd trimester Risk factors: - AMA - Multiparity - Previous c-section - Therapeutic abortion - Closely spaced pregnancies
41
Classification of placenta previa
Complete/ Total Previa: - placenta completely covering internal cervical os - symmetric or asymmetric Partial Previa: -placenta partially covering internal os Marginal Previa: -placenta encroaching on but not crossing os Low Lying Placenta: -placenta in LUS within 2 cm of os
42
Vasa Previa
Fetal vessels crossing the cervical os, passing between cervix and presenting fetal part with the membranes intact Associated with velamentous insertion (Umbilical cord that inserts on the membranes)
43
Abrupto placenta/ placental abruption
Premature placental detachment (either all or part) from myometrium Risk factors: - Maternal HTN - AMA - Multiparity - Maternal vascular disease - Smoking - Maternal diabetes - Trauma - Cocaine use - Uterine leiomyomas - Placenta previa - Short umbilical cord Cinical findings: - Severe pelvic pain - Vaginal bleeding
44
Placental Infarcts
Ischemic necrosis of placental villi resulting from interference with maternal blood flow to intervillous space Occurs more commonly in eclampsia/preeclampsia Sono findings: - Anechoic or hypoechoic areas seen in placenta - May be small or large - Absence of blood flow on color/spectral doppler - No flow on color/spectral doppler
45
Placenta Accreta
Chorionic villi of the placenta are in direct contact with the uterine myometrium but do not invade
46
Placenta Increta
Chorionic villi of the placenta invade the uterine myometrium
47
Placenta Percreta
Chorionic villi of the placenta penetrate/perforate myometrium
48
Subchorionic hemorrhage (hematoma)
Accumulation of blood beneath the chorion Sono findings: - Appearance depends on age of hematoma - Usually decreases in size on follow up exams
49
Chorioangioma
Vascular tumor that arises from the chorionic tissue of the amniotic surface of the placenta Placental hemangioma When tumors are large (> 5cm), is when complications occur. Associated with increased MS-AFP Sono findings: - Enlarged placenta - Circular, solid Hypoechoic mass protruding from chorionic plate - Usually occur at the umbilical insertion site - Polyhydramnios - Fetal hydrops - IUGR
50
Circumvallate placenta vs. circummarginate placenta
Circumvallate: - Small central chorionic ring surrounded by thickened amnion and chorion - May predispose to early separation from uterine wall, antepartum bleeding and threatened AB Circummarginate: -Central attachment of membranes without central ring
51
Accessory Lobes of the placenta
Succenturiate: -Accessory cotyledon with vascular connections to main placenta (connected to body of placenta) Bipartite: -Placenta divided into two lobes but united by primary vessels and membranes Annular: -Ring shaped placenta
52
Trisomy 13 (Patau Syndrome)
Chromosomal abnormality that occurs 1:6000 births. Extra chromosome 13 Poor prognosis ***Holoprosencephaly*** (Most common marker) Sono findings: - Cleft lip/palate - IUGR - Polydactyly - Cardiac defects - Omphalocele - Renal anomalies - Absent/ small eyes - Microcephaly - Agenesis of corpus callosum
53
Trisomy 18 (Edwards Syndrome)
Chromosomal abnormality that is the second most common. Extra chromosome 18 Poor prognosis (Average lifespan of 5 days) ***Clenched fists and rocker bottom feet*** (most common markers) Sono findings: - Heart defects - Choriod plexus cysts - Micrognathia - Renal anomalies - Cleft lip and palate - Omphalocele - Enlargement of cisterna magna - Single umbilical artery - IUGR - Polyhydramnios
54
Trisomy 21 (Down Syndrome)
Most common chromosomal abnormality occurring 1:710 live births Extra chromosome 21 Sono findings: - Thickened nuchal fold (> 6 mm) - Heart defects - Duodenal atresia - Hyperechoic cardiac focus - Macroglossia - Micrognathia - Hyperechoic bowel - Sandal toe deformity - Clinodactyly - Low-set ears - Short stature - Small or absent nasal bones
55
Turner's Syndrome
Occurs in females only Chromosomal syndrome attributed to complete or partial absence of an X chromosome Occurs in 1:5000 births Not very good prognosis-high risk for in utero demise and those who do survive have ovarian dysgenesis and short stature Sono findings: - Cystic hygroma - Heart defects - Non-immune hydrops - Renal anomalies (horse shoe kidney, renal agenesis) - General lymph edema
56
Triploidy
Complete extra set of chromosomes -Often results in one ova being fertilized by two sperm Vast majority spontaneously abort prior to 20 weeks Sono findings: - Heart defects - Hypertelorism - Micrognathia - Microphthalmia - Ventriculomegaly - Oligohydramnios
57
Amniotic Band Syndrome
The rupture of the amnion, which leads to entrapment/entanglement of the fetal parts by the "sticky" chorion. Depends on the age of injury as to how severe the defects will be. -Early entrapment may lead to severe craniofacial defects and internal malformations. -Late entrapment leads to amputations or limb restrictions. Sono findings: - Echogenic amniotic bands attached to fetus - Various fetal anomalies (at least 2) - Fetal postural deformities - Various secondary abnormalities
58
Beckwith-Wiedemann Syndrome
Normal karyotype Associated with Macrosomia, omphalocele and macroglossia
59
Eagle-Barret Syndrome (Prune Belly Syndrome)
Weakened abdominal wall musculature in conjunction with massively dilated bladder, ureters and kidneys Decompression of hydronephrosis postnatally causes retraction and wrinkling of the skin, giving the appearance of a prune Associated with dilated fetal bladder, small thorax, and imperforate anus
60
Meckel-Gruber Syndrome
Autosomal recessive condition Lethal Sono findings: - Encephalocele - IPKD - Oligohydramnios - Polydactyly
61
VACTERL Associations
Group of anomalies that may occur together ``` V ertebral defects A nal atresia C ardiac anomalies T racheoesophageal fistula R enal anomalies L imb dysplasia ```
62
Limb-Body Wall Complex
Rare, complex malformation caused by the failure of closure of the ventral body wall Has to have 2 or more of the following: - Limb defects - Lateral wall defects (esp. left) - Encephalocele - Exencephaly - Facial defects - Scoliosis
63
Treacher-Collins Syndrome
Autosomal dominant disorder that affects the ears, mandible, and palate Frequently associated with congenital heart defects - Small mandible - Micrognathia - Autosomal trisomy - Holoprosencephaly
64
Ellis-Van Creveld Syndrome
Occurs in 200,000 births and more frequent in Amish community Autosomal recessive Also known as chondrodermal dysplasia Sono findings: - Limb shortening (mild to moderate) - Polydactly - Heart defects (50%) - May have narrow thorax
65
Pentalogy of Cantrell
Congential disorder associated with two of the following major defects: - Cardiac defect - Abdominal wall defect - Diaphragmatic hernia - Defect of diaphragmatic pericardium - Ectopia cordis
66
Gastroschisis
Relatively small defect involving all 3 layers of the abdominal wall which allows for protrusion of the intestines into the amniotic cavity Usually to the right of the umbilicus and is not covered by a membrane Not associated with other anomalies
67
Omphalocele
Congenital anterior abdominal wall defect in which abdominal organs (Liver, bowel, stomach) are atypically located within the umbilical cord and protrude outside the wall Develops when there is a midline defect of the abdominal muscles, fascia, and skin Covered in a membrane consisting on amnion and peritoneum Associated with: - Cardiac defects - Genitourinary defects - GI abnormalities - Chromosomal abnormalities
68
Esophageal Atresia
Discontinuity of esophagus and is associated with tracheoesophageal fistula 90% of time Sono findings: - Small/absent fetal stomach - Failure to demonstrate stomach on serial exams - Polyhydramnios
69
Duodenal Atresia
Blockage of the duodenum Associated with Trisomy 21, cardiac, urinary, and GI anomalies Sono findings: - "Double bubble" sign - dilated stomach and proximal duodenum - Polyhydramnios
70
Hyperechoic Bowel
Increased echogenicity of fetal bowel that is similar to or greater than that of adjacent bone Associated with: - Cystic fibrosis - Infection - IUGR - Chromosomal abnormalities
71
Meconium ileus and peritonitis
Ileus: - Impaction of thick meconium in distal ileum - Frequently associated with cystic fibrosis ``` Peritonitis: -Bowel perforation caused by bowel atresia or meconium ileus Sono findings: -Calificiations in fetal abdomen -Fetal ascites -Polyhydramnios -Presence of meconium pseudocyst ```
72
Ventricular Septal Defect (VSD)
Caused by incomplete closure of the interventricular foramen and failure of the membranous part of the IV septum Sono findings: - Demonstration of an opening between the ventricles on 4 chamber view - Bidirectional flow demonstrated with color Doppler - Large defects are easier to diagnose
73
Atrial Septal defects (ASD)
Any abnormal opening between the atria Diagnosis is difficult because of the normal patent foramen ovale Sono findings: - Relies on demonstration of echo dropout at level of the atrial septum - Prenatal diagnosis unlikely due to patent foramen ovale
74
Transposition of the Great Vessels
Origins of great vessels are transposed - Aorta arises from right ventricle - Pulmonary trunk arises from left ventricle Normal 4 chamber heart view Sono findings: - Correct left-right orientation is a MUST - Images of outflow tracts demonstrate anomalous origin - Depends on demonstration of parallel orientation of outflow tracts
75
Ectopia Cordis
All or part of the heat is located outside of the chest cavity Sono diagnosis is made by visualization of soft tissue mass outside of the thorax exhibiting cardiac activity
76
Tetralogy of Fallot
Most common form of cyanotic heart disease Consists of four anatomical abnormalities: - VSD - Overriding aorta - Pulmonic stenosis - Right ventricular hypertrophy
77
Ebstein's Anomaly
Malformation of the tricuspid valve with low insertion Results in grossly enlarged right atrium
78
Arrhythmia
Irregular rhythm Can be due to: - Premature ventricular contractions (PVCs) - Premature atrial contractions (PACs) - Maternal caffeine intake, smoking and alcohol use
79
Tachycardia
Heart rate greater than 180 bpm
80
Bradycardia
Prolonged heart rate =/<100 bpm Associated with complete heart block Below 80 bpm, may be associated with fetal asphyxia Persistent bradycardia may warrant early delivery
81
Pleural effusion
May be isolated or in association with other abnormalities (esp. hydrops) Sono findings: - Anechoic fluid seen in fetal chest - Fluid contours to surrounding lung and diaphragm - Lung tissue appears echogenic
82
Congenital Diaphragmatic Hernia (CDH)
Results from the defective fusion/ formation of the diaphragm, allowing stomach, spleen, liver and/or colon to herniate into chest Bochdalek: - More common (85% of cases) - Left sided hernia Morgagni CDH is usually associated with other anomalies such as cardiac and brain Sono findings: - Identification of fluid filled bowel and especially stomach in chest at level of 4 chamber hear view - Heart displaced from left chest toward right - Associated with polyhydramnios
83
Congenital Cystic Adenomatoid Malformation (CCAM)
Unilateral condition characterized by the replacement of normal lung parenchyma by abnormal tissue (often includes visible cysts) Accounts for 25% of lung malformations 3 Types based on size of the cysts: - Type I: one or more large cysts (=/>2 cm) - Type II: multiple small cysts (<1-2 cm) - Type III: multiple small cysts, too small to be resolved by US beam so lung appears hyperechoic Sono findings: - Demonstration of non-pulsatile echogenic mass in fetal lung (solid & cystic components) - Lateral displacement of heart - Possible signs of hydrops (Most common w/ type III) - Associated polyhydramnios
84
Anencephaly
Most common neural tube defect Congenital absence of the cerebral hemispheres and cranial vault. It occurs with failure of neural tube to close by 24 days gestation Characterized as open defect covered by angiomatous stroma, rather than skin or bone The brain stem and bony base of skull that form from other structures are present Sono findings: - Absence of cranial vault- - Bulging eyes "frog-like" face - Rudimentary brain tissue herniating from defect - Macroglossia - Polyhydramnios - Increase in fetal activity
85
Acrania
Developmental abnormality in which cranium is partially or completely absent with the development of abnormal brain tissue Lethal anomaly with elevated AFP levels Sono findings: - Skull is absent - Brain is present - Lack of hyperechoic bony calvaria
86
Encephalocele (Cephalocele)
Herniation of brain and meninges or meninges and CSF (meningocele) through a cranial defect Are associated with Meckel-Gruber Syndrome Prognosis depends on amount of brain involved an associated findings Encephaloceles are: - usually midline - Most commonly occipital - may be frontal or lateral Sono findings: - Purely cystic extracranial mass (meningocele) - Solid mass contiguous with cranium (cephalocele) - Often associated w/ hydrocephalus,and polyhydramnios
87
Spina bifida
General term for lack of closure of the vetebral column Prognosis depends upon level and severity of lesion Usually occurs in lumbosacral region Fetuses may have: - Meningocele - Meningomyelocele: herniation of meninges and neural elements (spinal cord) thru spinal defect Sono findings: Transverse plane: -Splaying of posterior elements into "U" or "V" configuration -When sac is intact, cystic structure may be seen extending from back (small, simple cystic structure, cyst with septations and/or solid matter) Longitudinal Plane: -Splaying of parallel ossification centers -Soft tissue defect or discontinuity of skin and muscle of posterior back
88
Arnold Chiari Malformation Type II
Displacement of cerebellar vermis, fourth ventricle, medulla oblongata through foramen of magna into the upper cervical canal Associated findings of spina bifida are secondary to this Sono findings: - Compressed shape to the cerebellum - "banana sign" - Obliteration of cisterna magna - Flattening of temporal/frontal bones due to decreased intracranial pressure - "Lemon sign" - Ventriculomegaly
89
Ventriculomegaly / Hydrocephalus
Dilation of the ventricular system secondary to an increase in the volume of CSF Sono findings: - Presence of excess fluid in lateral ventricles - "Dangling" choroid plexus - Echogenic rim of solid brain tissue - Occipital horn dilates first - Mild enlargement = 10-15 mm - Severe enlargement = >15 mm Associated findings: - Polyhydramnios - Hepatomegaly and fetal ascites - Meningomyelocele - Dandy-Walker - Encephalocele - Intracranial tumor
90
Holoprosencephaly
Group of disorders resulting from absent/ incomplete division of the forebrain (prosencephalon) into cerebral hemispheres and lateral ventricles Can be sporadic, due to chromosomal abnormalities (Trisomy 13 esp), or maternal infection Facial anomalies are common with this: - cyclopia with proboscis - hypoterlorism - facial clefts
91
Types of Holoprosencephaly
Alobar: - Most sever form - Monoventricle - Fused thalami - Absence of falx cerebri Semi-Lobar: - Partial separation of ventricles & hemispheres with occipital lobe present - Incompletely fused thalami Lobar: - Least severe form - Normal separation of thalami, hemispheres and ventricles - Absent cavum septum pellucidum and olfactory tracts
92
Hydranencephaly
Destructive disorder due to bilateral internal carotid artery occlusion/ malformation Characterized by near total lack of cerebral hemispheres with intact and normally developed meninges and skull Sono findings: - Large fluid-filled cranium - Absent cerebral tissue/ cortical mantle - Falx cerebri is present - Normal midbrain and basal ganglia - Polyhydramnios - No associated anomalies
93
Dandy-Walker Malformation
Complete or partial absence of cerebellar vermis and posterior fossa cystic dilation communicating with 4th ventricle Associated with: - autosomal recessive disorders - Maternal infection - Diabetes - Exposure to alcohol and Coumadin Sono findings: - Complete/ partial agenesis of cerebellar vermis with flattened cerebellar hemispheres - Large midline cystic structure in posterior fossa - Associated with ventriculomegaly and polyhydramnios
94
Agenesis of Corpus Callosum
Failure of callosal fibers to form normal connection May be partial or complete and is frequently associated with other anomalies Sono findings: - Absence of CSP - Elevated dilated 3rd ventricle - Widely separated frontal horns of lateral ventricles with enlarged occiptal horn - "Teardrop" shaped ventricles, displaced upward and outward
95
Choroid Plexus Cysts
Small cysts within the choroid plexus are common Can be unilateral/bilateral, multiple or sinlge, large or small May be considered a normal anatomic variant
96
Microcephaly
Defined as decreased head size (more than 3 SD below the mean) Symptom of several etiologic disturbances Cause include: - Craniosynostosis - Chromosomal abnormalities - Exposure to teratogens
97
Caudal Regression Syndrome
Structural abnormality of the caudal end of the neural tube and includes a spectrum of skeletal anomalies of the lower spine and lower limbs More common in patients with diabetes Associated anomalies: - GI and GU tracts - CNS - Heart
98
Hypotelorism
Orbits placed closer together than expected
99
Hypertelorism
Orbits placed wider apart than expected
100
Cyclopia
Midline fusion of the orbits
101
Facial cleft (Cleft lip/ palate)
Most common congenital facial abnormality - 25% cleft lip only - 50% cleft lip and palate - 25% cleft palate only Sono findings: - Anechoic cleft extending from nostril to lip - May see tongue moving in cleft - May have association with polyhydramnios - Small stomach
102
Macroglossia
Persistent protrusion of the tongue Polyhydramnios Associated with Beckwith-Wiedemann and Down Syndrome
103
Micrognathia
Abnormally small jaw Small receeding chin and lower lip Associated with Trisomy 18 Polyhydramnios
104
Frontal bossing
Prominent forehead due to absent nasal bridge Associated with skeletal dysplasias and syndromes
105
Epignathus
Rare pharyngeal teratoma which protrudes from fetal mouth Sono appearance: - Large complex cystic and solid mass - Hyperextends neck
106
Nuchal fold/ Nuchal thickening
Increased soft tissue thickness at posterior aspect of the neck Slightly higher risk of chromosomal syndromes (esp. Trisomy 21) Sono findings: - Oblique axial cross-section showing CSP, 3rd ventricle, cerebellum and CM - Measurement of > 6 mm considered abnormal (measured between 15-21 weeks) - Fetal head must not be hyperextended
107
Cystic Hygroma
Benign developmental anomaly of the lymphatic system Associated with chromosomal abnormalities, fetal hydrops, and fetal heart failure Sono findings: - Thin walled multiseptated mass at posterior aspect of neck - May see nuchal ligament extending posteriorly (outward) - May mimic cervical teratoma, encephalocele, cervical meningomyelocele
108
Renal Agenesis
Congenital absence of one or both kidneys Unilateral: -Very common -Causes no symptoms and is usually undetected until adulthood -Associated with SUA Bilateral: -Associated with Potter's syndrome Sono findings: - Severe oligohydramnios between 16-28 weeks stongly suggests renal anomalies - Absence of kidneys with "lying down" adrenal glands in renal fossa mimicking kidneys (absence of renal arteries)
109
Multicystic Dysplastic Kidney (MCDK) /Potter's Syndrome Type II
Obstruction of kidney during its development leads to formation of cysts which replace renal parenchyma Minimal urine formation and cannot be detected early in pregnancy because cysts are not large enough to visualize Cysts may be large (up to 6 cm) and may be unilateral, bilateral or segmental Consists of: - Bilateral renal agensis - Pulmonary hypoplasia - Characteristic facies - Limb deformities - Oligohydramnios
110
Autosomal Recessive Polycystic Kidney Disease (ARPKD)/ Potter's Type I
Inherited disorder characterized by symmetric renal enlargement by multiple cysts These cysts cause enlargement of total renal size while compressing functioning renal tissue Sono findings: - Enlarged echogenic kidneys due to multiple interfaces of cysts - Increased kidney: AC ratio - Oligohydramnios - Small bladder - Kidneys may appear normal in early pregnancy (14-16 weeks)
111
Ureteropelvic Junction Obstruction (UPJ)
***Most common*** Characterized by congenital obstruction of urine flow from renal pelvis into ureter Anatomic causes: - Fibrous adhesions - Bands - Kinks - Ureteral valves - Anomalous vessels Sono findings: - Hydronephrosis - Dilated renal pelvis - Thinning of renal cortex in chronic states - No hydroureter - Normal amniotic fluid level
112
Posterior Urethral Valve Obstruction (PUV)
Congenital folds of the urethra act as valves and obstruct urinary flow Can cause severe damage to kidneys, ureters, and bladder ***Occurs only in males*** Sono findings: - Massive bilateral hydronephrosis and hydroureter - Dilated bladder with "keyhole sign" - dilated bladder and prostatic urethra - Moderate to profound oligohyrdamnios - Bladder wall thickening - Male genitalia identified
113
Considerations for male genitalia
- Undescended testes (normally descended into scrotum by 26-34 weeks) - Hydroceles (small are common, large warrant postnatal follow-up) Abnormal formation of the penis
114
Considerations for female genitalia
-Hydrometrocolpos -Ovarian cysts: usually benign functional cysts that result from maternal hormone stimulation (resolve spontaneously after birth)
115
Rhizomelia
Shortening of the proximal segment of an extremity | -Humerus or femur
116
Mesomelia
Shortening of middle segment of an extremity | -Radius/ulna, tibia/fibula
117
Micromelia
Shortened extremities
118
Thanatophoric Dysplasia
Most common lethal dysplasia Characterized by extreme micromelia (esp. rhizomelia), bowed long bones, narrow thorax with normal trunk, relatively large head Sono findings: - Cloverleaf skull (Kleeblattschadel) - Severely shortened limbs - Hypoplastic thorax - Platyspondyly - Mild hypomineralization - Polyhydramnios
119
Achondrogenesis
Rare lethal form of short-limbed dysplaisa ``` Two types: Type I: -Autosomal recessive -More severe Type II: -Autosomal dominant and less severe form ``` Sono findings: - Lack of vetebral ossification - Large head, possible with decreased cranial ossification - Severely shortened limbs/ micromelia - Small chest - Polyhydramnios - Associated cleft lip/ palate, micrognathia
120
Osteogenesis Imperfecta Type II
Disorder of production, secretion or function of collagen Abnormally fragile bones, which have decreased mineralization, fracture in utero, resulting in severe micromelia and irregularity of the bones Autosomal recessive Sono findings: - Presence of fractures of "thick" bones due to callus formation - Severe micromelia - Multiple rib fractures - Severe hypomineralization of the skull - Small, bell-shaped thorax
121
Campomelic Dysplasia
Lethal skeletal dysplasia characterized by short bent/ bowed bones Most commonly tibia and femurs are affected Sono findings: - "bent" long bones - Narrow thorax, and hypoplastic or absent scapulae - Associated CNS and renal anomalies
122
Short-Rib Polydactyly Sydrome
Rare lethal dysplasia characterized by polydactyly and extremely small thorax Death results from respiratory insufficiency
123
Polydactyly
More than normal number of digits of the hand or foot
124
Clinodactyly
Permanent curvature of the 5th digit Associated with Trisomy 21
125
Syndactyly
Fusion of digits, either soft tissue or bony fusion
126
Clubfoot Deformity (Talipes)
Abnormal relationship between the tarsal bones and calcaneous 55% of cases are bilateral Sono findings: - Forefoot is orientated in same plane as lower leg - Persistent abnormal inversion of foot at an angle perpendicular to lower leg
127
Rocker Bottom Foot
Bottom of foot appears "rocker bottom" or convexes outward Can be associated with trisomy 21
128
Sirenomelia (Mermaid Syndrome)
Lower extremity fusion and abnormal or absent foot structures Sono findings: - Oligohydramnios - Single femur or two femurs seen side by side - Abnormal/absent foot structures - Associated with bilateral renal ageneis and skeletal abnormalities
129
Achondroplasia
Abnormal cartilage deposits at long bone epiphysis Most common form Sono findings: - Macrocrania - Micromelia - Frontal bossing - Hypoplastic thorax - Ventriculomegaly
130
Single Umbilical Artery (SUA)
Most commonly encountered umbilical cord abnormality May be caused by primary agenesis of umbilical artery or atrophy of normally formed umbilical artery Associated abnormalities include: - GU anomalies - Trisomies 18 and 13 - Cardiovascular anomalies - CNS anomalies - Omphalocele
131
Nuchal Cord
Wrapping of the umbilical cord around the fetal neck Two or more complete loops of cord around the neck Color Doppler is useful to demonstrate this
132
Cord Prolapse
Umbilical cord protruding through the cervix or adjacent to presenting fetal part This is an emergent situation
133
Long cord
> 80 cm
134
Short cord
<35 cm
135
Marginal/ Battledore Insertion of the cord
Attachment of the cord at the periphery of the placenta Cord enters directly into the edge of the placental substance
136
Velamentous Insertion of the cord
Attachment of the cord to the membranes rather than to the placental mass Cord travels beneath the chorion for some distance before attaching to edge of the placenta May be associated with IUGR, preterm birth and congenital anomalies
137
Chorionic Villus Sampling (CVS)
- Typically performed between 9-12 weeks - Can be performed either transcervically or transabdominally - Trophoblastic cells obtained with CVS are cultured and karyotyped - In cases of chromosomal abnormalities, the diagnosis is made earlier that with amniocentesis
138
Quad Screen
``` Four components: 1) Alpha feto protein (AFP): glycoprotein produced primarily in fetal liver which crosses placenta into maternal serum -can easily be detected in routine blood test (MSAFP) Elevated MSAFP (>/= 2.0-2.5 MoM) can be associated with: -Incorrect dates -Multiple gestation -Open neural tube defects -Abdominal wall defects -Placental chorioangioma -Maternal fetal hemorrhage -Maternal hepatocellular carcinoma Decreased MSAFP associated with: -Incorrect dates -Chromosome abnormalities -Fetal demise 2) Human chorionic gonadotropin (hCG) -Elevated 2 times median value for Down Syndrome 3)Unconjugated estriol (uE3) -Tends to be lower than normal in Trisomy 21 4) Inhibin-A -Elevated with Down Syndrome ```
139
Amniocentesis
Assist in locating optimal collection site away from: - Fetus - Umbilical cord - Central placenta - Uterine vessels Typically performed around 16 weeks
140
Cordocentesis
Fetal blood is aspirated through umbilical cord
141
Gestational Diabetes
Hormonal and metabolic changes associated with pregnancy can result in a condition referred to as glucose intolerance of pregnancy
142
Effects of Diabetes on pregnancy
- Caudal regression syndrome - Neural tube defects - Cardiovascular malformations - Genitourinary anomalies - SUA - GI anomalies - Skeletal anomalies
143
Fetal Complications from Diabetic Mother
- Respiratory distress syndrome - Hypoglycemia - IUGR - Macrosomia - Hypocalcemia - Oligo/ Polyhydramnios (depending on type of fetal anomaly present) - Thickened placenta
144
Maternal Complications in Diabetic Pregnancy
- Polyhydramnios - Pre-eclampsia - Renal dysfunction - Hypoglycemia - PVD - Postpartum hemorrhage
145
Pre-eclampsia
- Hypertension - Generalized edema - Proteinuria - Rapid weight gain secondary to edema
146
Eclampsia
- HTN - Edema - Proteinuria - Convulsions - Coma - Death
147
TORCH
``` Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus -Herpes (genital) ```
148
Incompetent/Insufficient Cervix
Premature dilation and effacement of the uterine cervix It is the inability of the cervix to prevent the premature expulsion of uterine contents Sono findings: - Shortened cervix ( < 2.5-3 cm) prior to 34 weeks - Dilation of cervix > 2 cm in 2nd trimester - "Bulging" membranes/ "hourglass sign" are poor prognosis
149
Preterm Labor
Defined as the onset of labor before 37 weeks Causes: - Previous uterine surgery - Uterine anomalies - Maternal stress - Heavy cigarette smoking - Multiple gestations - Polyhydramnios - Antepartum bleeding - Systemic infections - May be idiopathic
150
Premature Rupture of Membranes (PROM)
Spontaneous rupture of membranes prior to labor Clinical sign= large passage of watery fluid from the vagina
151
Uterine Myoma
Enlarges during pregnancy due to estrogen stimulation May obstruct vaginal delivery Clinical signs: - Uterus large for dates - Pain or focal tenderness - Palpable mass - Spontaneous abortion