Fetal Anomlies Flashcards
Hydrops
DDX: Immune Nonimmune Genetic - Inherited anemia - Inborn errors of metabolism - aneuploidy ( Turners 40-70%, T21 (20-30%), T13/18) Fetomaternal Hemorrhage Fetal Infections Fetal Tachyarrhythmias Structural abnormalities - Cardiac -Thoracic - Placental -Gastrointestinal
overriding aorta
DDX: VSD, Tet, Pulmonary atresia with VSD Common arterial trunk Double outlet right ventricle
% of tet with underlying chromosomal abnormality
30%
10-15% diGeorge syndrome
Digeorge syndrome
Autosomal Dominate - most De Novo conotruncal cardiac defect hypoplastic thymus neonatal hypocalcemia immune deficiency Developmental delay
DDX for FGR
Constitutional Uteroplacental - Maternal disease (HTN/DM/Lupus/APAS/Cardiac/Tobacco use) - Placental (abruption ,mosaicism, infarct, velamentous cord) Multiple Gestation Drug Exposure Incorrect Dating Fetal (infection/genetic)
Most likely cause for fetal growth restriction prior to 20 weeks.
anuploidy
Omphalocele without liver- risk for genetic anomaly
60% T13/18/Turners/triploidy
CVS gestational ages
10-13 weeks
Beckwith-Wiedeman
omphalocele
macrosomia
macroglossia
abnormal impriting chromosome 11
Fetal Parvo
amnio dx risk for fetal infection lower if >20 weeks anemia/thrombocytopenia/hydrops no long-term sequalae 30-50% are immune hydrops is rare weekly exams for 8 weeks post-infection
most common anomalies associated with a thickened NT
cardiac
skeletal
diaphragm
False positive cell free fetal DNA
placental mosiacism demised twin maternal mosaicism maternal malignancy statistical chance
What is the most sensitive/specific marker for t21
thickened nuchal fold (40-50%)
sensitivity (40-50%)
Specificity (99%)
Most common anomalies with CPAM
10-20 % CHD CNS Bone intestinal atresia renal agenesis esophageal atresia
CVR
> 1.6 is high risk
<0.91 low risk for fetal/neonatal complications
Risk for anuploidy/structural anomaly with cystic hygroma
- most common structural anomalies
50%
1/3 of feuses will have a structural
- cardiac/ skeletal/ CDH
- normal genetics/anatomy - most have normal outcomes
DDX of cyst in the posterior fossa
Dandy walker malformation
megacisterna magna
blake’s pouch cyst
vermian hypoplasia
Dandy walker malformation
posterior fossa enlarged
cystic dilation of the 4th ventricle
cerebellar hemispheres are splayed
cerebellar vermis hypoplastic or absent
- associated anomalies high
- CNS 60%
- non CNS 40%
chromosomal 15-20%
Encelphaloceles
usually sporatic
meckel gruber syndrome (generally autosomal recessive)
walker-warburg syndrome (recessive muscular dystrophy)
ddx of ventriculomegaly
inital tests on amnio
idiopathy chromosomal abnormality Fetal Infections ( toxo, CMV) adqeductal stenosis agenesis of CC dandy walker NTD
tests: microarray AFP/acetylchoinesterase PCR for CMV/toxo Zika
Primary CMV vs. Reactivated CMV risk for fetal infection
40% vs 1%
Ultrasound findings for CMV
periventricular calcifications ventriculomegaly hydrops/precursors Hepatosplenomegaly Hepacic calcifications AFI abnormalities FGR/microcephaly
CMV prognosis
10% symptomatic - 5% mortality - 50% motor/cognitive issues -50% hearing loss -20% visual impairment 50% normal outcome
90% asymptomatic at birth
25% with hearing loss
MOM’s surgery benefits/risks
OB risk- PTB, PPROM, Chorion-amnion separation, Oligo, abruption, future pregnancy concerns
Maternal: pulmonary edema, transfusion
Benefits: decreased death by 1 year decreased shunt decreased hindbrain herniation improved ambulation
Risk for toxo
Risks per trimester
undercooked meat soil contaminated produce raw shellfish unpasteurized goat milk contaminated cat litter
1st trimester- 15
2nd trimester- 44
3rd trimester 71
neonatal toxo
CP microcephaly blindness hydrocephalus seizure death
fetal toxo on ultrasound
intracranial calcifications
ventriculomegaly
echogenic bowel
intrahepatic calcifications
Hepatosplenomegaly FGR Ascites Pericardial/peural effusions Hydrops Demise
Treatment for toxo
<18 wks spiramycin
>18 week pyrimethamine/sulfadiazine
likelihood of associated extracardiac anomaly
20-40%
