Fetal Anomlies Flashcards
1
Q
Hydrops
A
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
2
Q
overriding aorta
A
DDX: VSD, Tet, Pulmonary atresia with VSD Common arterial trunk Double outlet right ventricle
3
Q
% of tet with underlying chromosomal abnormality
A
30%
10-15% diGeorge syndrome
4
Q
Digeorge syndrome
A
Autosomal Dominate - most De Novo conotruncal cardiac defect hypoplastic thymus neonatal hypocalcemia immune deficiency Developmental delay
5
Q
DDX for FGR
A
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)
6
Q
Most likely cause for fetal growth restriction prior to 20 weeks.
A
anuploidy
7
Q
Omphalocele without liver- risk for genetic anomaly
A
60% T13/18/Turners/triploidy
8
Q
CVS gestational ages
A
10-13 weeks
9
Q
Beckwith-Wiedeman
A
omphalocele
macrosomia
macroglossia
abnormal impriting chromosome 11
10
Q
Fetal Parvo
A
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
11
Q
most common anomalies associated with a thickened NT
A
cardiac
skeletal
diaphragm
12
Q
False positive cell free fetal DNA
A
placental mosiacism demised twin maternal mosaicism maternal malignancy statistical chance
13
Q
What is the most sensitive/specific marker for t21
A
thickened nuchal fold (40-50%)
sensitivity (40-50%)
Specificity (99%)
14
Q
Most common anomalies with CPAM
A
10-20 % CHD CNS Bone intestinal atresia renal agenesis esophageal atresia
15
Q
CVR
A
> 1.6 is high risk
<0.91 low risk for fetal/neonatal complications
