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Fetal Aneuploidy Screening Mastery

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Structural Abnormalities

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A detailed evaluation of structural markers that may indicate chromosomal conditions. This module covers the identification of both major and minor anomalies, teaching students how to document and report findings to senior staff and patients effectively.

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Complete this lesson and pass the quiz to earn 10 Karma Points and move one step closer to your Fetal Aneuploidy Screening Mastery Certification.

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1. What percentage of Down syndrome (Trisomy 21) fetuses show serious congenital defects on second-trimester ultrasound?
10% 25% 50% 75%
2. Which cardiac defects are most commonly associated with Down syndrome?
Tetralogy of Fallot & pulmonary atresia VSD & AV canal defects Hypoplastic left heart & coarctation Tricuspid atresia & TGA
3. What percentage of fetuses with Trisomy 18 or Trisomy 13have associated cardiac abnormalities?
30–40% 50–60% 70–80% Over 90%
4. What is the classic sonographic sign of duodenal atresia, and when does it typically become visible?
Triple-bubble sign before 18 weeks Double-bubble sign after 20–24 weeks Single cystic mass after 15 weeks Echogenic bowel with dilation after 28 weeks
5. Approximately what proportion of prenatally identified duodenal atresia cases carry Trisomy 21?
1 in 10 1 in 4 1 in 3 1 in 2
6. In second-trimester pregnancies with cystic hygroma, what percentage are aneuploid — and which disorder predominates?
40% aneuploid; Trisomy 21 most common 75% aneuploid; Turner syndrome (45,XO) = 80% 50% aneuploid; Trisomy 18 most common 60% aneuploid; Trisomy 13 = 50%
7. What is the maximum percentage of non-immune hydrops cases attributable to aneuploidy?
Up to 5% Up to 16% Up to 30% Up to 50%
8. Which omphalocele type carries a HIGHER risk of aneuploidy?
Omphalocele with liver herniated into sac Omphalocele containing only intestine (liver remains intracorporeal) Both types carry equal risk Aneuploidy risk is unrelated to sac contents
9. What percentage of fetuses with alobar or semi-lobar holoprosencephaly have aneuploidy?
10–20% 20–40% 50–60% 70–80%
10. Which cleft type carries the HIGHEST aneuploidy risk?
Unilateral cleft lip only (0%) Unilateral cleft lip + palate (32%) Bilateral cleft lip + palate (59%) Median cleft lip + palate (82%)