Which syndrome presents with decreased AFP levels, low-set ears, hyperechoic bowel, duodenal atresia, and a nuchal fold greater than 6 mm?

Which syndrome presents with decreased AFP levels, low-set ears, hyperechoic bowel, duodenal atresia, and a nuchal fold greater than 6 mm?

• A. Down syndrome
• B. Patau syndrome
• C. Edwards syndrome
• D. Turner syndrome

Answer: (A)

These findings point to trisomy 21 (Down syndrome). A decreased AFP is commonly seen in Down syndrome screening. In ultrasound, duodenal atresia is a classic association with Down syndrome and often presents as a “double bubble.” Hyperechoic bowel can accompany DS, and a nuchal fold thicker than 6 mm is a soft marker for aneuploidy, frequently trisomy 21. Low-set ears can also be part of the facial presentation. Together, this pattern aligns with Down syndrome rather than other trisomies or Turner syndrome, which have different typical findings.

These findings point to trisomy 21 (Down syndrome). A decreased AFP is commonly seen in Down syndrome screening. In ultrasound, duodenal atresia is a classic association with Down syndrome and often presents as a “double bubble.” Hyperechoic bowel can accompany DS, and a nuchal fold thicker than 6 mm is a soft marker for aneuploidy, frequently trisomy 21. Low-set ears can also be part of the facial presentation. Together, this pattern aligns with Down syndrome rather than other trisomies or Turner syndrome, which have different typical findings.