J Genet Med.  2020 Jun;17(1):16-20. 10.5734/JGM.2020.17.1.16.

Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?

Affiliations
  • 1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea
  • 2Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, Korea
  • 3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Abstract

Purpose
Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been reported as 30% to 40%. However, on the basis of our clinical experience, the risk of Down syndrome of DA may be lower in Korean population. To clarify this issue, we compared the risk of Down syndrome between cases with DA and AVSD.
Materials and Methods
The study population consisted of neonates who were confirmed as DA or AVSD by postnatal diagnosis. Postnatal diagnosis was made by surgery, postnatal echocardiography, or autopsy. Medical record was reviewed retrospectively.
Results
A total of 213 neonates with DA or AVSD were included: 67 cases with DA and 146 cases with AVSD. The risk of Down syndrome was 4.5% (3/67) in DA vs. 29.5% (43/146) in AVSD. When confining analysis to those whose karyotyping were not performed during antenatal period, the risk of Down syndrome were 7.9% (3/38) in DA and 35.4% (35/99) in AVSD.
Conclusion
The risk of Down syndrome in cases with DA was much lower in Korean population than previously reported risk in the literature. The significance of some antenatal sonographic markers for Down syndrome may be different according to ethnicity.

Keyword

Duodenal obstruction; Atrioventricular septal defect; Down syndrome; Aneuploidy
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