Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?

  • Lee, Seung Mi (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Jun, Jong Kwan (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Kim, Hyun-Young (Department of Pediatric Surgery, Seoul National University College of Medicine) ;
  • Shin, Seung Han (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Park, Jeong Woo (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Kim, Min Kyoung (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Park, Chan-Wook (Department of Obstetrics and Gynecology, Seoul National University College of Medicine) ;
  • Park, Joong Shin (Department of Obstetrics and Gynecology, Seoul National University College of Medicine)
  • Received : 2020.05.19
  • Accepted : 2020.06.17
  • Published : 2020.06.30
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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.

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