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. 2024 Oct;116(10):e2406.
doi: 10.1002/bdr2.2406.

Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21

Allison M Peluso  1 , Mohsen A A Farghaly  1 , Hany Aly  1 , Mohamed A Mohamed  1
Affiliations

Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21

Allison M Peluso et al. Birth Defects Res. 2024 Oct.

Abstract

Background: Infants with Trisomy 21 are known to have increased incidence congenital anomalies including congenital heart diseases (CHD) and congenital gastrointestinal anomalies. It is not known if there are patterns of coexistence.

Objectives: To examine the coexistence of CHD with various gastrointestinal anomalies in infants with Trisomy 21.

Methods: We assessed a sample of infants with Trisomy 21 from the National Inpatient Sample (NIS), and its KID subversion, produced by the Healthcare Cost and Utilization Project for 2003-2015. We identified CHD using international classification of diseases version 9 (ICD9) and categorized them into four groups: left sided lesions, right sided lesions, conotruncal lesions, and shunt lesions. We identified small intestinal atresia and Hirschsprung disease with ICD9 codes.

Results: The sample included 81,561 newborn infants diagnosed with Trisomy 21; 45% of them had CHD; 4.7% had small intestinal atresia, and 1.6% had Hirschsprung disease. All subcategories of CHD were associated with increased incidence of both small intestinal atresia and Hirschsprung disease, p value < 0.05 compared to infants with Trisomy 21 who did not have CHD.

Conclusions: Among infants with Trisomy 21, the presence of CHD increased the odds of a concomitant congenital GI anomaly.

Keywords: Trisomy 21; birth defects; congenital anomalies; neonates; syndromes.

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