4 - Gastrointestinal anomalies in infants with trisomy 21

Poster Number: 4
Publication Number: 4.207

Marwa M. Elgendy, Cleveland Clinic Children's Hospital, cleveland, OH, United States; Hany Aly, Cleveland Clinic Children's Hospital, Cleveland, OH, United States; Mohamed A. Mohamed, Cleveland Clinic Children's, Cleveland, OH, United States

Background: Duodenal atresia (DA) is a common finding in infants with Trisomy 21 (T21). Hirschsprung’s disease (HD) has also been associated with T21. It is not known if there is increased predilection for concomitant small intestinal atresia including DA, jejunal atresia (JA) or ilial atresia (IA) with HD in infants with T21.

Objective: To examine the concomitant association of small intestinal atresia and HD in infants with T21.

Design/Methods: We examined the national inpatient sample (NIS) datasets and its pediatrics subversion (KID) for the years 2003-2018. The diagnoses of DA, JA, IA, HD and T21 were identified in the datasets using respective International Classification of Diseases codes version 9 and version 10. The study included all neonates < 28 days of life. We calculated the prevalence of each condition in the overall sample and in infants with T21 and calculated the adjusted odds ratios (aOR) of having each of the conditions with T21 using logistic regression models. We calculated the aOR of having a concomitant small intestinal atresia with HD in infants with T21 compared to the overall sample controlling for infant’s sex and race and maternal anemia, diabetes and hypertension status. 

Results: Weighted sample included 66,213,034 infants in which 48.6% were females, 43.1% were Caucasians, 96.7% were singleton and 32.7% delivered via Cesarean delivery. There were 34,689 (0.052%) infants with small intestinal atresia, 15,287 (0.023%) infants with HD and 508 (0.001%) infants with concomitant diagnosis of both small intestinal atresia and HD.  In the overall population, there were 99,861 (0.15%) infants with the diagnosis of T21. Small intestinal atresia occurred in 4.73% among infants with T21 compared to 0.05% in the sample, aOR 100 (CI:97-103), p< 0.001). HD occurred in 1.7%% in infants with T21 compared to 0.02% in the overall sample, aOR 81 (CI:77-86, p< 0.001). Concomitant small intestinal atresia and HD occurred in 0.09% in infants with T21 compared to 0.001% in the sample, aOR 122 (CI:96-154, p< 0.001). Significant findings in the regression model include a strong association between male sex and African American race and HD.Conclusion(s): Small intestinal atresia and HD are both strongly associated with T21. Concomitant occurrence of small intestinal atresia and HD is also strongly associated with T21.