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Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

S B Freeman1, C P Torfs, P A Romitti

  • 1Department of Human Genetics, Emory University, Atlanta, GA 30033, USA.

Clinical Genetics
|November 22, 2008
PubMed

Insights

Congenital gastrointestinal defects affect 6.7% of infants with Down syndrome (DS). This study found no significant associations between these defects and infant sex, race, maternal age, or heart defects.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Down syndrome (DS), or trisomy 21, is frequently associated with congenital anomalies.
  • Congenital gastrointestinal (GI) defects are a known complication in infants with DS.

Purpose of the Study:

  • To determine the prevalence of congenital GI defects in a large, population-based cohort of infants with DS.
  • To investigate potential associations between these GI defects and various infant and maternal factors.

Main Methods:

  • A 15-year population-based study (1989-2004) collected data on 1892 infants with trisomy 21.
  • Statistical analyses including chi-squared tests and logistic regression were used to examine relationships.

Main Results:

  • Congenital GI defects were identified in 6.7% of infants with DS.
  • Specific defects included duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), anal stenosis/atresia (1.0%), esophageal atresia/tracheoesophageal fistula (0.4%), and pyloric stenosis (0.3%).
  • No statistically significant associations were found between GI defects and infant sex, race, maternal age, or presence of congenital heart defect.

Conclusions:

  • Congenital GI defects are common in infants with Down syndrome.
  • Further research may be needed to explore potential, albeit not statistically significant, trends observed in this cohort.

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