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Maternal risk factors and major associated defects in infants with Down syndrome

C P Torfs1, R E Christianson

  • 1California Birth Defects Monitoring Program, Emeryville 94608-1811, USA.

Epidemiology (Cambridge, Mass.)
|May 7, 1999
PubMed

Insights

Maternal smoking is linked to heart defects in infants with Down syndrome. Coffee consumption and fever during pregnancy may also increase risks for specific congenital anomalies in these infants.

Area of Science:

  • Genetics and Developmental Biology
  • Environmental Health
  • Pediatric Cardiology

Background:

  • Down syndrome (DS) is frequently associated with congenital anomalies, impacting infant morbidity and mortality.
  • The interplay between the trisomic genome and environmental factors in DS-associated defects requires further investigation.

Purpose of the Study:

  • To examine the hypothesis that environmental factors interact with the trisomic genome to elevate the risk of specific congenital defects in infants with Down syndrome.
  • To identify prenatal environmental risk factors for congenital anomalies in a multiracial cohort of infants with DS.

Main Methods:

  • A case-control study involving 687 infants with Down syndrome.
  • Evaluation of maternal exposures during early pregnancy, including cigarette smoking, alcohol consumption, coffee intake, and fever.
  • Statistical analysis using odds ratios (OR) and 95% confidence intervals (CI), with adjustments for potential confounders like maternal race, age, and socioeconomic status.

Main Results:

  • Maternal smoking showed a significant association with grouped cardiac defects (OR=2.0).
  • Specific cardiac defects linked to smoking included atrioventricular canal (OR=2.3), tetralogy of Fallot (OR=4.6), and atrial septal defects without ventricular septal defect (OR=2.2).
  • Maternal coffee consumption (OR=6.02) and fever (OR=3.4) were associated with Hirschsprung disease, though case numbers were small. Alcohol use was not associated with any defects.

Conclusions:

  • Environmental factors during early pregnancy appear to modify the occurrence of congenital anomalies in embryos with Down syndrome.
  • Findings highlight the potential role of modifiable maternal exposures in the development of DS-associated birth defects.
  • Further research is warranted to elucidate the mechanisms underlying these environmental influences on congenital anomaly risk in Down syndrome.

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