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Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009

Adrian M Michalski1, Sandra D Richardson, Marilyn L Browne

  • 1New York State Department of Health, Congenital Malformations Registry, Albany, New York.

American Journal of Medical Genetics. Part A
|February 26, 2015
PubMed

Insights

This study analyzed sex ratios in infants with birth defects, finding significant differences for specific congenital anomalies. These sex differences in birth defects may offer insights into their causes and classification.

Area of Science:

  • Pediatric Epidemiology
  • Congenital Anomalies Research
  • Sex Differences in Health

Background:

  • Population-based studies on sex differences in infant birth defects are limited.
  • Understanding these differences is crucial for etiological insights and classification.
  • Previous research has not comprehensively analyzed sex ratios across diverse congenital anomalies and demographic groups.

Purpose of the Study:

  • To estimate sex ratios for isolated and multiple congenital anomalies.
  • To examine sex ratio variations by race/ethnicity for specific birth defects.
  • To identify patterns in sex differences that may inform etiology and classification.

Main Methods:

  • Analysis of 25,952 clinically reviewed case infants from the National Birth Defects Prevention Study (1997-2009).
  • Calculation of male-female sex ratios and 95% confidence intervals.
  • Stratification of analyses by defect type (cardiac vs. non-cardiac, isolated vs. multiple) and race/ethnicity.

Main Results:

  • Significant male preponderance observed in isolated non-cardiac defects like craniosynostosis (2.12) and cleft lip (1.78-2.01).
  • Notable female preponderance in defects such as choanal atresia (0.45) and cloacal exstrophy (0.46).
  • Highest sex ratios for isolated cardiac defects included aortic stenosis (2.88) and coarctation of the aorta (2.51); lowest for multiple VSDs (0.52).
  • Observed variations in sex differences across different race/ethnicity groups for certain defects.

Conclusions:

  • Sex differences in specific congenital anomalies are evident and vary by defect type and presence of multiple anomalies.
  • Observed patterns in sex ratios suggest potential etiological factors.
  • Findings support the utility of considering sex and race/ethnicity in birth defect classification and research.

Keywords:
birth defectsrace/ethnicitysex ratio

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