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Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors

M M Mokhtar1, M Abdel-Fattah

  • 1Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.

Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-Majallah Al-Sihhiyah Li-Sharq Al-Mutawassit
|April 15, 2003
PubMed

Insights

Environmental factors during pregnancy, such as maternal antibiotic use and fever, may increase birth anomaly risks in infants with Down syndrome (trisomy 21). Parental consanguinity and diabetes also showed associations with increased risks.

Area of Science:

  • Genetics and Environmental Health
  • Reproductive Medicine
  • Pediatric Anomalies

Background:

  • Down syndrome (trisomy 21) is a genetic condition associated with an increased risk of congenital anomalies.
  • The interplay between genetic predisposition and environmental factors in early pregnancy is crucial for understanding birth defect development.
  • Limited research exists on these interactions in specific populations, such as Alexandria, Egypt.

Purpose of the Study:

  • To investigate the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy.
  • To identify specific environmental and reproductive factors associated with an increased risk of birth anomalies in infants with Down syndrome.
  • To analyze genetic, biological, and environmental risk factors in a case-control study in Alexandria, Egypt.

Main Methods:

  • A case-control study involving 514 infants with confirmed Down syndrome.
  • Data collection spanned from July 1995 to June 2000.
  • Analysis included genetic, biological, environmental, and reproductive factors using multiple logistic regression.

Main Results:

  • Maternal antibiotic use during pregnancy, oral contraceptive use, parental consanguinity, and maternal diabetes were independently associated with a higher risk of congenital heart diseases in Down syndrome infants.
  • Maternal fever during pregnancy was linked to an increased risk of gastrointestinal anomalies in infants with Down syndrome.
  • These findings highlight specific environmental and reproductive risk factors contributing to birth anomalies in this population.

Conclusions:

  • The study suggests that certain environmental and reproductive factors significantly interact with the trisomy 21 genome, increasing the risk of specific birth anomalies.
  • Identifying these factors can inform targeted interventions and prenatal counseling for families at risk of having children with Down syndrome.
  • Further research is warranted to elucidate the precise mechanisms underlying these associations and to explore preventive strategies.

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