Consanguinity and birth defects in the jerusalem perinatal study cohort

Area of Science:

• Medical Genetics
• Reproductive Health
• Population Health

Background:

• Parental consanguinity is a known risk factor for congenital anomalies.
• Quantifying this risk in populations with high consanguinity rates is challenging.

Purpose of the Study:

• To investigate the association between parental consanguinity and major birth defects.
• To quantify the risk of birth defects across different levels of consanguinity.

Main Methods:

• A cohort study of 29,815 offspring born between 1964-1976.
• Logistic regression models with generalized estimating equations (GEE) were used to adjust for confounding variables.
• Odds ratios (ORs) and 95% confidence intervals were calculated for major birth defects in relation to consanguinity.

Main Results:

• 10.1% of offspring had consanguineous parents, with an adjusted odds ratio of 1.41 for major birth defects.
• Offspring of uncle-niece marriages had an adjusted OR of 2.36, and first cousins had an OR of 1.59.
• Increased risk was also observed for specific ancestries, including Western Asia (OR 1.27) and Europe (OR 1.13).

Conclusions:

• Consanguinity is significantly associated with an increased risk of major birth defects.
• The study highlights the need for targeted interventions in families with consanguineous unions.
• Socioeconomic factors like poverty and low education are linked to consanguinity, suggesting a need for broader public health strategies.