Jornal de doenças genéticas e relatórios genéticos

Parental Consanguinity and Birth Defects in Lebanon: The National Collaborative Perinatal Neonatal Network (NCPNN)

Farra C, El Rafei R, Mumtaz G, Charafeddine L, Tlays F and Yunis K

Objective: To determine the prevalence of birth defects (BD) and its correlation with parental consanguinity in a representative population of Lebanon.

Methods: Secondary data analysis of the National Collaborative Perinatal Neonatal Network (NCPNN), reporting on neonates between September 2003 and December 2007.

Results: Among 50,396 live births, 1,637 were diagnosed with one or more birth defects for an overall prevalence of 32.5‰. The most prevalent defects were cardiovascular, urogenital and musculoskeletal with 15.1‰, 6.3‰ and 5.7‰, respectively. Approximately 40% of affected newborns had multiple defects involving one or more organs. Syndromes were suspected in 128 neonates of whom 77.3% were diagnosed with chromosomal aneuploidies (mostly Down syndrome). Consanguinity was reported among 15.73% of parents, and the odds of BD were found to be significantly increased among first-cousins consanguineous couples (OR 1.6; 95% CI: 1.2-1.7). 

Conclusion: Findings of this study estimated for the first time the overall prevalence of BD in Lebanon, with congenital heart anomalies being most common. They further established a significant association between parental consanguinity and the odds of BD in offsprings.