Background: Congenital Heart Defects (CHDs) are the most common structural defects of newborns (5-15/1000 live births). Southern Israel population comprises of Jewish population (80%) and Bedouin Arabs (20%), who have a high rate of consanguinity (50-60%) and an abortions rate 2.5 times lower than the Jewish population.
Aims: To assess the CHD epidemiology and the association with maternal characteristics.
Methods: A population-based study of all births during 1991-2011 in Soroka University Medical Center, a tertiary hospital admitting all births in the area (n=247,289) with 6,078 newborns having CHD. To account for the same woman deliveries a general estimating equation models adjusted for gender and ethnicity were used.
Results: The incidence of CHDs was 24.5/1,000 live births, increasing over 20 years from 12.32 to 27.64, with a peak incidence in 2005 of 35.1. The majority (58.6%) was observed in Bedouin Arabs. Maternal risk factors included maternal CHD (aOR 2.81,p<0.001), CHD in other children (aOR 16.27,p<0.001), maternal age>35 (aOR 1.2,p<0.001), in-vitro fertilization (IVF) (aOR 1.4,p=0.009), recurrent miscarriages (aOR 1.18, p<0.001), diabetes mellitus (aOR 1.76,p<0.001) and anemia (aOR 1.16,p<0.001). Defects most associated with CHD in siblings were hypoplastic left ventricle(22.1%), TOF(20.4%) and TGA(19.6%).
Conclusions: Maternal factors associated with CHDs include miscarriages, IVF, diabetes-mellitus and anemia, which could support iron supplementation as part of CHD prevention. A strong association was also found with maternal and sibling CHD demonstrating a clear familial connection. Genetic studies in this population could help elucidate this relationship and the genetic and molecular basis of these defects.