Abstract
Background: To ascertain rates of congenital malformation and genetic diseases in a local where parental consanguinity is high.
Methods: We reviewed the medical charts of 7,200 children over a 6-year period. The study is a retrospective compilation of the chart reviews in a semi-urban Muslim Arab town which were previously presented.
Results: The results of our study revealed a high rate of congenital anomalies in our study group (7.33%), this compares to other studies in highly consanguineous communities where the frequency of anomalies in children and young adults was found to be 6%.
In our study group, the most important genetic disorders and congenital anomalies (in the group of children whom we studied in this survey) were cardiovascular anomalies, hemoglobinopathies, neural tube defects, monilethrix, and chromosomal disorders.
Conclusions: Our survey, focused on one particular town, is presented as a model of epidemiological ascertainment for other communities as well, and includes recommendations, at a community level, to decrease rates of genetic disorders and malformations. The survey is important considering the numerous worldwide communities and populations where, due to social and religious customs, consanguinity continues to present challenges to efforts by the health system to reduce neonatal morbidity and mortality.
Keywords: Community Genetics, Congenital Anomalies, Genetic Diseases, Consanguineous marriages