Pattern and Prevalence of Congenital Malformation and Genetic Disorders among Offspring of Consanguineous Parents in Quetta

Abstract

This cross-sectional study was carried out to examine the pattern and prevalence of congenital malformation/ genetic disorders among the offspring of consanguineous marriages in Quetta, Pakistan. A survey was conducted among 105 married couples from different areas of Quetta city. 89 out of 105 consanguineous couples were related as first cousins, followed by second cousin (n=16) and third cousin (n=6) couples. Consanguineous marriages were common among women who were illiterate (43.8%) and unemployed (87.6%). Highest number of child mortality (61.9%) and abnormalities (32.1%) were observed among the children of first cousin marriages. The most common congenital malformation /genetic disorders were mental retardation (24.13%), followed by diabetes (10.3%), deafness (6.8%) and thalassemia (6.8%). Among all the inter-related marriages, first cousin marriages are at highest risk to have babies with congenital anomalies.