Congenital Anomalies and Consanguinity in a Rural Community of Punjab, Pakistan: A Cross-Sectional Study

Consanguineous marriage is common in Pakistan and has been linked to an elevated risk of congenital anomalies (CAs), yet community-based evidence from rural settings remains limited. This study examined the prevalence and patterns of congenital anomalies and assessed their association with consanguinity in a rural population of Punjab, Pakistan. A cross-sectional survey was conducted among 300 married couples in Union Council Kamrial, District Attock. Information on socio-demographic characteristics, reproductive history, and congenital anomalies was collected using a structured questionnaire and, where possible, verified through clinical records. Data were analyzed using descriptive and bivariate statistical methods. Consanguineous unions were reported by 77.7% (n = 233) of couples, with first-cousin marriages comprising 63.9% of these cases. Overall, 18.0% (n = 54) of couples reported at least one child with a congenital anomaly. Although the prevalence was higher among consanguineous couples (18.9%) than non-consanguineous couples (14.9%), this difference was not statistically significant (p = 0.457). A prior history of congenital anomalies showed a strong association with recurrence, reported by 92.3% of affected couples (p < 0.0001). Higher prevalence was also observed among older couples and those with lower levels of partner education. These findings suggest that, within this rural context, factors such as familial history, parental age, and socio-demographic conditions may be more influential than consanguinity alone in shaping the risk of congenital anomalies. The results underscore the need for targeted genetic counseling, improved health literacy, and strengthened maternal and child health services in underserved communities.