Burden of congenital anomalies in Faisalabad, Pakistan: Consanguinity, ethnic disparities and public health implications.

Objective: Congenital anomalies (CA) have emerged as a leading cause of infant morbidity and mortality worldwide, particularly in low-resource countries such as Pakistan. This study investigated the distribution, types, and biodemographic attributes of CA in the Faisalabad Division of Punjab, Pakistan. Methodology: A clinico-epidemiological study was conducted from September 2023 to April 2024. Individuals and families with CA were recruited through multiple approaches, including visits to Allied hospital, special education centers, Sundus Foundation and random door-to-door surveys. The anomalies were classified with the help of clinicians using the Results: A total of 867 independent individuals/families with CA were included. The CA were classified into 12 major and 107 minor categories. Among these major categories, neurological disorders were the most prevalent (40%), followed by sensorineural/ear defects (13%), neuromuscular disorders (9%), limb defects (7%), blood disorders (6%), orofacial defects (4%), musculoskeletal disorders (4%), congenital heart defects (4%), eye/visual impairments (4%), urogenital defects (3%), metabolic defects (3%) and others (2%). The parental consanguinity was observed in 62% cases. There was remarkably high representation of sporadic cases (66%) compared to familial (34%), respectively. Marked differentials were evident in the distribution of CA across the demographic, socio-economic and ethnic attributes of individuals. Conclusions: Majority of the anomalies observed in this cohort are of severe nature suggesting the need for targeted public health interventions. There is a dire need for awareness programs regarding maternal exposures and parental consanguinity and prenatal screening and genetic counselling services.