Congenital anomalies in Okara District of Pakistan: Epidemiology, spectrum and ethno-demographic inequalities.

Objectives: To investigate the epidemiology, spectrum and ethno-demographic attributes of congenital anomalies (CA) in Okara district of Pakistan. Methods: In this cross-sectional study, individuals affected by CA were identified through door-to-door visits, surveys of public places, and district hospitals during the period 2015 to 2022 in Okara district of Punjab, Pakistan. Descriptive statistics were employed, and CA were classified using the International Classification of Diseases (ICD-10) and Online Mendelian Inheritance in Man (OMIM) databases. Results: A total of 709 individuals/families with certain types of CA were ascertained. These anomalies were categorized into eight major and 95 minor entities. Limb defects predominated among the major groups (21%), followed by neurological disorders (16%), neuromuscular disorders (15%), sensorineural/ear defects (15%), ectodermal defects (9%), musculoskeletal defects (7%), and others (4%). Parental consanguinity was observed in 67% of the cases and 55% anomalies had familial occurrence. There were statistically significant differences among the major categories with respect to rate of parental consanguinity and familial/sporadic nature. Marked disparities were also observed in the distribution of CA with respect to ethnic groups, economic quartiles and age categories of index cases. Conclusions: Neurological and neuromuscular defects which accounted for 31% of the sample, were of severe nature and cause of disability, whereas limb defects were mainly of minor nature. There is wide variation in the prevalence of CA across the ethno-demographic variables. A multifaceted strategy that explicitly includes marginalized and minority populations in health services and addresses environmental, genetic, and maternal health factors is necessary to prevent CA.