Incidence and Spectrum of Congenital Anomalies in Pediatric Populations of Southern Punjab, Pakistan
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Abstract
Background: Congenital anomalies (CAs) remain a significant concern for pediatric health worldwide, affecting millions of newborns. In Southern Punjab, Pakistan, a region characterized by its distinct socio-cultural dynamics, including a high prevalence of consanguineous marriages, the impact of these anomalies presents a unique public health challenge. This study aims to shed light on the incidence and spectrum of CAs within this context, exploring the genetic and environmental factors contributing to their prevalence.
Objective: The primary objective of this study was to estimate the incidence and types of congenital anomalies among the pediatric population of Southern Punjab, with a particular focus on the relationship between consanguineous marriages and the prevalence of CAs.
Methods: A cross-sectional study design was utilized, encompassing 406 pregnant women aged 20-42 from Southern Punjab, screened via ultrasound and genetic testing. The study emphasized the categorization of CAs across five main systems: digestive, central nervous, cardiovascular, ear-face-neck, and musculoskeletal. The inclusion of women with a history of cousin marriages provided a comparative analysis to understand the genetic impact on CA incidence.
Results: Out of 406 newborns, a total of 16 (3.94%) were diagnosed with congenital anomalies. The distribution of CAs was as follows: digestive system (5 cases, 1.23%), central nervous system (3 cases, 0.74%), cardiovascular system (5 cases, 1.23%), anomalies of ear, face, and neck (3 cases, 0.74%), and musculoskeletal system (3 cases, 0.74%). Notably, the prevalence of CAs was higher in children born from cousin marriages (12 cases, 2.95%) compared to those from non-consanguineous unions (4 cases, 0.99%), with a statistically significant p-value of 0.05.
Conclusion: The study underscores the heightened risk of congenital anomalies associated with consanguineous marriages in Southern Punjab, Pakistan. These findings advocate for enhanced genetic counseling and prenatal screening programs in regions with similar socio-cultural practices to mitigate the risks and impact of CAs.
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