ArticleBMJ paediatrics open2026
Newborn screening for external congenital anomalies at three public hospitals in Karachi, Pakistan.
Article in BMJ paediatrics open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionReliable prevalence data on congenital anomalies are lacking in low- and middle-income countries (LMICs), including Pakistan. This study aimed to determine the prevalence of external congenital anomalies through systematic newborn screening (NBS) in public sector hospitals in Karachi, Pakistan.
methodsA cross-sectional NBS programme was implemented from July 2023 to June 2024. Health workers (HWs) conducted head-to-toe newborn examinations, documented anomalies and provided counselling and referral guidance. Rates of intrauterine deaths and pre- and post-discharge neonatal mortalities were documented.
resultsOf the 25 414 births in the study period, 18 728 (73.7%) were screened. Major external anomalies were identified in 334 births (1.8%) and minor anomalies in 3384 (18.1%). The most common major anomalies included clubfoot, hypospadias, cleft lip/palate and spina bifida. Of all neonates screened, follow-up at the end of the neonatal period was completed for 70.6%, with 23.0% deaths recorded for those with major anomalies as compared to 1.8% with minor anomalies and 1.3% with no identified anomalies. Preterm birth, male sex and study site were significantly associated with the presence of anomalies (
conclusionThis is the largest systematically conducted NBS for external congenital anomalies in Pakistan, highlighting a substantial burden of congenital anomalies and associated neonatal mortality. Screening by trained non-physician HWs is feasible and scalable. However, screening must be paired with effective referral and care pathways to reduce mortality and morbidity.
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