Newborn screening for external congenital anomalies at three public hospitals in Karachi, Pakistan.

INTRODUCTION

Reliable 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.

METHODS

A 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.

RESULTS

Of 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 (p<0.001).

CONCLUSION

This 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.