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CAH Newborn Screening in India: Challenges and Opportunities

Sciprofile linkAashima Dabas, Sciprofile linkMeenakshi Bothra, Sciprofile linkSeema Kapoor
Published: 27 August 2020
 by  MDPI
International Journal of Neonatal Screening , Volume 6; doi:10.3390/ijns6030070

Abstract: Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed. Newborn screening is a cost-effective tool to detect affected babies early after birth to optimize their treatment and follow-up. Newborn screening however is in its nascent stage in India where it is not yet introduced universally for all babies. The following review briefly highlights the challenges (e.g., lack of universal screening, healthcare resources) and opportunities (e.g., reduction in morbidity and early correct gender assignment in females) associated with newborn screening for CAH in a large Indian birth cohort.
Keywords: Newborn Screening / congenital adrenal hyperplasia / CAH

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