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<p>Congenital adrenal hyperplasia (CAH) is a serious autosomal recessive disorder that can lead to virilization in female fetuses, salt-wasting crises, and long-term health complications. Prenatal diagnosis using CYP21A2 gene testing and fetal sex determination enables early initiation of dexamethasone therapy to prevent irreversible genital ambiguity in affected female fetuses. However, in India, the PCPNDT Act prohibits prenatal sex determination for autosomal disorders like CAH, resulting in unnecessary steroid exposure to the majority of unaffected or male fetuses. While developed countries permit sex determination under ethical oversight for such conditions, India continues to face ethical and clinical dilemmas. We highlight the urgent need for policy reform to allow medically justified fetal sex determination in genetically at-risk pregnancies to ensure safer, more targeted treatment and prevent avoidable fetomaternal harm.</p>

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Challenges in Prenatal Diagnosis and Therapy of Congenital Adrenal Hyperplasia in India: Balancing the Act

  • 期刊论文

  • 发表日期：

    2025年11月26日

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  • Satish Choudhury,
  • Avantika Gupta,
  • Chetan Khare

摘要

Congenital adrenal hyperplasia (CAH) is a serious autosomal recessive disorder that can lead to virilization in female fetuses, salt-wasting crises, and long-term health complications. Prenatal diagnosis using CYP21A2 gene testing and fetal sex determination enables early initiation of dexamethasone therapy to prevent irreversible genital ambiguity in affected female fetuses. However, in India, the PCPNDT Act prohibits prenatal sex determination for autosomal disorders like CAH, resulting in unnecessary steroid exposure to the majority of unaffected or male fetuses. While developed countries permit sex determination under ethical oversight for such conditions, India continues to face ethical and clinical dilemmas. We highlight the urgent need for policy reform to allow medically justified fetal sex determination in genetically at-risk pregnancies to ensure safer, more targeted treatment and prevent avoidable fetomaternal harm.