October 2, 2025Open Access

Prenatal Diagnosis of Congenital Adrenal Hyperplasia due to Deficiency of Steroid 21-Hydroxylase Enzyme - Experience from a Tertiary Care Center in India

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Observational analysis identifies affected fetuses in at-risk families, highlighting the importance of carrier screening.

Of 139 prenatal samples analyzed, 23.7% of fetuses were affected by congenital adrenal hyperplasia.
The study utilized various genetic testing methods, achieving 100% accurate reporting of cases diagnosed.
Linkage analysis was effective in families lacking prior molecular testing, ensuring proper diagnosis.
Comprehensive carrier screening allowed prenatal diagnosis to be offered even without an affected child in family.

Dubey et al. (2025) studied this question.

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