Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.

ABSTRACT:

Objective

To explore the use of genomic screening for congenital adrenal hyperplasia (CAH) based on long-read sequencing (LRS), aiming to provide an effective method for LRS-based screening (LRSBCS).

Methods

All newborns underwent traditional CAH screening via the collection of dried blood spots. We conducted a retrospective clinical study of 73 cases, including 12 confirmed cases of CAH, 18 cases with false-positive biochemical screening results, and 43 healthy newborns as control. Full-length CAH-related genes, including CYP21A2, CYP11B1, CYP17A1, HSD3B2, and STAR were amplified and sequenced on a Sequel II platform (Pacific Biosciences).

Results

Among the 235,999 newborns, 12 were confirmed to have CAH, based on biochemical and/or genetic testing. The positive-pred

SUBMITTER: Yang Y 

PROVIDER: S-EPMC12639871 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature