Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.

ABSTRACT:

Importance

Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population.

Objective

To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test.

Design, setting, and participants

This cohort study included newborns who were prospectively recruited from 8 screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.

Exposures

All participants were concurrently screened using dried blood spots. The screen consisted of biochemical screening test

SUBMITTER: Chen T 

PROVIDER: S-EPMC10474521 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature