Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

ABSTRACT:

Background

Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we sought to assess the feasibility of further improving the screening using next-generation sequencing technology.

Methods

We designed a newborn genetic sequencing (NBGS) panel based on multiplex PCR and next generation sequencing to analyze 134 genes of 74 inborn disorders, that were validated in 287 samples with previously known mutations. A retrospective cohort of 4986 newborns was analyzed and compared with the biochemical results to evaluate the performance of this panel.

Results

The accuracy of the pane

SUBMITTER: Huang X 

PROVIDER: S-EPMC8862216 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature