Next-generation sequencing based newborn screening and comparative analysis with MS/MS.

ABSTRACT:

Background

Newborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing (NGS) has the potential to provide increased data output, efficiencies, and applications. This study aimed to analyze the types and distribution of pathogenic gene mutations in newborns in Huzhou, Zhejiang province, China and explore the applicability of NGS and MS/MS in NBS.

Methods

Blood spot samples from 1263 newborns were collected. NGS was employed to screen for pathogenic variants in 542 disease-causing genes, and detected variants were validated using Sanger sequencing. Simultaneously, 26 inherited metabolic diseases (IMD) were screened using MS/MS. Positive or suspicious samples identified through MS/MS were cross-referen

SUBMITTER: Shen G 

PROVIDER: S-EPMC10985934 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature