A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

ABSTRACT:

Background

Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new opportunities to expand current newborn screening methodologies.

Methods

We designed a a newborn genetic screening (NBGS) panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS. With this panel, a large-scale, multicenter, prospective multidisease analysis was conducted on dried blood spot (DBS) profiles from 21,442 neonates nationwide.

Results

We presented the positive detection rate and carrier frequency of diseases and related vari

SUBMITTER: Yang RL 

PROVIDER: S-EPMC10258179 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature