Utility, benefits, and risks of newborn genetic screening carrier reports for families.

ABSTRACT:

Background

Newborn genetic screening (NBGS) based on next-generation sequencing offers enhanced disease detection and better detection rates than traditional newborn screening. However, challenges remain, especially around reporting the NBGS carrier results. Therefore, we aimed to investigate the NBGS carrier parents' views on NBGS and NBGS reports in China.

Methods

We distributed a survey querying demographic information, knowledge and perceptions of NBGS, the impact of NBGS on a total of 2930 parents, and their decision-making to parents of newborns reported as carriers in NBGS in Nanjing, China in 2022.

Results

The average age of the survey respondents was 30.7 years (standard deviation = 3.6). Most (68.38%) felt informed about NBGS, especially women, the highly ed

SUBMITTER: Wang X 

PROVIDER: S-EPMC10884785 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature