Newborn genetic screening is highly effective for high-risk infants: A single-centre study in China

BackgroundNewborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on high-risk infants.Method...

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Bibliographic Details
Published in:Journal of global health 2023-10, Vol.13, p.04128-04128, Article 04128
Main Authors: Wang, Xin, Sun, Yun, Guan, Xian-Wei, Wang, Yan-Yun, Hong, Dong-Yang, Zhang, Zhi-Lei, Li, Ya-Hong, Yang, Pei-Ying, Jiang, Tao, Xu, Zheng-Feng
Format: Article
Language:English
Subjects:
Agreements
Birth weight
Genes
Genetic screening
Genomes
Global health
Health care
Hemorrhage
Infants
Infections
Mass spectrometry
Medical screening
Newborn babies
Roles
Scientific imaging
Software
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Summary:BackgroundNewborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on high-risk infants.MethodsWe screened 10 334 healthy newborns from the general maternity unit and 886 high-risk infants from the neonatal ward using both traditional newborn screening (tNBS) and NBGS, and collected clinical data from electronic medical records.ResultsWe found that high-risk infants had a higher proportion of eutocia (P 
ISSN:2047-2978
2047-2986
DOI:10.7189/jogh.13.04128