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

Xinwen HuangDingwen WuLin ZhuWenjun WangRulai YangJianbin YangQunyan HeBingquan ZhuYing YouRui XiaoZheng-Yan Zhao

Published in: Orphanet journal of rare diseases (2022)

Analysis based on next generation sequencing could effectively identify neonates affected with more congenital disorders. Combined with C-NBS, this approach may improve the early and accurate identification of neonates with inborn disorders. Our study lays the foundation for prospective studies and for implementing NGS-based analysis in NBS.

Keyphrases

low birth weight
copy number
gene expression
high resolution
genome wide
preterm infants
quality improvement
mass spectrometry
circulating tumor
preterm birth
data analysis
case control