Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

• Published in: International journal of neonatal screening Vol. 10; no. 2; p. 28
• Main Authors: Tang, Chengfang, Li, Lixin, Chen, Ting, Li, Yulin, Zhu, Bo, Zhang, Yinhong, Yin, Yifan, Liu, Xiulian, Huang, Cidan, Miao, Jingkun, Zhu, Baosheng, Wang, Xiaohua, Zou, Hui, Han, Lianshu, Feng, Jizhen, Huang, Yonglan
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 29.03.2024; MDPI
• Subjects: Amino acids; Childrens health; Disease; Fatty acids; Genes; Genomics; Health aspects; Hospitals; inborn errors of metabolism; Infants (Newborn); Mass spectrometry; Maternal & child health; Medical screening; Metabolism; Metabolism, Inborn errors of; Metabolites; newborn screening; next-generation sequencing; Oxidation; Scientific imaging; Statistical analysis; tandem mass spectrometry; Massachusetts; China; United States > US; inborn errors of metabolism; tandem mass spectrometry; next-generation sequencing; newborn screening

The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study of 29,601 newborns from eight screening cente...