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- Title
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
- 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
- Abstract
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 centers with NBS via NGS combined with MS/MS. A custom-designed panel targeting the coding region of the 142 genes of 128 inborn errors of metabolism (IEMs) was applied as a first-tier screening test, and expanded NBS using MS/MS was executed simultaneously. In total, 52 genes associated with the 38 IEMs screened by MS/MS were analyzed. The NBS performance of these two methods was analyzed and compared respectively. A total of 23 IEMs were diagnosed via NGS combined with MS/MS. The incidence of IEMs was approximately 1 in 1287. Within separate statistical analyses, the positive predictive value (PPV) for MS/MS was 5.29%, and the sensitivity was 91.3%. However, for genetic screening alone, the PPV for NGS was 70.83%, with 73.91% sensitivity. The three most common IEMs were methylmalonic academia (MMA), primary carnitine deficiency (PCD) and phenylketonuria (PKU). The five genes with the most common carrier frequencies were PAH (1:42), PRODH (1:51), MMACHC (1:52), SLC25A13 (1:55) and SLC22A5 (1:63). Our study showed that NBS combined with NGS and MS/MS improves the performance of screening methods, optimizes the process, and provides accurate diagnoses.
- Subjects
CHINA; NEWBORN screening; PREDICTIVE tests; DATA analysis; RESEARCH funding; INBORN errors of metabolism; CARNITINE; PHENYLKETONURIA; GENETIC carriers; GENES; MASS spectrometry; RESEARCH; STATISTICS; DEFICIENCY diseases; AMINO acid metabolism disorders; HEALTH outcome assessment; COMPARATIVE studies; DATA analysis software; FATTY acids; SEQUENCE analysis; SENSITIVITY &; specificity (Statistics); GENETIC testing
- Publication
International Journal of Neonatal Screening (IJNS), 2024, Vol 10, Issue 2, p28
- ISSN
2409-515X
- Publication type
Article
- DOI
10.3390/ijns10020028