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.
基金：
Scientific Research Project Plan of the Shanghai Municipal Health Commission [202140346]; Science and Technology Projects in Guangzhou [202201020618]; Application Technology Research and Development Project of the Inner Mongolia Autonomous Region [2020GG0119]
第一作者机构：[1]Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangdong Prov Clin Res Ctr Child Hlth, Dept Guangzhou Newborn Screening Ctr, Guangzhou 510180, Peoples R China
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推荐引用方式(GB/T 7714)：
Tang Chengfang,Li Lixin,Chen Ting,et al.Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry[J].INTERNATIONAL JOURNAL OF NEONATAL SCREENING.2024,10(2):doi:10.3390/ijns10020028.
APA：
Tang, Chengfang,Li, Lixin,Chen, Ting,Li, Yulin,Zhu, Bo...&Huang, Yonglan.(2024).Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.INTERNATIONAL JOURNAL OF NEONATAL SCREENING,10,(2)
MLA：
Tang, Chengfang,et al."Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry".INTERNATIONAL JOURNAL OF NEONATAL SCREENING 10..2(2024)
