机构：[1]Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research & Center for Clinical Innovation and Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.[2]BGI Genomics, BGI-Shenzhen, Shenzhen, China.[3]Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.[4]College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.[5]Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.[6]Department of Genetics, Shijiazhuang Maternal and Child Health Hospital, Shijiazhuang, Hebei, China.[7]Department of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, The First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.门急诊片医学遗传科云南省第一人民医院[8]Department of Pediatrics, Chongqing Health Center for Women and Children & Women and Children's Hospital of Chongqing Medical University, Chongqing, China.[9]Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, Inner Mongolia, China.[10]Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital Affiliated to Shandong First Medical University, Jinan, China.[11]Neonatal Disease Screening Center, Hainan Women and Children's Medical Center, Haikou, Hainan, China.
Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population.To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test.This cohort study included newborns who were prospectively recruited from 8 screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.All participants were concurrently screened using dried blood spots. The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel.The primary outcomes were the number of patients detected by gene panel sequencing but undetected by the biochemical test.This study prospectively recruited 29 601 newborns (15 357 [51.2%] male). The mean (SD) gestational age was 39.0 (1.5) weeks, and the mean (SD) birth weight was 3273 (457) g. The gene panel sequencing screened 813 infants (2.7%; 95% CI, 2.6%-2.9%) as positive. By the date of follow-up, 402 infants (1.4%; 95% CI, 1.2%-1.5%) had been diagnosed, indicating the positive predictive value was 50.4% (95% CI, 50.0%-53.9%). The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into 1 out of every 500 newborns (95% CI, 1/385-1/625) benefiting from the implementation of gene panels as a first-tier screening test.In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.
基金：
This study was supported by Scientific Research Project Plan of Shanghai Municipal Health
Commission (202140346), Science and Technology Projects in Guangzhou (202201020618) and Application
Technology Research and Development Project of Inner Mongolia Autonomous Region (2020GG0119).
第一作者机构：[1]Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research & Center for Clinical Innovation and Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
共同第一作者：
通讯作者：
通讯机构：[1]Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research & Center for Clinical Innovation and Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.[10]Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital Affiliated to Shandong First Medical University, Jinan, China.[*1]Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Rd, Yangpu District, Shanghai 200092, China[*2]Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital Affiliated to Shandong First Medical University, 2 Jianguo Xiaojingsan Rd, Shizhong District, Jinan 250001, China
推荐引用方式(GB/T 7714)：
Chen Ting,Fan Chunna,Huang Yonglan,et al.Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening[J].JAMA Network Open.2023,6(9):e2331162.doi:10.1001/jamanetworkopen.2023.31162.
APA：
Chen Ting,Fan Chunna,Huang Yonglan,Feng Jizhen,Zhang Yinhong...&Han Lianshu.(2023).Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.JAMA Network Open,6,(9)
MLA：
Chen Ting,et al."Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening".JAMA Network Open 6..9(2023):e2331162
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