ArticleFrontiers in genetics2019
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 70 citations in OpenAlex.
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.Scientific reports · 2021Trial
- A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.International journal of neonatal screening · 2026Review
- Associations Between Gestational Diabetes Mellitus and Neonatal Acyl Metabolic Profiles: An Empirical Study Based on a Birth Cohort.Diabetes, metabolic syndrome and obesity : targets and therapy · 2026Article
- Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.International journal of neonatal screening · 2025Review
- Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.Orphanet journal of rare diseases · 2025Article
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.Scientific reports · 2025Observational
- Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.Italian journal of pediatrics · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method.World journal of pediatrics : WJP · 2024Article
- Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran.Molecular genetics and metabolism reports · 2024Article
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.Orphanet journal of rare diseases · 2024Article
- Newborn screening for fatty acid oxidation disorders in a southern Chinese population.Heliyon · 2024Article
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.PeerJ · 2024Article
- Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.Orphanet journal of rare diseases · 2023Article
- A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.World journal of pediatrics : WJP · 2023Article
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.Molecular genetics & genomic medicine · 2023Article
- Molecular genetic screening of full-term small for gestational age.BMC pediatrics · 2023Article
- Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.Pharmacogenomics and personalized medicine · 2023Article
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province. We collected clinical data from three NBS centers. All infants followed a unified screening and diagnosis process. After obtaining informed consent, dried blood spots (DBSs) were collected and analyzed by TMS. If the results fell outside of the cut-off value, repeat analysis was performed. If the re-test results remained abnormal, the infant was recalled for further assessment. We performed targeted sequencing using the extended edition panel of inborn errors of metabolism (IEM) to detect 306 genes using the Illumina HiSeq 2500 platform. A total of 536,008 babies underwent NBS by TMS in three NBS centres. In total, 194 cases were eventually diagnosed with various types of inherited metabolic diseases, with an overall incidence of 1/2763. There were 23 types of diseases, including ten amino acid disorders (43.5%), eight organic acidaemias (34.8%) and five fatty acid oxidation defects (21.7%). In these infants, we clearly identified variants of disease-causing genes by next-generation sequencing (NGS). Most had two variants and others had one or three variants: 88% of gene variants were heterozygous and 12% were homozygous. There is a certain incidence of IEM in Jiangsu Province and it is necessary to carry out screening for 27 diseases. Meanwhile, NGS combined with TMS offers an enhanced plan for NBS for IEM.
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