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Nature medicine. 2025 Jan 28. doi: 10.1038/s41591-024-03465-x Q158.72024

Population-based, first-tier genomic newborn screening in the maternity ward

产科病房基于人群的一级新生儿基因组筛查 翻译改进

François Boemer  1, Kristine Hovhannesyan  2, Flavia Piazzon  2, Frédéric Minner  2, Myriam Mni  2, Valérie Jacquemin  2, Davood Mashhadizadeh  3, Noor Benmhammed  4, Vincent Bours  5, Adeline Jacquinet  5, Julie Harvengt  5, Saskia Bulk  5, Vinciane Dideberg  5, Laura Helou  6, Leonor Palmeira  6, Tamara Dangouloff  4; BabyDetect Expert Panel; Laurent Servais  4  7

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作者单位

  • 1 Biochemical Genetics Lab, Department of Human Genetics, CHU Liege, University of Liege, Liege, Belgium. f.boemer@chuliege.be.
  • 2 Human Genetics Laboratory, GIGA-R Institute, University of Liege, Liege, Belgium.
  • 3 Independent researcher, Liege, Belgium.
  • 4 Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHU Liege, University of Liege, Liege, Belgium.
  • 5 Department of Human Genetics, CHU Liege, University of Liege, Liege, Belgium.
  • 6 Bioinformatics Unit, Department of Human Genetics, CHU Liege, University of Liege, Liege, Belgium.
  • 7 MDUK Neuromuscular Center, Department of Pediatrics, University of Oxford, Oxford, UK.
  • DOI: 10.1038/s41591-024-03465-x PMID: 39875687

    摘要 翻译

    The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium. In this ongoing observational study, 4,260 families have been informed of the project, and 3,847 consented to participate. To date, 71 disease cases have been identified, 30 of which were not detected by conventional NBS. Glucose-6-phosphate dehydrogenase deficiency was the most frequent disorder detected, with 44 positive individuals. Of the remaining 27 cases, 17 were recessive disorders. We also identified one false-positive case in a newborn in whom two variants in the AGXT gene were identified, which were subsequently shown to be located on the maternal allele. Nine heterozygous variants were identified in genes associated with dominant conditions. Results from the BabyDetect project demonstrate the importance of integrating biochemical and genomic methods in NBS programs. Challenges must be addressed in variant interpretation within a presymptomatic population and in result reporting and diagnostic confirmation.

    Copyright © Nature medicine. 中文内容为AI机器翻译,仅供参考!

    期刊名:Nature medicine

    缩写:NAT MED

    ISSN:1078-8956

    e-ISSN:1546-170X

    IF/分区:58.7/Q1

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