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<p>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 <i>AGXT</i> 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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年1月28日

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  • François Boemer,
  • Kristine Hovhannesyan,
  • Flavia Piazzon,
  • Frédéric Minner,
  • Myriam Mni,
  • Valérie Jacquemin,
  • Davood Mashhadizadeh,
  • Noor Benmhammed,
  • Vincent Bours,
  • Adeline Jacquinet,
  • Julie Harvengt,
  • Saskia Bulk,
  • Vinciane Dideberg,
  • Laura Helou,
  • Leonor Palmeira,
  • Tamara Dangouloff,
  • Serpil Alkan,
  • Christophe Barrea,
  • Paulina Bartoszek,
  • Emeline Bequet,
  • Hedwige Boboli,
  • Romain Bruninx,
  • Laure Collard,
  • Aurore Daron,
  • François-Guillaume Debray,
  • Marie-Françoise Dresse,
  • Jean-Marie Dubru,
  • Iulia Ebetiuc,
  • Benoit Florkin,
  • Caroline Jacquemart,
  • Céline Kempeneers,
  • Nadège Hennuy,
  • Marie-Christine Lebrethon,
  • Marie Leonard,
  • Patricia Leroy,
  • Angélique Lhomme,
  • Jacques Lombet,
  • Sabine Michotte,
  • Ariane Milet,
  • Anne-Simone Parent,
  • Vincent Rigo,
  • Marie-Christine Seghaye,
  • Sandrine Vaessen,
  • Laurent Servais

摘要

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.