{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:03:01Z","timestamp":1792803781057,"version":"4.5.0"},"reference-count":24,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda","id":[{"id":"https:\/\/ror.org\/04hjbmv12","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Leon Fredericq Foundation"},{"name":"Sanofi","id":[{"id":"https:\/\/ror.org\/02n6c9837","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Orchard Therapeutics","id":[{"id":"https:\/\/ror.org\/050adjk75","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Zentech"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Purpose: Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. Methods: A process was developed that informed the future parents about the project and collected their consent during a face-to-face discussion with a trained investigator. The first baby was screened on 1 September 2022. The main objective of the study was to test the feasibility and the acceptability of targeted sequencing at birth as a first-tier newborn screening approach to detect treatable genetic conditions or genetic conditions for which a pre-symptomatic or early symptomatic clinical trial is available. Results: As of 20 June 2024, the parents of 4425 children had been offered the test; 4005 accepted (90.5%) and 420 refused (9.5%). The main reasons for refusal were the research nature of the project and the misunderstanding of what constitutes genetic conditions. Conclusions: These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.<\/jats:p>","DOI":"10.3390\/children11080926","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T12:38:20Z","timestamp":1722515900000},"page":"926","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5435-4774","authenticated-orcid":false,"given":"Tamara","family":"Dangouloff","sequence":"first","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Hovhannesyan","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davood","family":"Mashhadizadeh","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Minner","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Mni","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0608-5861","authenticated-orcid":false,"given":"Laura","family":"Helou","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Piazzon","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8750-6692","authenticated-orcid":false,"given":"Leonor","family":"Palmeira","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4470-9524","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Boemer","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Lab, Department of Humans Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-4061","authenticated-orcid":false,"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege, University of Liege, 4000 Liege, Belgium"},{"name":"MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX1 3QR, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"key":"ref_1","unstructured":"Wilson, J.M.G., and Jungner, G. 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