{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T08:48:46Z","timestamp":1788857326834,"version":"build-2803163510"},"reference-count":10,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T00:00:00Z","timestamp":1635206400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the SMN1 gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatments have been developed and adopted for use in many countries, including the UK. Success of these treatments depends on early diagnosis and intervention in newborn babies, and many countries have implemented a newborn screening (NBS) or pilot NBS program to detect SMN1 exon 7 deletions on dried blood spots. In the UK, there is no current NBS program for SMA, and no pilot studies have commenced. For consideration of adoption of NBS for a new condition, numerous criteria must be satisfied, including critical assessment of a working methodology. This study uses a commercially available real-time PCR assay to simultaneously detect two different DNA segments (SMN1 exon 7 and control gene RPP30) using DNA extracted from a dried blood spot. This study was carried out in a routine clinical laboratory to determine the specificity, sensitivity, and feasibility of SMA screening in a UK NBS lab setting. Just under 5000 normal DBSs were used alongside 43 known SMA positive DBSs. Study results demonstrate that NBS for SMA using real-time PCR is feasible within the current UK NBS Laboratory infrastructure using the proposed algorithm.<\/jats:p>","DOI":"10.3390\/ijns7040069","type":"journal-article","created":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T23:55:23Z","timestamp":1635292523000},"page":"69","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay"],"prefix":"10.3390","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2650-2848","authenticated-orcid":false,"given":"Stuart P.","family":"Adams","sequence":"first","affiliation":[{"name":"SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK"},{"name":"Infection, Immunity and Inflammation Section, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Gravett","sequence":"additional","affiliation":[{"name":"SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Kent","sequence":"additional","affiliation":[{"name":"SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0791-2291","authenticated-orcid":false,"given":"Susanne","family":"Kricke","sequence":"additional","affiliation":[{"name":"SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeboye","family":"Ifederu","sequence":"additional","affiliation":[{"name":"Newborn Screening Unit, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariacristina","family":"Scoto","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences Research & Teaching Department, Molecular Neurosciences, Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Samsuddin","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences Research & Teaching Department, Molecular Neurosciences, Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences Research & Teaching Department, Molecular Neurosciences, Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q\u2013linked spinal muscular atrophy\u2014A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","unstructured":"Office of National Statistics (2021, September 06). Births in England and Wales, Available online: https:\/\/www.ons.gov.uk\/peoplepopulationandcommunity\/birthsdeathsandmarriages\/livebirths."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2017.152","article-title":"Pilot study of population-based newborn screening for spinal muscular atrophy in New York state","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.cll.2020.05.005","article-title":"Diagnostic testing for patients with spinal muscular atrophy","volume":"40","author":"Brandsema","year":"2020","journal-title":"Clin. Lab. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Presymptomatic diagnosis of spinal muscular atrophy through newborn screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.nmd.2019.02.003","article-title":"Newborn screening for SMA in Southern Belgium","volume":"29","author":"Boemer","year":"2019","journal-title":"Neuromuscul. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One Year of Newborn Screening for SMA\u2013Results of a German Pilot Project","volume":"6","author":"Vill","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Gutierrez-Mateo, C., Timonen, A., Vaahtera, K., Jaakkola, M., Houggard, D.M., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Adamsen, D., Filippov, G., and Daillaire, S. (2019). Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5040039"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s10875-014-0007-6","article-title":"Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay","volume":"34","author":"Adams","year":"2014","journal-title":"J. Clin. Immunol."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/4\/69\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:24:00Z","timestamp":1760167440000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/4\/69"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,26]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["ijns7040069"],"URL":"https:\/\/doi.org\/10.3390\/ijns7040069","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,26]]}}}