{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:15:19Z","timestamp":1787062519497,"version":"build-2736575974"},"reference-count":56,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development (AMED)","doi-asserted-by":"publisher","award":["JP19gk0110041"],"award-info":[{"award-number":["JP19gk0110041"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"General Incorporated Association Nihon Shoni Senshin Chiryo Kyogikai","award":["JP19gk0110041"],"award-info":[{"award-number":["JP19gk0110041"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible to simultaneously screen for severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative real-time polymerase chain reaction (qPCR) assays. We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and SMA were diagnosed through the optional NBS and treated at early stages (before symptoms appeared). Our results show how multiplex PCR-based NBS can benefit large-scale NBS implementation projects for new target diseases.<\/jats:p>","DOI":"10.3390\/genes15030314","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T06:14:22Z","timestamp":1709100862000},"page":"314","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-4670","authenticated-orcid":false,"given":"Tomokazu","family":"Kimizu","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0391-6957","authenticated-orcid":false,"given":"Masatoshi","family":"Nozaki","sequence":"additional","affiliation":[{"name":"Department of Neonatal Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"},{"name":"Department of Perinatal and Pediatric Infectious Diseases, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yousuke","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihisa","family":"Sawada","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misaki","family":"Morisaki","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akemi","family":"Irie","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuiko","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7993-1964","authenticated-orcid":false,"given":"Eriko","family":"Nishi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4466-1559","authenticated-orcid":false,"given":"Masanobu","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Nutrition, and Endocrinology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-8403","authenticated-orcid":false,"given":"Kohsuke","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Defense Medical College, Saitama 359-0042, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, 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