Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
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- Tomokazu Kimizu
- Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Masatoshi Nozaki
- Department of Neonatal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Yousuke Okada
- Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Akihisa Sawada
- Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Misaki Morisaki
- Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Hiroshi Fujita
- Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Akemi Irie
- Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Keiko Matsuda
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Yuiko Hasegawa
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Eriko Nishi
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Nobuhiko Okamoto
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Masanobu Kawai
- Department of Pediatric Gastroenterology, Nutrition, and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Kohsuke Imai
- Department of Pediatrics, National Defense Medical College, Saitama 359-0042, Japan
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- Yasuhiro Suzuki
- Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Kazuko Wada
- Department of Neonatal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Nobuaki Mitsuda
- Department of Maternal Fetal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
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- Shinobu Ida
- Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
説明
<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>
収録刊行物
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- Genes
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Genes 15 (3), 314-, 2024-02-28
MDPI AG
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キーワード
詳細情報 詳細情報について
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- CRID
- 1360021390564415744
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- ISSN
- 20734425
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- 資料種別
- journal article
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- データソース種別
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- Crossref
- KAKEN
- OpenAIRE