Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years

DOI Web Site 参考文献55件 オープンアクセス
  • Tomokazu Kimizu
    Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Masatoshi Nozaki
    Department of Neonatal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Yousuke Okada
    Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Akihisa Sawada
    Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Misaki Morisaki
    Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Hiroshi Fujita
    Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Akemi Irie
    Department of Laboratory Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Keiko Matsuda
    Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Yuiko Hasegawa
    Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Eriko Nishi
    Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Nobuhiko Okamoto
    Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Masanobu Kawai
    Department of Pediatric Gastroenterology, Nutrition, and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Kohsuke Imai
    Department of Pediatrics, National Defense Medical College, Saitama 359-0042, Japan
  • Yasuhiro Suzuki
    Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Kazuko Wada
    Department of Neonatal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • Nobuaki Mitsuda
    Department of Maternal Fetal Medicine, Osaka Women’s and Children’s Hospital, Izumi 594-1101, Japan
  • 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

  • Genes

    Genes 15 (3), 314-, 2024-02-28

    MDPI AG

参考文献 (55)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ