Newborn Screening in Japan

Edited by
January 2022
116 pages
  • ISBN978-3-0365-2924-0 (Hardback)
  • ISBN978-3-0365-2925-7 (PDF)

This book is a reprint of the Special Issue Newborn Screening in Japan that was published in

Biology & Life Sciences
Medicine & Pharmacology
Public Health & Healthcare

“Newborn Screening in Japan—2021” is a topical collection of the International Journal of Neonatal Screening. Japan's newborn mass screening (NBS) was started in 1977 at the national level as a national project. Subsequently, screening was conducted for six diseases. From 2014 a tandem mass analyzer (tandem mass) was introduced nationwide, and in addition to the conventional amino acid metabolism disorders urea cycle disorders, organic acid metabolism disorders and fatty acid metabolism disorders have joined the target diseases. Screening is currently conducted for 20 diseases. The acceptance rate of mass screening in Japan is 100%, and top-level screening measures available in the world, such as a quality control system and an inspection system, are carried out. This book is an overview of the history, current status and future of NBS in Japan. I hope that readers are interested in this book.

  • Hardback
© 2022 by the authors; CC BY-NC-ND license
homocystinuria; cystathionine β-synthase deficiency; newborn screening; long-term outcome; social outcome; vitamin B6; methionine; phenylketonuria; hyperphenylalaninemia; phenylalanine hydroxylase; genetic analysis; neonatal screening; genotype–phenotype correlation; phenylketonuria; newborn screening; long-term outcome; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation; congenital hypothyroidism; newborn screening; Japan; re-evaluations; prevalence; newborn screening; lowering of thyroid stimulating hormone screening cutoffs; thyroid dysgenesis; thyroid dyshormonogenesis; transient congenital hypothyroidism; permanent congenital hypothyroidism; delayed rise in TSH; low birth weight; propionic acidemia; tandem mass spectrometry; propionylcarnitine; cardiomyopathy; QT prolongation; congenital adrenal hyperplasia; 21-hydroxylase deficiency; newborn screening; neonatal screening; homocystinuria; methylmalonic acidemia; disorders of cobalamin metabolism; hypomethioninemia; isomer; stable-isotope dilution; derivatization; homocystinuria; cobalamin; biotin; maternal 3-methylcronylglycinuria; argininosuccinic acid; spinal muscular atrophy; SMN1; deletion; incidence; newborn screening; peroxisomal disorders; adrenoleukodystrophy; newborn screening; very-long-chain fatty acids; plasmalogen; phytanic acid; presymptomatic diagnosis; ABCD1; whole-exome sequencing; dried blood spot; neonatal screening; newborn screening; galactosemia; GALM; GALM deficiency; glycogen storage disease type 1a; dried blood spot; allele-specific PCR; mCOP-PCR; melting curve; n/a