Two-decade trends in prenatal genetic testing in Japan

Sasaki, Aiko; Yamada, Takahiro; Sago, Haruhiko; Shirato, Nahoko; Sekizawa, Akihiko; Hata, Kenichiro; Masuzaki, Hideaki; Masuzawa, Yuko; Yamamoto, Toshiyuki; Yoshihashi, Hiroshi; Tanaka, Shiro; Shibata, Yuka; Fukushima, Kanako Koike; Kosaki, Kenjiro; Yamada, Shigehito; Nishigaki, Masakazu; Konishi, Ikuo; Miyake, Hidehiko

Two-decade trends in prenatal genetic testing in Japan

Sasaki, Aiko; Yamada, Takahiro; Sago, Haruhiko et al.

Journal of Human Genetics, 2026, 71, 475-478

Permalink : https://hdl.handle.net/2115/99116

このアイテムのアクセス数:38件（2026-10-17 12:24 集計）

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アクセス権	open access
URI	https://hdl.handle.net/2115/99116
タイトル	Two-decade trends in prenatal genetic testing in Japan
著者	Sasaki, Aiko ; Yamada, Takahiro ; Sago, Haruhiko ; Shirato, Nahoko ; Sekizawa, Akihiko ; Hata, Kenichiro ; Masuzaki, Hideaki ; Masuzawa, Yuko ; Yamamoto, Toshiyuki ; Yoshihashi, Hiroshi ; Tanaka, Shiro ; Shibata, Yuka ; Fukushima, Kanako Koike ; Kosaki, Kenjiro ; Yamada, Shigehito ; Nishigaki, Masakazu ; Konishi, Ikuo ; Miyake, Hidehiko
著者名 Sasaki, Aiko
e-Rad_Researcher 20419948 著者名 Yamada, Takahiro
著者名 Sago, Haruhiko
著者名 Shirato, Nahoko
著者名 Sekizawa, Akihiko
著者名 Hata, Kenichiro
著者名 Masuzaki, Hideaki
著者名 Masuzawa, Yuko
著者名 Yamamoto, Toshiyuki
著者名 Yoshihashi, Hiroshi
著者名 Tanaka, Shiro
e-Rad_Researcher 40963301 著者名 Shibata, Yuka
著者名 Fukushima, Kanako Koike
著者名 Kosaki, Kenjiro
著者名 Yamada, Shigehito
著者名 Nishigaki, Masakazu
著者名 Konishi, Ikuo
著者名 Miyake, Hidehiko
言語	英語
発行日	2026-03-02
出版者	Springer Nature
収録物名	Journal of Human Genetics
巻(号)	71
ページ	475-478
抄録	Prenatal genetic testing in Japan has undergone major changes over the past 2 decades. Maternal serum screening (MSS), amniocentesis (AC), and chorionic villus sampling (CVS) have been the principal tools used to identify fetal chromosomal abnormalities. Recently, non-invasive prenatal testing (NIPT) has reshaped clinical decision-making. However, updated national-level data capturing trends in conventional prenatal testing methods are limited. We aimed to assess the current landscape of prenatal genetic testing in Japan. To update the national data, we compiled test volumes from five major high-volume laboratories that analysed prenatal genetic tests and conducted a supplemental nationwide questionnaire-based survey on ultrasound (US)-only screening between 2020 and 2023. Over this period, MSS declined from 34,887 cases in 2018 to 25,553 in 2023, AC from 16,454 in 2014 to 5620 in 2023, and CVS from 2149 in 2015 to 1167 in 2023, whereas US-only screening increased slightly to >10,000 cases annually. The chromosomal abnormality detection rate among AC cases increased from 8% during 2006-2014 to 20.0% in 2023, with trisomy 21 comprising 43.6% of the cases. During the same period, the proportion of mothers aged >= 35 years increased from 14.0% in 2003 to 30.4% in 2023, whereas the proportion of national live births decreased by 35.3%. Thus, declining test volumes cannot be attributed solely to demographic changes but also reflect the influence of NIPT uptake, improved pretest risk stratification, and changing reproductive decision-making supported by expanding genetic counselling. This study provides foundational data for future prenatal genetic testing practices and policies in Japan.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1038/s10038-026-01465-y
PISSN	1434-5161
EISSN	1435-232X
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1038/s10038-026-01465-y