Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perspective
  • Published:

Two-decade trends in prenatal genetic testing in Japan

Journal of Human Genetics (2026)Cite this article

Subjects

Abstract

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Fig. 1

Similar content being viewed by others

References

  1. Sago H, Sekizawa A. Japan NIPT consortium. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. Prenat Diagn. 2015;35:1–6. https://doi.org/10.1002/pd.4539.

    Article  Google Scholar 

  2. Samura O, Sekizawa A, Suzumori N, Sasaki A, Wada S, Hamanoue H, et al. Current status of non-invasive prenatal testing in Japan. J Obstet Gynaecol Res. 2017;43:1245–55. https://doi.org/10.1111/jog.13373.

    Article  PubMed  Google Scholar 

  3. Health Labour Science Research Grant Project in FY2021 (Basic Research on Raising Next-Generation Children, including Overcoming Children’s Diseases), Informational pamphlets for pregnant women and their families. 2023. https://jams-prenatal.jp/file/obstetrics_medical_leaflet_en.pdf (accessed 15 Dec 2025).

  4. Sasaki A, Sago H, Yoshihashi H, Yamada S, Miyake H, Suzumori N, et al. Current status of prenatal diagnosis in Japan 1998-2016 (in Japanese) Nihon Shusanki Shinseiji Igakkai Zassi. 2018;54:101–7.

  5. The Fetal Medicine Foundation. NT Certification and accredited practitioners list. 2022 and 2024. https://fetalmedicine.org/lists/map/certified/NT (accessed 15 Dec 2025).

  6. The Steering Committee on the Certification System for Prenatal Testing, Annual Implementation Status Report, Fiscal Year 2023. 2023. (in Japanese) https://jams-prenatal.jp/file/nipt_report2023.pdf (accessed 15 Dec 2025).

  7. Ministry of Health, Labour and Welfare. Vital Statistics of Japan 2023. 2023. https://www.mhlw.go.jp/english/database/db-hw/vs01.html (accessed 15 Dec 2025).

  8. Sasaki A, Sawai H, Masuzaki H, Hirahara F, Sago H. Low prevalence of genetic prenatal diagnosis in Japan. Prenat Diagn. 2011;31:1007–9. https://doi.org/10.1002/pd.2816.

    Article  PubMed  Google Scholar 

  9. Maddocks DG, Alberry MS, Attilakos G, Madgett TE, Choi K, Soothill PW, et al. The SAFE project: towards non-invasive prenatal diagnosis. Biochem Soc Trans. 2009;37:460–5. https://doi.org/10.1042/BST0370460.

    Article  CAS  PubMed  Google Scholar 

  10. Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol. 2014;211:651.e1–7. https://doi.org/10.1016/j.ajog.2014.06.038.

    Article  PubMed  Google Scholar 

  11. Sebire E, Rodrigo CH, Bhattacharya S, Black M, Wood R, Vieira R. The implementation and impact of non-invasive prenatal testing (NIPT) for Down’s syndrome into antenatal screening programs: a systematic review and meta-analysis. PLoS One. 2024;19:e0298643 https://doi.org/10.1371/journal.pone.0298643.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Shirato N, Sekizawa A, Miyagami K, Sakamoto M, Yamada T, Hirose T, et al. Impact of the new government-involved noninvasive prenatal testing certification system on the awareness of pregnant women about noninvasive prenatal testing in Japan. J Obstet Gynaecol Res. 2024;50:1542–51. https://doi.org/10.1111/jog.16052.

    Article  PubMed  Google Scholar 

  13. Kamihara Y, Ozawa K, Ogawa K, Muromoto J, Sugibayashi R, Wada S, et al. Detection of fetal structural abnormalities at 20 and 30 weeks: a retrospective study of prenatal ultrasound screening. J Med Ultrason. 2025;52:123–31. https://doi.org/10.1007/s10396-025-01609-1.

    Article  Google Scholar 

Download references

Acknowledgements

The authors would like to express their sincere gratitude to the NT-certified sonographers who participated in the questionnaire survey and provided valuable data for this study.

Funding

This research was supported by a Health and Labour Sciences Research Grant from the Ministry of Health, Labour and Welfare (project code: 20DA2003) and by a Research Project funded by the Children and Families Agency (project code: 23DA0401).

Author information

Authors and Affiliations

  1. Center for Maternal-Fetal, Neonatal and Reproductive Medicine/Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan

    Aiko Sasaki & Haruhiko Sago

  2. Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan

    Takahiro Yamada & Yuka Shibata

  3. Sanno Birth Center, Tokyo, Japan

    Haruhiko Sago

  4. Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan

    Nahoko Shirato & Akihiko Sekizawa

  5. Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Maebashi, Japan

    Kenichiro Hata

  6. Sasebo City General Hospital, Sasebo, Japan

    Hideaki Masuzaki

  7. Niigata College of Nursing, Faculty of Nursing, Niigata, Japan

    Yuko Masuzawa

  8. Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan

    Toshiyuki Yamamoto

  9. Department of Clinical Genetics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Hiroshi Yoshihashi

  10. Department of Clinical Biostatistics/Clinical Biostatistics Course, Graduate School of Medicine, Kyoto University, Kyoto, Japan

    Shiro Tanaka

  11. Department of Genetic Counseling, International University of Health and Welfare Graduate School, Tokyo, Japan

    Kanako Koike Fukushima & Masakazu Nishigaki

  12. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan

    Kenjiro Kosaki

  13. Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan

    Shigehito Yamada

  14. Kyoto University, Kyoto, Japan

    Ikuo Konishi

  15. Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan

    Hidehiko Miyake

Authors
  1. Aiko Sasaki
    View author publications

    Search author on:PubMed Google Scholar

  2. Takahiro Yamada
    View author publications

    Search author on:PubMed Google Scholar

  3. Haruhiko Sago
    View author publications

    Search author on:PubMed Google Scholar

  4. Nahoko Shirato
    View author publications

    Search author on:PubMed Google Scholar

  5. Akihiko Sekizawa
    View author publications

    Search author on:PubMed Google Scholar

  6. Kenichiro Hata
    View author publications

    Search author on:PubMed Google Scholar

  7. Hideaki Masuzaki
    View author publications

    Search author on:PubMed Google Scholar

  8. Yuko Masuzawa
    View author publications

    Search author on:PubMed Google Scholar

  9. Toshiyuki Yamamoto
    View author publications

    Search author on:PubMed Google Scholar

  10. Hiroshi Yoshihashi
    View author publications

    Search author on:PubMed Google Scholar

  11. Shiro Tanaka
    View author publications

    Search author on:PubMed Google Scholar

  12. Yuka Shibata
    View author publications

    Search author on:PubMed Google Scholar

  13. Kanako Koike Fukushima
    View author publications

    Search author on:PubMed Google Scholar

  14. Kenjiro Kosaki
    View author publications

    Search author on:PubMed Google Scholar

  15. Shigehito Yamada
    View author publications

    Search author on:PubMed Google Scholar

  16. Masakazu Nishigaki
    View author publications

    Search author on:PubMed Google Scholar

  17. Ikuo Konishi
    View author publications

    Search author on:PubMed Google Scholar

  18. Hidehiko Miyake
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to Takahiro Yamada.

Ethics declarations

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sasaki, A., Yamada, T., Sago, H. et al. Two-decade trends in prenatal genetic testing in Japan. J Hum Genet (2026). https://doi.org/10.1038/s10038-026-01465-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Version of record:

  • DOI: https://doi.org/10.1038/s10038-026-01465-y

Search

Advanced search

Quick links