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Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

A Correction to this article was published on 01 August 2018

This article has been updated


The data collected by nation-wide study of noninvasive prenatal genetic testing (NIPT) for trisomy 21 from 21,610 pregnant women with advanced maternal age in Japan were reported. Among 188 NIPT-positive cases, 180 cases were true positive. The incidence of aneuploidy according to maternal age was estimated using a state-space model. Although, the frequency of trisomy increased exponentially with maternal age as previously reported, the maternal age-specific risk for trisomy 21 that was based on the clinical performance of NIPT was lower than the predicted risk in previous Western cohorts based on the data from invasive prenatal testing (Bayesian two-sided tail-area probability P = 0.0156). The empirical positive predictive value (PPV) of NIPT is likely to turn out higher than that of the theoretical PPV calculated from the sensitivity/specificity of the test and the incidence of trisomy 21 from this study.

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  • 01 August 2018

    Since the advance online publication of this article, the authors of the above paper have noticed errors in the list of authors and affiliations. The article with correct author information now appears in this issue.


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We thank all the members of the Japan NIPT consortium, and all clinical geneticists and genetic counselors for their thoughtful cooperation on this project. This study was supported by the Grant of National Center for Child Health and Development 24-3, Japan (to AS and HS).


This work was supported by the Grant of National Center for Child Health and Development 24-3, Japan.

Study collaborators of Japan NIPT Consortium:

Takashi Kaji (The University of Tokushima Faculty of Medicine), Masanobu Ogawa (National Hospital Organization Kyushu Medical Center), Keiichi Matsubara (Ehime University School of Medicine), Haruka Hamanoue (Yokohama City University Graduate School of Medicine), Akimune Fukushima (Iwate Medical University School of Medicine), Masayuki Endo (Osaka University), Kazufumi Haino (Niigata University Medical and Dental Hospital), Hideaki Masuzaki (Nagasaki University Graduate School of Biomedical Sciences), Masaki Ogawa (Tokyo Women’s Medical University Hospital), Shinya Tairaku (Kobe University Graduate School of Medicine), Masato Mizuuchi (Sapporo Medical University School of Medicine), Yoko Okamoto (Osaka Medical Center and Research Institute for Maternal and Child Health), Yukie Kawano (Oita University), Hisashi Masuyama (Okayama University Graduate School of Medicine), Hisao Osada (Chiba University Graduate School of Medicine), Taihei Tsunemi (Nara Medical University), Kazuhisa Maeda (Shikoku Medical Center for Children and Adults), Yasuyo Kasai (Japanese Red Cross Medical Center), Reiko Neki (National Cerebral and Cardiovascular Center), Yukiko Katagiri (Toho University Omori Medical Center), Shunichiro Izumi (Tokai University School of Medicine), Setsuko Nakayama (Aiiku Hospital), Yuko Yokohama (Asahikawa Medical University), Masaya Hirose (Hyogo Prefectural Amagasaki General Medical Center), Kousuke Kawakami (National Hospital Organization Kokura Medical Center), Kiyotake Ichizuka (Showa University Northern Yokohama Hospital), Masakatsu Sase (Yamaguchi Grand Medical Center), Satoru Sakatsume (Dokkyo Medical University Koshigaya Hospital), Tomohiko Tsuruta (Kansai Rosai Hospital)

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Correspondence to Takahiro Yamada.

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The authors declare that they have no conflict of interest.

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Study Collaborators of Japan NIPT Consortium are described separately.

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Yamada, T., Sekizawa, A., Fujii, Y. et al. Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. J Hum Genet 63, 1035–1040 (2018).

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