Current status of non-invasive prenatal testing in Japan

Osamu Samura, Akihiko Sekizawa, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi HainoShinya Tairaku, Keiichi Matsubara, Kazuhisa Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Yasuhiro Kido, Toshiyuki Fukao, Norio Miharu, Takeshi Nagamatsu, Atsushi Watanabe, Naoki Hamajima, Masaya Hirose, Ayako Sanui, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Aim: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. Results: From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Conclusion: Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases.

Original languageEnglish
Pages (from-to)1245-1255
Number of pages11
JournalJournal of Obstetrics and Gynaecology Research
Volume43
Issue number8
DOIs
Publication statusPublished - 01-08-2017

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Japan
Genetic Counseling
Aneuploidy
Pregnancy Outcome
Down Syndrome
Multicenter Studies
Meta-Analysis
Pregnant Women
Mothers
Parturition

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

Samura, O., Sekizawa, A., Suzumori, N., Sasaki, A., Wada, S., Hamanoue, H., ... Sago, H. (2017). Current status of non-invasive prenatal testing in Japan. Journal of Obstetrics and Gynaecology Research, 43(8), 1245-1255. https://doi.org/10.1111/jog.13373
Samura, Osamu ; Sekizawa, Akihiko ; Suzumori, Nobuhiro ; Sasaki, Aiko ; Wada, Seiji ; Hamanoue, Haruka ; Hirahara, Fumiki ; Sawai, Hideaki ; Nakamura, Hiroaki ; Yamada, Takahiro ; Miura, Kiyonori ; Masuzaki, Hideaki ; Nakayama, Setsuko ; Okai, Takashi ; Kamei, Yoshimasa ; Namba, Akira ; Murotsuki, Jun ; Tanemoto, Tomohiro ; Fukushima, Akimune ; Haino, Kazufumi ; Tairaku, Shinya ; Matsubara, Keiichi ; Maeda, Kazuhisa ; Kaji, Takashi ; Ogawa, Masanobu ; Osada, Hisao ; Nishizawa, Haruki ; Okamoto, Yoko ; Kanagawa, Takeshi ; Kakigano, Aiko ; Kitagawa, Michihiro ; Ogawa, Masaki ; Izumi, Shunichiro ; Katagiri, Yukiko ; Takeshita, Naoki ; Kasai, Yasuyo ; Naruse, Katsuhiko ; Neki, Reiko ; Masuyama, Hisashi ; Hyodo, Maki ; Kawano, Yukie ; Ohba, Takashi ; Ichizuka, Kiyotake ; Kido, Yasuhiro ; Fukao, Toshiyuki ; Miharu, Norio ; Nagamatsu, Takeshi ; Watanabe, Atsushi ; Hamajima, Naoki ; Hirose, Masaya ; Sanui, Ayako ; Shirato, Nahoko ; Yotsumoto, Junko ; Nishiyama, Miyuki ; Hirose, Tatsuko ; Sago, Haruhiko. / Current status of non-invasive prenatal testing in Japan. In: Journal of Obstetrics and Gynaecology Research. 2017 ; Vol. 43, No. 8. pp. 1245-1255.
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author = "Osamu Samura and Akihiko Sekizawa and Nobuhiro Suzumori and Aiko Sasaki and Seiji Wada and Haruka Hamanoue and Fumiki Hirahara and Hideaki Sawai and Hiroaki Nakamura and Takahiro Yamada and Kiyonori Miura and Hideaki Masuzaki and Setsuko Nakayama and Takashi Okai and Yoshimasa Kamei and Akira Namba and Jun Murotsuki and Tomohiro Tanemoto and Akimune Fukushima and Kazufumi Haino and Shinya Tairaku and Keiichi Matsubara and Kazuhisa Maeda and Takashi Kaji and Masanobu Ogawa and Hisao Osada and Haruki Nishizawa and Yoko Okamoto and Takeshi Kanagawa and Aiko Kakigano and Michihiro Kitagawa and Masaki Ogawa and Shunichiro Izumi and Yukiko Katagiri and Naoki Takeshita and Yasuyo Kasai and Katsuhiko Naruse and Reiko Neki and Hisashi Masuyama and Maki Hyodo and Yukie Kawano and Takashi Ohba and Kiyotake Ichizuka and Yasuhiro Kido and Toshiyuki Fukao and Norio Miharu and Takeshi Nagamatsu and Atsushi Watanabe and Naoki Hamajima and Masaya Hirose and Ayako Sanui and Nahoko Shirato and Junko Yotsumoto and Miyuki Nishiyama and Tatsuko Hirose and Haruhiko Sago",
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Samura, O, Sekizawa, A, Suzumori, N, Sasaki, A, Wada, S, Hamanoue, H, Hirahara, F, Sawai, H, Nakamura, H, Yamada, T, Miura, K, Masuzaki, H, Nakayama, S, Okai, T, Kamei, Y, Namba, A, Murotsuki, J, Tanemoto, T, Fukushima, A, Haino, K, Tairaku, S, Matsubara, K, Maeda, K, Kaji, T, Ogawa, M, Osada, H, Nishizawa, H, Okamoto, Y, Kanagawa, T, Kakigano, A, Kitagawa, M, Ogawa, M, Izumi, S, Katagiri, Y, Takeshita, N, Kasai, Y, Naruse, K, Neki, R, Masuyama, H, Hyodo, M, Kawano, Y, Ohba, T, Ichizuka, K, Kido, Y, Fukao, T, Miharu, N, Nagamatsu, T, Watanabe, A, Hamajima, N, Hirose, M, Sanui, A, Shirato, N, Yotsumoto, J, Nishiyama, M, Hirose, T & Sago, H 2017, 'Current status of non-invasive prenatal testing in Japan', Journal of Obstetrics and Gynaecology Research, vol. 43, no. 8, pp. 1245-1255. https://doi.org/10.1111/jog.13373

Current status of non-invasive prenatal testing in Japan. / Samura, Osamu; Sekizawa, Akihiko; Suzumori, Nobuhiro; Sasaki, Aiko; Wada, Seiji; Hamanoue, Haruka; Hirahara, Fumiki; Sawai, Hideaki; Nakamura, Hiroaki; Yamada, Takahiro; Miura, Kiyonori; Masuzaki, Hideaki; Nakayama, Setsuko; Okai, Takashi; Kamei, Yoshimasa; Namba, Akira; Murotsuki, Jun; Tanemoto, Tomohiro; Fukushima, Akimune; Haino, Kazufumi; Tairaku, Shinya; Matsubara, Keiichi; Maeda, Kazuhisa; Kaji, Takashi; Ogawa, Masanobu; Osada, Hisao; Nishizawa, Haruki; Okamoto, Yoko; Kanagawa, Takeshi; Kakigano, Aiko; Kitagawa, Michihiro; Ogawa, Masaki; Izumi, Shunichiro; Katagiri, Yukiko; Takeshita, Naoki; Kasai, Yasuyo; Naruse, Katsuhiko; Neki, Reiko; Masuyama, Hisashi; Hyodo, Maki; Kawano, Yukie; Ohba, Takashi; Ichizuka, Kiyotake; Kido, Yasuhiro; Fukao, Toshiyuki; Miharu, Norio; Nagamatsu, Takeshi; Watanabe, Atsushi; Hamajima, Naoki; Hirose, Masaya; Sanui, Ayako; Shirato, Nahoko; Yotsumoto, Junko; Nishiyama, Miyuki; Hirose, Tatsuko; Sago, Haruhiko.

In: Journal of Obstetrics and Gynaecology Research, Vol. 43, No. 8, 01.08.2017, p. 1245-1255.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Current status of non-invasive prenatal testing in Japan

AU - Samura, Osamu

AU - Sekizawa, Akihiko

AU - Suzumori, Nobuhiro

AU - Sasaki, Aiko

AU - Wada, Seiji

AU - Hamanoue, Haruka

AU - Hirahara, Fumiki

AU - Sawai, Hideaki

AU - Nakamura, Hiroaki

AU - Yamada, Takahiro

AU - Miura, Kiyonori

AU - Masuzaki, Hideaki

AU - Nakayama, Setsuko

AU - Okai, Takashi

AU - Kamei, Yoshimasa

AU - Namba, Akira

AU - Murotsuki, Jun

AU - Tanemoto, Tomohiro

AU - Fukushima, Akimune

AU - Haino, Kazufumi

AU - Tairaku, Shinya

AU - Matsubara, Keiichi

AU - Maeda, Kazuhisa

AU - Kaji, Takashi

AU - Ogawa, Masanobu

AU - Osada, Hisao

AU - Nishizawa, Haruki

AU - Okamoto, Yoko

AU - Kanagawa, Takeshi

AU - Kakigano, Aiko

AU - Kitagawa, Michihiro

AU - Ogawa, Masaki

AU - Izumi, Shunichiro

AU - Katagiri, Yukiko

AU - Takeshita, Naoki

AU - Kasai, Yasuyo

AU - Naruse, Katsuhiko

AU - Neki, Reiko

AU - Masuyama, Hisashi

AU - Hyodo, Maki

AU - Kawano, Yukie

AU - Ohba, Takashi

AU - Ichizuka, Kiyotake

AU - Kido, Yasuhiro

AU - Fukao, Toshiyuki

AU - Miharu, Norio

AU - Nagamatsu, Takeshi

AU - Watanabe, Atsushi

AU - Hamajima, Naoki

AU - Hirose, Masaya

AU - Sanui, Ayako

AU - Shirato, Nahoko

AU - Yotsumoto, Junko

AU - Nishiyama, Miyuki

AU - Hirose, Tatsuko

AU - Sago, Haruhiko

PY - 2017/8/1

Y1 - 2017/8/1

N2 - Aim: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. Results: From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Conclusion: Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases.

AB - Aim: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. Results: From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. Conclusion: Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases.

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Samura O, Sekizawa A, Suzumori N, Sasaki A, Wada S, Hamanoue H et al. Current status of non-invasive prenatal testing in Japan. Journal of Obstetrics and Gynaecology Research. 2017 Aug 1;43(8):1245-1255. https://doi.org/10.1111/jog.13373