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Current status of non‐invasive prenatal testing in Japan
Author(s) -
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
Publication year - 2017
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.13373
Subject(s) - medicine , genetic counseling , aneuploidy , genetic testing , obstetrics , pregnancy , advanced maternal age , gynecology , family medicine , test (biology) , prenatal diagnosis , fetus , biology , chromosome , gene , paleontology , biochemistry , chemistry , genetics
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.