ヨツモト　ジュンコ   YOTSUMOTO Junko   四元　淳子    所属   埼玉医科大学  医学部 ゲノム医療科    職種   専任講師
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Current status of non-invasive prenatal testing in Japan.
掲載誌名	正式名：The journal of obstetrics and gynaecology research 略　 称：J Obstet Gynaecol Res ISSNコード：14470756/13418076
掲載区分	国外
巻・号・頁	43(8),1245-1255頁
著者・共著者	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
発行年月	2017/08
概要	AIM: This study reports a 3-year nationwide project introducing NIPT in Japan and reviews its status. METHODS: NIPT was performed for high-risk pregnant women alongside genetic counseling. Clinical data and outcomes were recorded. RESULTS: From April 2013 to March 2016, 30,613 tests were conducted across 55 sites; 554 (1.81%) were positive and 30,021 (98.1%) were negative. True-positive rates for trisomies 21, 18, and 13 were 96.5% (279/289), 82.8% (106/128), and 63.6% (28/44), respectively. Out of 13,481 tracked negative cases, two false negatives (0.02%) occurred. CONCLUSION: NIPT showed high accuracy. Structured genetic counseling is crucial for informed decisions, alongside welfare systems to support families raising children with chromosomal diseases.
DOI	10.1111/jog.13373
PMID	28586143