文献

J-GLOBAL ID：202102268799973912   整理番号：21A0204358

胎児トリソミー21,18および13の非侵襲的出生前検査における偽陽性および偽陰性結果の遡及的詳細【JST・京大機械翻訳】

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

著者 (43件)： Suzumori Nobuhiro (Department of Obstetrics and Gynaecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Suzumori Nobuhiro (Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Sekizawa Akihiko (Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan) ,  Takeda Eri (Department of Obstetrics and Gynaecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Takeda Eri (Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Samura Osamu (Department of Obstetrics and Gynaecology, Jikei University School of Medicine, Tokyo, Japan) ,  Sasaki Aiko (Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan) ,  Akaishi Rina (Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan) ,  Wada Seiji (Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan) ,  Hamanoue Haruka (Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan) ,  Hirahara Fumiki (Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan) ,  Sawai Hideaki (Department of Obstetrics and Gynaecology, Hyogo College of Medicine, Nishinomiya, Japan) ,  Nakamura Hiroaki (Department of Obstetrics, Osaka City General Hospital, Osaka, Japan) ,  Yamada Takahiro (Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan) ,  Miura Kiyonori (Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Masuzaki Hideaki (Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Nakayama Setsuko (Boshi-Aiikukai Maternal & Child Health Center, Aiiku Clinic, Tokyo, Japan) ,  Kamei Yoshimasa (Departments of Obstetrics and Gynaecology, Saitama Medical University School of Medicine, Saitama, Japan) ,  Namba Akira (Departments of Obstetrics and Gynaecology, Saitama Medical University School of Medicine, Saitama, Japan) ,  Murotsuki Jun (Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children’s Hospital, Sendai, Japan) ,  Yamaguchi Masayuki (Department of Obstetrics and Gynaecology, Niigata University Medical and Dental Hospital, Niigata, Japan) ,  Tairaku Shinya (Department of Obstetrics and Gynaecology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Maeda Kazuhisa (Department of Obstetrics and Gynaecology, Shikoku Medical Centre for Children and Adults, Kagawa, Japan) ,  Kaji Takashi (Department of Obstetrics and Gynaecology, The University of Tokushima Faculty of Medicine, Tokushima, Japan) ,  Okamoto Yoko (Department of Obstetrics, Osaka Women’s and Child’s Hospital, Osaka, Japan) ,  Endo Masayuki (Department of Obstetrics and Gynaecology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ogawa Masaki (Department of Obstetrics and Gynaecology, Tokyo Women’s Medical University, Tokyo, Japan) ,  Kasai Yasuyo (Department of Obstetrics and Gynaecology, Japanese Red Cross Medical Centre, Tokyo, Japan) ,  Ichizuka Kiyotake (Department of Obstetrics and Gynaecology, Showa University Northern Yokohama Hospital, Yokohama, Japan) ,  Yamada Naoki (Departments of Obstetrics and Gynaecology, Mito Saiseikai General Hospital, Ibaraki, Japan) ,  Ida Akinori (Department of Obstetrics and Gynaecology, Kobe Adventist Hospital, Kobe, Japan) ,  Miharu Norio (Department of Obstetrics and Gynaecology, Chugokudenryoku Hospital, Hiroshima, Japan) ,  Kawaguchi Satoshi (Department of Obstetrics and Gynaecology, Hokkaido University Hospital, Hokkaido, Japan) ,  Hasuo Yasuyuki (Department of Obstetrics and Gynaecology, National Hospital Organization, Kyushu Medical Centre, Fukuoka, Japan) ,  Okazaki Tetsuya (Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan) ,  Ichikawa Mayuko (Department of Obstetrics and Gynaecology, Nara Medical University, Nara, Japan) ,  Izumi Shunichiro (Department of Obstetrics and Gynaecology, Tokai University, Isehara, Japan) ,  Kuno Naohiko (Department of Obstetrics and Gynaecology, AOI Nagoya Hospital, Nagoya, Japan) ,  Yotsumoto Junko (Graduate School of Health and Welfare Sciences, International University of Health and Welfare, Tokyo, Japan) ,  Nishiyama Miyuki (Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan) ,  Shirato Nahoko (Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan) ,  Hirose Tatsuko (Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan) ,  Sago Haruhiko (Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan)
資料名： European Journal of Obstetrics and Gynecology  (European Journal of Obstetrics and Gynecology)
巻： 256  ページ： 75-81  発行年： 2021年 
JST資料番号： W3324A  ISSN： 0301-2115  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 無細胞DNA(cfDNA)結果と関連した母性特性と新生児転帰を,非侵襲的出生前試験(NIPT)における初期血液サンプリング後の偽陽性と偽陰性結果の詳細を評価するために遡及的に分析した。方法:2013年4月~2018年3月の間に不一致cfDNA結果を受けたNIPTを受けている女性を対象に多施設後向き研究を行った。母性背景,胎児分画,zスコア,侵襲性処置結果,および新生児転帰に関して,大規模並列配列決定を用いて得られたNIPTデータを研究した。本研究に参加した女性5645名のうち,54名の偽陽性(0.095%)と3名の偽陰性(0.006%)症例が認められた。54の偽陽性症例のうちの7つ(13.0%)は,超音波検査で消滅した双晶を有した。トリソミー18の18の偽陽性症例のうち,拘束胎盤モザイク症(CPM)は3症例(16.7%)で確認され,一方,CPMはトリソミー21の3つの偽陰性症例のうちの1つに存在した。これらのデータは,偽陽性または偽陰性結果の女性の発生率が比較的低く,このような偽結果がしばしば説明でき,消滅双晶とCPMがNIPT失敗の可能性のある原因であることを示唆する。誤った結果に関する遺伝的コウンセリングはNIPTを受ける前にクライアントにとって重要である。Copyright 2021 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 双晶 ,  超音波検査 ,  遺伝 ,  胎児 ,  胎盤 ,  女性 ,  モザイク性 ,  性徴 ,  *トリソミー ,  *Down症候群
準シソーラス用語： *非侵襲 ,  *偽陰性 ,  無細胞DNA , 【Automatic Indexing@JST】

著者キーワード (5件)： 無細胞DNA ,  CPM ,  胎児分画 ,  NIPT ,  トリソミー

分類 (1件)： 婦人科・産科の診断  (GS02000W)

タイトルに関連する用語 (5件)： 胎児 ,  トリソミー21 ,  非侵襲的出生前検査 ,  偽陽性 ,  偽陰性