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Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.

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Title: Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.
Authors: Masuda K; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kmasuda0930@gmail.com., Mishima H; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.; Department of Human Genetics, Leading Research Core Unit, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan., Yoshiura KI; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.; Department of Human Genetics, Leading Research Core Unit, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan., Kitajima Y; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Miura S; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Hasegawa Y; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Ichizuka K; Department of Obstetrics and Gynecology, Showa Medical University Northern Yokohama Hospital, Yokohama, Japan., Tominaga M; Center for Clinical Genetics and Genomic Medicine, Showa Medical University Northern Yokohama Hospital, Yokohama, Japan., Komatsu R; Department of Obstetrics and Gynecology, Showa Medical University Koto Toyosu Hospital, Tokyo, Japan., Kondo T; Department of Obstetrics and Gynecology, Showa Medical University Koto Toyosu Hospital, Tokyo, Japan., Wada S; National Center for Child Health and Development, Tokyo, Japan.; Sanno Birth Center, Tokyo, Japan., Sago H; National Center for Child Health and Development, Tokyo, Japan., Ito Y; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan., Samura O; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan., Suzumori N; Department of Clinical Genetics, Iwate Medical University, Morioka, Japan., Sawai H; Department of Obstetrics and Gynecology, Hyogo Medical University, Nishinomiya, Japan., Katagiri Y; Department of Obstetrics and Gynecology, Toho University Omori Medical Center, Tokyo, Japan., Maeda Y; Department of Obstetrics and Gynecology, Sakakibara Heart Institute, Tokyo, Japan., Morisaki H; Department of Clinical Genetics, Sakakibara Heart Institute, Tokyo, Japan., Namba A; Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Moroyama, Japan., Kamei Y; Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Moroyama, Japan., Yotsumoto J; Department of Genomics Medicine, Saitama Medical University, Moroyama, Japan., Shirato N; Department of Obstetrics and Gynecology, Showa Medical University School of Medicine, Tokyo, Japan., Nakayama S; Department of Prenatal Diagnosis, Aiiku Clinic, Tokyo, Japan., Kawaguchi S; Department of Obstetrics and Gynecology, Hokkaido University Hospital, Sapporo, Japan., Hamanoue H; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Mimura K; Department of Obstetrics and Gynecology, Osaka University Hospital, Suita, Japan., Matsubara Y; Department of Obstetrics and Gynecology, Ehime University Hospital, Toon, Japan., Okamoto Y; Department of Obstetrics and Gynecology, Osaka Women's and Children's Hospital, Izumi, Japan., Fujiwara A; Department of Obstetrics and Gynecology, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan., Maeda K; Department of Obstetrics and Gynecology, Shikoku Medical Center for Children and Adults, Zentsuji, Japan., Watanabe T; Department of Obstetrics and Gynecology, Fukushima Medical University Hospital, Fukushima, Japan., Ida A; Department of Obstetrics and Gynecology, Kobe Adventist Hospital, Kobe, Japan., Hayakawa H; Department of Obstetrics, Aichi Children's Health and Medical Center, Obu, Japan., Goto K; Eurofins GeneTech Inc., Tokyo, Japan., Sekizawa A; Department of Obstetrics and Gynecology, Showa Medical University School of Medicine, Tokyo, Japan., Miura K; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Source: Journal of human genetics [J Hum Genet] 2026 Jun; Vol. 71 (6), pp. 335-342. Date of Electronic Publication: 2026 Jan 13.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: <searchLink fieldCode="AU" term="%22Masuda+K%22">Masuda K</searchLink>; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kmasuda0930@gmail.com.<br /><searchLink fieldCode="AU" term="%22Mishima+H%22">Mishima H</searchLink>; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.; Department of Human Genetics, Leading Research Core Unit, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshiura+KI%22">Yoshiura KI</searchLink>; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.; Department of Human Genetics, Leading Research Core Unit, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Kitajima+Y%22">Kitajima Y</searchLink>; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Miura+S%22">Miura S</searchLink>; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Hasegawa+Y%22">Hasegawa Y</searchLink>; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Ichizuka+K%22">Ichizuka K</searchLink>; Department of Obstetrics and Gynecology, Showa Medical University Northern Yokohama Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Tominaga+M%22">Tominaga M</searchLink>; Center for Clinical Genetics and Genomic Medicine, Showa Medical University Northern Yokohama Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Komatsu+R%22">Komatsu R</searchLink>; Department of Obstetrics and Gynecology, Showa Medical University Koto Toyosu Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kondo+T%22">Kondo T</searchLink>; Department of Obstetrics and Gynecology, Showa Medical University Koto Toyosu Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+S%22">Wada S</searchLink>; 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Department of Obstetrics and Gynecology, Sakakibara Heart Institute, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Morisaki+H%22">Morisaki H</searchLink>; Department of Clinical Genetics, Sakakibara Heart Institute, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Namba+A%22">Namba A</searchLink>; Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Moroyama, Japan.<br /><searchLink fieldCode="AU" term="%22Kamei+Y%22">Kamei Y</searchLink>; Department of Obstetrics and Gynecology, Saitama Medical University Hospital, Moroyama, Japan.<br /><searchLink fieldCode="AU" term="%22Yotsumoto+J%22">Yotsumoto J</searchLink>; Department of Genomics Medicine, Saitama Medical University, Moroyama, Japan.<br /><searchLink fieldCode="AU" term="%22Shirato+N%22">Shirato N</searchLink>; Department of Obstetrics and Gynecology, Showa Medical University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nakayama+S%22">Nakayama S</searchLink>; Department of Prenatal Diagnosis, Aiiku Clinic, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kawaguchi+S%22">Kawaguchi S</searchLink>; Department of Obstetrics and Gynecology, Hokkaido University Hospital, Sapporo, Japan.<br /><searchLink fieldCode="AU" term="%22Hamanoue+H%22">Hamanoue H</searchLink>; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Mimura+K%22">Mimura K</searchLink>; Department of Obstetrics and Gynecology, Osaka University Hospital, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Matsubara+Y%22">Matsubara Y</searchLink>; Department of Obstetrics and Gynecology, Ehime University Hospital, Toon, Japan.<br /><searchLink fieldCode="AU" term="%22Okamoto+Y%22">Okamoto Y</searchLink>; Department of Obstetrics and Gynecology, Osaka Women's and Children's Hospital, Izumi, Japan.<br /><searchLink fieldCode="AU" term="%22Fujiwara+A%22">Fujiwara A</searchLink>; Department of Obstetrics and Gynecology, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Maeda+K%22">Maeda K</searchLink>; Department of Obstetrics and Gynecology, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.<br /><searchLink fieldCode="AU" term="%22Watanabe+T%22">Watanabe T</searchLink>; Department of Obstetrics and Gynecology, Fukushima Medical University Hospital, Fukushima, Japan.<br /><searchLink fieldCode="AU" term="%22Ida+A%22">Ida A</searchLink>; Department of Obstetrics and Gynecology, Kobe Adventist Hospital, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Hayakawa+H%22">Hayakawa H</searchLink>; Department of Obstetrics, Aichi Children's Health and Medical Center, Obu, Japan.<br /><searchLink fieldCode="AU" term="%22Goto+K%22">Goto K</searchLink>; Eurofins GeneTech Inc., Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Sekizawa+A%22">Sekizawa A</searchLink>; Department of Obstetrics and Gynecology, Showa Medical University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Miura+K%22">Miura K</searchLink>; Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Jun; Vol. 71 (6), pp. 335-342. <i>Date of Electronic Publication: </i>2026 Jan 13.
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