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(総説)
言語種別	英語
査読の有無	査読あり
表題	Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan.
掲載誌名	正式名：Journal of human genetics 略　 称：J Hum Genet ISSNコード：1435232X/14345161
掲載区分	国外
巻・号・頁	71(2),81-89頁
著者・共著者	Yamashita Yuka, Shirato Nahoko, Ishii Tatsuko, Izumi Mikiko, Ichizuka Kiyotake, Tominaga Makiko, Komatsu Reina, Kondo Tetsuro, Wada Seiji, Sago Haruhiko, Ito Yuki, Samura Osamu, Suzumori Nobuhiro, Sawai Hideaki, Katagiri Yukiko, Maeda Yoshiki, Morisaki Hiroko, Namba Akira, Kamei Yoshimasa, Yotsumoto Junko, Hasegawa Yuri, Miura Kiyonori, Nakayama Setsuko, Kawaguchi Satoshi, Hamanoue Haruka, Mimura Kazuya, Matsubara Yuko, Okamoto Yoko, Fujiwara Arisa, Maeda Kazutoshi, Watanabe Takafumi, Ida Akinori, Hayakawa Hiromi, Goto Koshichi, Sekizawa Akihiko
発行年月	2026/02
概要	AIM: This study investigated the association between fetal copy number variations (CNVs) detected by genome-wide NIPT and perinatal outcomes in Japan. METHODS: In a retrospective study of 46,082 patients, analysis focused on 30,373 cases with known birth outcomes. Genome-wide NIPT was performed to detect fetal CNVs > 7 Mb and specific microdeletions (e.g., 22q11.2). RESULTS: Fetal CNVs were detected in 66 patients (0.2%). Adverse outcomes occurred in 14 of these cases (21.2%). Notably, pathogenic CNVs were frequently detected even in the 52 cases (78.8%) with favorable outcomes. CONCLUSION: Pathogenic CNVs are often detected in structurally normal fetuses with favorable short-term outcomes. This discordance presents a significant challenge for prenatal counseling, emphasizing the need for confirmatory testing and long-term follow-up.
DOI	10.1038/s10038-025-01409-y
PMID	40999196