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	Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy.
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	61(7),647-52頁
著者・共著者	Suzumori Nobuhiro, Ebara Takeshi, Yamada Takahiro, Samura Osamu, Yotsumoto Junko, Nishiyama Miyuki, Miura Kiyonori, Sawai Hideaki, Murotsuki Jun, Kitagawa Michihiro, Kamei Yoshimasa, Masuzaki Hideaki, Hirahara Fumiki, Saldivar Juan-Sebastian, Dharajiya Nilesh, Sago Haruhiko, Sekizawa Akihiko,
発行年月	2016/07
概要	AIM: This study evaluated NIPT fetal fractions (FFs) by maternal characteristics and chromosome-specific aneuploidies.METHODS: In this multicenter cohort study, FFs from 6,993 women undergoing NIPT via massively parallel sequencing were calculated using a multivariate model and correlated with maternal weight, height, and z-scores.RESULTS: FF was inversely correlated with maternal weight ($P < 0.001$). The median FF was 13.7% for euploid cases ($n = 6,850$) and 13.6% for trisomy 21 ($n = 70$). However, median FFs were significantly lower for trisomy 18 (11.0%; $n = 35$) and trisomy 13 (8.0%; $n = 9$).CONCLUSION: FFs for trisomies 13 and 18 are significantly lower than for euploid samples, which may make detecting these two aneuploidies more challenging.
DOI	10.1038/jhg.2016.25
PMID	26984559