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	Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.
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	60(3),133-7頁
著者・共著者	Nishiyama Miyuki, Yan Jim, Yotsumoto Junko, Sawai Hideaki, Sekizawa Akihiko, Kamei Yoshimasa, Sago Haruhiko
発行年月	2015/03
概要	AIM: This study investigated the frequency and types of abnormal fetal karyotypes detected via amniocentesis before 22 weeks of gestation in Japan.METHODS: We retrospectively analyzed 28,983 amniotic fluid specimens collected for fetal karyotyping.RESULTS: The overall incidence of abnormal karyotypes was 6.0%. Advanced maternal age (AMA $\ge$ 35 years) was the primary indication, accounting for over half of the cases. Abnormal karyotypes were most frequent in referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screens (5.3%) and AMA alone (2.8%). Autosomal aneuploidies (64.0%) and sex chromosome aneuploidies (11.6%) made up three-fourths of the abnormalities. Clinically significant abnormal karyotypes increased with maternal age.CONCLUSION: Amniocentesis in Japan is predominantly performed due to AMA. The frequency and distribution of abnormal karyotypes vary across clinical indications.
DOI	10.1038/jhg.2014.116
PMID	25566756