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Japanese

Title 妊娠初期に出生前遺伝学的検査を希望する高年妊婦における胎児超音波検査の役割
Subtitle 原著
Authors 田浦裕三子1), 佐々木瑠美2), 大場隆2), 片渕秀隆2)
Authors (kana)
Organization 1)熊本大学病院産科婦人科, 2)熊本大学大学院生命科学研究部産科婦人科学講座
Journal 日本周産期・新生児医学会雑誌
Volume 56
Number 1
Page 78-84
Year/Month 2020 / 5
Article 原著
Publisher 日本周産期・新生児医学会
Abstract 「概要」 出生前遺伝学的検査を目的に当施設を受診し遺伝カウンセリングを行った妊婦のうち分娩時35歳以上の高年妊婦627名についてNT(nuchal translucency)を測定し, NT3.0mm未満のスクリーニング陰性群, NT3.0mm以上のスクリーニング陽性群の2群に分け, NT測定が出生前遺伝学的検査の意思決定に及ぼす影響について検討した. スクリーニング陽性は29名(4.6%)で, NT3.0〜3.9mmの部分群では全例がNIPT(non-invasive prenatal genetic testing)を選択したが, NT肥厚が5.0mm以上と顕著であった部分群においては羊水検査実施率が高かった. スクリーニング陰性群の20.1%はNIPTを含めた追加の検査を希望せず妊娠を継続した. NTの情報は出生前遺伝学的検査を希望する妊婦が検査選択の意思決定をする際に影響を及ぼすと考えられた.
Practice 臨床医学:外科系
Keywords NIPT (non-invasive prenatal genetic testing), nuchal translucency, genetic counseling, amniocentesis, decision making

English

Title The role of first trimester fetal ultrasound screening for decision making on prenatal genetic testing in pregnant women of advanced maternal age
Subtitle
Authors Yumiko Taura1), Rumi Sasaki2), Takashi Ohba2), Hidetaka Katabuchi2)
Authors (kana)
Organization 1)Department of Obstetrics and Gynecology, Kumamoto University Hospital, 2)Department of Obstetrics and Gynecology, Kumamoto University Faculty of Life Sciences
Journal Journal of Japan Society of Perinatal and Neonatal Medicine
Volume 56
Number 1
Page 78-84
Year/Month 2020 / 5
Article Original article
Publisher Japan Society of Perinatal and Neonatal Medicine
Abstract Objective: We examined the role of first trimester fetal ultrasound screening in decision making on prenatal genetic testing in pregnant women of advanced maternal age. Design: Cross-sectional study. Methods: From December 2013 to November 2018 at Kumamoto University Hospital (Japan), women aged >-35 years at delivery and who underwent genetic counseling were given the results of their fetal nuchal translucency (NT) measurement. The women were classified into two groups: screening-negative with NT <3.0mm and screening-positive with NT >-3.0mm. The women's preference for prenatal testing after genetic counseling, and the fetal outcome, were retrospectively examined. Results: Of 627 women who had a singleton pregnancy and received NT measurement and genetic counseling, 598 (95.4%) were screening-negative and 29 (4.6%) were screening-positive. Among the screening-negative group, 478 (79.9%) opted for further diagnostic tests consisting of non-invasive prenatal testing (NIPT) (n=440, 73.6%), serum marker tests (n=31, 5.2%), and amniocentesis (n=7, 1.2%). A total of 120 (20.1%) women did not wish to undergo further tests and decided to continue their pregnancy. In the screening-negative group, those who chose NIPT were significantly older and had a more positive impression of assisted reproductive technology. In the screening-positive group, 21 (72.4%) women chose NIPT following the NT measurement. They tended to choose NIPT for mild NT thickening and amniocentesis for higher thickening. Conclusion: Genetic ultrasonography for pregnant women of advanced maternal age and who wished to undergo prenatal genetic testing influenced the choice regarding additional testing. Systematic prenatal genetic testing should be implemented at each institution to aid appropriate decision making.
Practice Clinical surgery
Keywords NIPT (non-invasive prenatal genetic testing), nuchal translucency, genetic counseling, amniocentesis, decision making
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