アブストラクト
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 |
- 全文ダウンロード: 従量制、基本料金制の方共に770円(税込) です。
参考文献
- 1) Bianchi DW, Platt LD, Goldberg JD, et al. : Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012 ; 119 : 890-901
- 2) 佐々木愛子, 左合治彦, 吉橋博史, ほか : 日本における出生前遺伝学的検査の動向. 日本周産期・新生児医学会雑誌 2018 ; 54 : 1 : 101-107
- 3) Santorum M, Wright D, Syngelaki A, et al. : Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2017 ; 49 : 714-720
- 4) Leiva PME, Garvelink MM, Becerra PMM, et al. : Decision aids that support decisions about prenatal testing for Down syndrome : an environmental scan. BMC Med Inform Decis Mak 2015 ; doi:10.1186/s12911-015-0199-6
- 5) The Fetal Medicine Centre and The Fetal Medicine Foundation HP.
残りの15件を表示する
- 6) Nicolaides KH : Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004 ; 191 : 45-67
- 7) 日本遺伝カウンセリング学会 : 「出生前遺伝カウンセリングに関する提言」
- 8) Snijders RM, Noble P, Sebire N, et al. : UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Lancet 1998 ; 351 : 343-346
- 9) Bakker M, Pajkrt E, Bilardo CM : Increased nuchal translucency with normal karyotype and anomaly scan : what next?. Best Pract Res Clin Obstet Gynaecol 2014 ; 28 : 355-366
- 10) Society for Maternal Fetal Medicine(SFMF), Norton ME, Biggio JR, et al. : The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol 2017 ; 216 : B2-B7
- 11) Cheng YKY, Leung WC, Leung TY, et al. : Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome : a prospective study. BJOG 2017 ; 125 : 451-459
- 12) 日本産科婦人科学会, 日本産科婦人科医会 : "産婦人科診療ガイドライン-産科編". CQ106-3NT(Nuchal Translucency)値の計測については?
- 13) 日本医学会「遺伝子・健康・社会」検討委員会-母体血を用いた新しい出生前遺伝学的検査 : 「実施報告」について.
- 14) Sago H, Sekizawa A and Japan NIPT consortium. : Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan : 1-year experience. Prenat Diagn 2015 ; 35 : 1-6
- 15) Takeda E, Suzumori N, Kumagai K, et al. : Background of couples undergoing non-invasive prenatal testing in Japan. J Obstet Gynecol Res 2016 ; 42 : 1222-1228
- 16) Skirton H, Goldsmith L, Jackson L, et al. : Offering prenatal diagnostic tests : European guidelines for clinical practice. Eur J Hum Genet 2014 ; 22 : 580-586
- 17) NIPTコンソーシアムHP
- 18) 西山深雪, 左合治彦, 鈴森伸宏, ほか : Non-invasive prenatal genetic testingの遺伝カウンセリング担当者に対する質問紙調査. 日遺伝カウンセリング会誌 2016 ; 37 : 11-20
- 19) Nuchal Translucency Quality Review HP.
- 20) 石松あき, 村絵里香, 富永るみ子, ほか : 胎児染色体数的異常に対する無侵襲的遺伝学的検査(NIPT)のカウンセリングを受ける男女(夫婦)の意思決定に関わる要因について. 遺伝看護学会誌 2019 ; 17 : 32-39