国际妇产科学杂志 ›› 2017, Vol. 44 ›› Issue (1): 67-70.

• 综述 • 上一篇    下一篇

双胎妊娠胎儿染色体非整倍体产前筛查的研究进展

姚静怡1,崔岚2,岳胜2,辛力1   

  1. 1. 天津妇女儿童保健中心
    2. 天津市妇女儿童保健中心
  • 收稿日期:2016-08-17 修回日期:2016-09-29 出版日期:2017-02-15 发布日期:2017-03-28
  • 通讯作者: 姚静怡 E-mail:yaojingyi82@126.com

Progress with aneuploidy prenatal screening in twin pregnancies

  • Received:2016-08-17 Revised:2016-09-29 Published:2017-02-15 Online:2017-03-28

摘要: 双胎妊娠妇女怀有染色体非整倍体患儿的发生率较单胎高,同时其筛查受到很多因素的影响。双胎妊娠的合子性质非常重要,直接影响了风险率的计算模式,临床实践中多以早孕期膜性间接判断。目前双胎妊娠胎儿染色体非整倍体筛查主要集中在早孕期颈部半透明组织厚度(nuchal translucency, NT)筛查,早孕期联合筛查(NT+血清学筛查),中孕期血清学筛查以及无创基因胎儿染色体非整倍体检测( noninvasive prenatal testing,NIPT)。同时筛查后咨询,产前诊断,异常患儿的处理涉及临床、伦理和技术等多个方面的问题。本文对近年来国内外关于双胎妊娠胎儿染色体非整倍体产前筛查研究进展作一综述。

Abstract: The incidence of aneuploidy in twin pregnancy women is higher than singleton pregnancies women, and the prenatal screening effect is influenced by many factors. Zygosity in twin pregnancy is very important, which directly affects the risk calculation models. Normally, we use ultrasound to detect fetal human chorionic. It can indirectly judge the Zygosity of twin pregnancy. Currently, the fetal chromosomal aneuploidy screening in twin pregnancy is mainly concentrated in: the first trimester nuchal translucency thickness (NT) screening, first trimester combined screening (NT+ serum screening): second trimester serum screening, as well as the noninvasive prenatal testing(NIPT). It involved in many aspects, like the consultation after screening, prenatal diagnosis, dealing in fetal with aneuploidy, ethical and technical. This article gives an overview of the aneuploidy prenatal screening with twin pregnancy.

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