国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2018, Vol. 37 ›› Issue (4): 292-296.

• 论著 • 上一篇    下一篇

产前诊断中胎儿性染色体嵌合体的发生率及其妊娠结局

李显筝，许玲，胡晶晶，刘渊，李星   

  1. 511400  广州，广东省妇幼保健院医学遗传中心
  • 收稿日期:2018-03-15 修回日期:2018-05-01 出版日期:2018-07-15 发布日期:2018-07-15
  • 通讯作者: 李星，E-mail: 55758533@qq.com E-mail:55758533@qq.com

The Rate of Sex Chromosomal Mosaicism in Prenatal Diagnosis and Clinical Outcomes

LI Xian-zheng，XU Ling，HU Jing-jing，LIU Yuan，LI Xing   

  1. Medical Genetic Center，Guangdong Women and Children Hospital，Guangzhou 511400，China
  • Received:2018-03-15 Revised:2018-05-01 Published:2018-07-15 Online:2018-07-15
  • Contact: LI Xing，E-mail：55758533@qq.com E-mail:55758533@qq.com

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摘要： 目的：分析妊娠中期产前诊断中胎儿性染色体嵌合体的发生率及其妊娠结局。方法：回顾性分析我院2016年1月—2017年12月10 341例羊水染色体核型分析的结果，进而分析35例性染色体嵌合体的临床结局。结果：妊娠中期通过羊水染色体核型分析的产前诊断病例中，性染色体嵌合体发生率为0.34%（35/10 341），主要涉及3种嵌合类型：45，X/46，XX嵌合（17例）、45，X/46，XY嵌合（8例）和45，X与其他异常核型嵌合（10例）。在35例性染色体嵌合体中，产前诊断指征涉及无创提示性染色体数目异常、唐筛高风险、B型超声（B超）指标异常以及高龄，其终止妊娠率分别为86%（12/14）、83%（5/6）、75%（6/8）和29%（2/7）。结论：当产前诊断检出胎儿性染色体嵌合体时，建议结合染色体微阵列技术、荧光原位杂交检测技术、胎儿脐血核型检测以及B超等结果进行综合分析，从而为产前的遗传学咨询提供更加科学准确的信息和依据。

关键词: 产前诊断, 性染色体畸变, 嵌合体, 妊娠结局

Abstract: Objective：To analyze the rate of sex chromosomal mosaicism in our prenatal diagnosis at the second trimester, and the pregnant outcomes of those fetuses with sex chromosomal mosaicism. Methods: The data of prenatal diagnosis by the karyotype analysis of amniotic fluid, from January 2016 to December 2017, were retrospectively analyzed. The pregnant outcomes of 35 fetuses with sex chromosomal mosaicism were then analyzed. Results: The detection rate of sex chromosomal mosaicism was 0.34% (35/10 341), including three types of mosaicism: mos 45,X/46,XX (17); mos 45,X/46,XY (8); 45,X and other abnormal karyotype mosaic (10). In those cases of sex chromosomal mosaicism, the indications of prenatal diagnosis were the numerical abnormality of sex chromosome by NIPT, the high risk by Down screening, abnormal ultrasound and the advanced maternal age, in which their rates of pregnant termination were 86%(12/14), 83%(5/6), 75%(6/8) and 29%(2/7). Conclusions: It is necessary to confirm further the prenatal diagnosis of sex chromosomal mosaicism by CMA, FISH or the cord blood karyotype analysis as well as ultrasound, so as to provide the scientific and effective reference for prenatal genetic counseling.

Key words: Prenatal diagnosis, Sex chromosome aberrations, Mosaicism, Pregnancy outcomes