国际妇产科学杂志

国际妇产科学杂志 ›› 2011, Vol. 38 ›› Issue (1): 68-71.

• 论著 • 上一篇    下一篇

3 800例羊水细胞染色体核型分析及相关遗传咨询

孙立娟 李 岩 张秀玲 史云芳 李晓洲 张 颖   

  1. 300052天津医科大学总医院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-02-15 发布日期:2011-02-15
  • 通讯作者: 张 颖

Analysis on Karyotype of Amniotic Fluid Cells from 3 800 Fetus and Related Genetic Counseling

SUN Li-juan, LI Yan, ZHANG Xiu-ling, SHI Yun-fang, LI Xiao-zhou, ZHANG Ying   

  1. Tianjin Medical University General Hospital, Tianjin 300052, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-02-15 Online:2011-02-15
  • Contact: ZHANG Ying

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4963

被引次数

35

摘要： 目的：探讨染色体异常核型与产前诊断指征的关系及羊膜腔穿刺术的安全性，为产前遗传咨询提供客观的实验依据。方法：3 800例具备产前诊断指征的妊娠妇女，在知情选择的情况下行羊膜腔穿刺术及染色体核型检测。分析相关数据，追踪羊膜腔穿刺术的结局。结果：羊水细胞一次培养成功率为99.26%（3 772/3 800），两次培养成功率为99.97%（3 795/3 796）。在3 795例羊水细胞培养成功的染色体核型中，检出异常核型120例，异常率为3.16%，其中染色体数目异常率1.61%（61/3 795），结构异常率0.58%（22/3 795），多态性变异异常率0.97%（37/3 795）。产前诊断指征中，按羊膜腔穿刺例数，位于前3位的分别是唐氏综合征筛查高危人群组（以下简称唐筛高危组，3 541例）、不良妊娠分娩史组（95例）和单纯高龄组（≥35岁，83例）。检出染色体异常核型例数前3位的分别是唐筛高危组（103例）、夫妻单方染色体异常组（8例）和单纯高龄组（4例）。染色体核型异常率前3位的分别是夫妻单方染色体异常组（38.10%，8/21，仅1例有临床意义）、超声提示胎儿异常组（9.38%，3/32）和单纯高龄组（4.82%，4/83）。唐筛高危组中，高龄和低龄妊娠妇女染色体核型异常率差异有统计学意义（χ2＝4.342，P ＜0.05）。单纯高龄组与唐筛高危组中高龄妊娠妇女染色体核型异常率差异无统计学意义（χ2＝0.157，P ＞0.05）。胎儿丢失率0.237%（9/3 800），胎死宫内率0.053%（2/3 800）。结论：①唐筛高危、高龄、超声提示胎儿异常及夫妻单方染色体异常者均有必要进行产前诊断。②羊膜腔穿刺术相对安全。③根据相关实验数据对高危妊娠妇女进行个体化遗传咨询是必要的。

关键词: 羊膜腔穿刺术, 产前诊断, 核型分析, 染色体畸变, 遗传咨询

Abstract: Objective: In order to constitute a basis for genetic counseling, we studied the relationship between fetal chromosomal aberrations and prenatal diagnosis indications, and analyzed the security of amniocentesis. Methods: Fetal chromosomal karyotypes were examined in 3 800 pregnant women with amniotic cell culture in accordance with the indications for prenatal diagnosis. We studied the abnormal rate of fetal chromosomal karyotypes, searched the distribution of chromosomal abnormalities and the relationship between fetal chromosomal abnormalities and prenatal diagnosis indications. We also followed the outcome of amniocentesis to evaluate the security of amniocentesis. Results: The success rate of first amniotic cell culture was 99.26%（3 772/3 800）. The success rate of second amniotic cell culture was 99.97%（3 795/3 796）. One hundred and twenty cases chromosomal aberrations were detected in 3 795 cases and the abnormal rate was 3.16%. Of which, 61 cases were numeric abnormalities（1.61%, 61/3 795）, 22 cases were structural abnormalities（0.58%, 22/3 795）and 37 cases were polymorphism（0.97%, 37/3 795）. According to cases of the pregnant women participated in prenatal diagnosis, the top three were Down′s high-risk（3 541 cases）, history of adverse-pregnant (95 cases) and advanced maternal age（≥35, 83 cases）. According to the number of fetal chromosomal aberrations detected, the top three were Down′s high-risk（103 cases）, abnormal chromosome carriers（8 cases）and advanced maternal age（4 cases）. Different indications for prenatal diagnosis in the abnormal rate is different, and the top three were abnormal chromosome carriers（38.10%, 8/21, only one case had clinical significance）, abnormal ultrasonographic findings （9.38%, 3/32）and advanced maternal age（4.82%, 4/83）. In Down′s high-risk group, the abnormal rate in women with old maternal age and the young women had significant difference（χ2=4.342, P <0.05）. Women with only old maternal age compared with women with old maternal age in Down′s high-risk group, the abnormal rate had no significant difference（χ2=0.157, P >0.05）. Lost rate of fetal was 0.237% (9/3 800). Dead rate of fetal in uterus was 0.053%（2/3 800）. Conclusions: First, prenatal diagnosis should be offered to pregnant woman with Down′s high-risk, old maternal age and abnormal ultrasonographic findings. Second, amniocentesis is a safe method. Third, it′s necessary to supply individualized genetic counseling to high risk pregnant woman according to related experimental data.

Key words: Amniocentesis, Prenatal diagnosis, Karyotypeing, Chromosomal aberrations, Genetic counseling