摘要
目的分析胎儿染色体异常核型在各种产前诊断指征发生率以及相关因素,为临床遗传咨询提供一定参考。方法对9133例孕中期高危孕妇,在无菌条件下由B超定位行羊膜腔穿刺抽取羊水,培养羊水中胎儿脱落细胞,收获,G显带,进行染色体核型分析。结果在9133份产前诊断羊水样本中,产前诊断指针比例最高为高龄3762例(41.19%);其次为产筛高风险2864例(31.36%)。共检出异常核型479例,异常检出率为5.24%,其中数目异常340例,结构异常139例。数目异常21三体检出最多共189例,结构异常主要以易位和倒位为主。按不同产前诊断指征进行分组统计其异常率,高龄组为2.92%,产筛高风险组为3.21%,无创阳性组为65.38%,超声异常组为9.23%,不良孕产史组为8.44%。结论对具有产前诊断指征的高危孕妇行羊膜腔穿刺术,进行胎儿染色体核型分析,对预防缺陷儿出生具有重要意义。
Objective：To analyze the incidence and related factors of abnormal fetal chromosome in various prenatal diagnosis indications,and to provide some reference for clinical genetic counseling. Methods：Through the amniocentesis to culture amniotic fluid cells under sterile conditions following B ultrasound localization in 9133 cases,conventional harvest,G banding karyotype analysis. Results：The highest proportion of prenatal diagnosis indications was women of advanced maternal age with 3762 cases（41.19%）in 9133 cases of prenatal diagnosis,and the second was women of prenatal screening abnormalities with 2864 cases（31.36%）. There were 479 cases of abnormal karyotype and the rate of abnormal detection was 5.24%,340 cases were found with numerical abnormality and the abnormal structure was 139 cases. Trisomy 21 was the most of numerical abnormality,a total of 189 cases,and the main structural abnormalities were translocation and inversion. The abnormal rate was statistically divided according to the different prenatal diagnostic indications,women of advanced maternal age group was 2.92%,women of prenatal screening abnormalities group was 3.21%,non-invasive prenatal detection anomaly group was 65.38%,fetuses with abnormal ultrasonic group was 9.23%,women with an adverse reproductive history group was 8.44%. Conclusion：Chromosomal karyotype analysis with underwent amniocentesis of pregnant women of different prenatal diagnosis indications is of great significance for the prevention of birth defects in children.
作者
王丽霞
杨艳
刘璇
古丽娜孜
张金花
郭晓利
马光娟
WANG Li-xia;YANG Yan;LIU Xuan;GULINAZI;ZHANG Jin-hua;GUO Xiao-li;MA Guang-juan(Prenatal Diagnose Center of Xinjiang Maternal and Child Health Care Hospital,Urumuqi 83000)
出处
《中国优生与遗传杂志》
2018年第8期39-40,43,共3页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
核型分析
染色体异常
Prenatal diagnosis
karyotyping
chromosomal abnormality
