不同产前诊断指征孕妇胎儿染色体异常检测及随访结果分析  

Detection of fetal chromosomal abnormalities by different prenatal diagnostic indicators and analysis of the results of follow-up

作　　者：陈惠娟 刘小燕[1] 刘霖 肖媛媛 胡芷晴 张浩[1] 徐志红[1] CHEN Huijuan;LIU Xiaoyan;LIU Lin;XIAO Yuanyuan;HU Zhiqing;ZHANG Hao;XU Zhihong(Deyang People’s Hospital,Deyang,Sichuan Province,618000)

机构地区：[1]四川省德阳市人民医院,618000

出　　处：《中国计划生育学杂志》2022年第8期1881-1887,共7页Chinese Journal of Family Planning

基　　金：2018年度德阳市科技计划项目(2018SZS083)。

摘　　要：目的:分析羊水细胞异常染色体核型分布及不同产前诊断指征胎儿染色体异常检出情况。方法:回顾性收集2018年1月-2020年6月本院遗传咨询并具有产前诊断指征孕妇3245例临床资料,羊膜腔穿刺术抽取羊水行常规羊水细胞核型分析。结果:3245例样本1例培养失败,培养成功率99.97%。核型分析成功率100%。发现异常核型151例,异常率4.7%。其中染色体数目异常58例(38.4%),染色体结构改变93例(61.6%),包括结构异常54例,染色体多态39例。产前诊断指征中,不同血清学唐氏筛查高风险、孕妇高龄、胎儿颈部透明带厚度(NT)值异常、B超筛查多发畸形、不良妊娠史、无创产前DNA筛查(NIPT)染色体异常高风险、夫妻一方染色体异常、孕期用药或接触至畸因子、夫妻一方有先天异常、家族单基因遗传病者其胎儿染色体异常检出率存在差异(P<0.05),且以NIPT染色体异常高风险者胎儿染色体异常检出率最高(38.2%),其次为夫妻一方染色体异常(25.0%),再次为NT值异常(13.8%)。结论:羊水穿刺术行产前诊断孕妇中以NIPT染色体异常高风险、夫妻一方染色体异常、NT值异常为产前诊断指征的孕妇,胎儿染色体异常检出率最高;联合检测可提高胎儿异常检出效率。Objective: To analyze distribution of abnormal chromosome karyotype in amniotic fluid cells and detection of fetal chromosomal abnormalities based on different prenatal diagnostic indicators. Methods: The clinical data of 3245 pregnant women with prenatal diagnostic indicators after genetic consultation from January 2018 to June 2020 were collected retrospectively. Amniotic fluid of these women was extracted by amniocentesis for routine amniotic fluid cell karyotype analysis. Results: In 3245 samples, there was 1 case with failed in culture, and the success rate of culture was 99.97%. The success rate of karyotype analysis was 100%. 151 cases with abnormal karyotype were found with the abnormal rate of 4.7%. There were 58 cases(38.4%) with abnormal chromosome number, 93 cases(61.6%) with structural changes of chromosome(including 54 cases with structural abnormalities and 39 cases with chromosome polymorphism). There was significant difference in the detective rate of fetal abnormality among the pregnant women with different prenatal diagnostic indicators, such as the high-risk of down syndrome by different serological screening, the advanced pregnant women, the abnormal thickness of fetal neck transparent(NT), the multiple malformations by ultrasound screening, the adverse pregnancy history, the high-risk of fetal chromosomal abnormalities by noninvasive prenatal test(NIPT) of DNA screening, the abnormal chromosomal abnormalities of the one of the spouse, the pregnancy medication, or the contacting the factor leading to fetal chromosomal malformation(P<0.05). The fetal chromosomal abnormality detection rate of the women with high-risk of chromosomal abnormality by NIPT was the highest(38.2%), followed by that(25.0%) of the women or her spouse with chromosomal abnormality, and then was that (13.8%)of the women with abnormality of their fetal NT.Conclusion:Among the pregnant women who underwent amniocentesis for prenatal diagnosis,the women with the high risk of abnormal chromosome by NIPT,the abnormal chromosome

关 键 词：产前诊断 羊水细胞 核型分析 胎儿染色体异常 筛查 高风险 

分 类 号：R714.5[医药卫生—妇产科学]