孕妇产前诊断指征与胎儿染色体异常的关系  

The relationship between prenatal diagnostic indication of pregnant women and fetal chromosomal abnormalities

作　　者：钟文富 曾灏[1] 杨元伍 甘冰[1] 梁萍[1] 黄圣斌[1] ZHONG Wen-fu;ZENG Hao;YANG Yuan-wu;GAN Bing;LIANG Ping;HUANG Sheng-bin(Department of Laboratory,Guigang People′s Hospital,Guigang Guangxi 537100)

机构地区：[1]贵港市人民医院检验科,广西贵港537100

出　　处：《中国优生与遗传杂志》2020年第1期43-45,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西科技计划项目(编号:桂科AD17195042)。

摘　　要：目的探讨产前诊断指征和产前诊断胎儿染色体异常间的关系。方法选择2018年6月至2018年12月于贵港市人民医院就诊的孕妇100例,收集所有孕妇产前诊断指征的资料,同时收集羊膜腔穿刺术检测胎儿染色体核型分析的结果。结果胎儿染色体异常共9例,总异常率占9.00%,其中无创基因检测异常组的胎儿染色体异常检出率为60.00%,明显高于高龄组的3.03%、唐氏筛查高危组的5.26%及胎儿超声异常组的7.69%,差异均有统计学意义(P<0.05);夫妇染色体异常组的胎儿染色体异常检出率为50.00%,明显高于高龄组,差异均有统计学意义(P<0.05);高龄组、唐氏筛查高危组、胎儿超声异常组间异常检出率无明显差异(P>0.05)。结论产前诊断指征与胎儿染色体异常密切相关,羊膜腔穿刺行染色体核型分析,能够有效检出胎儿染色体异常,对于有产前诊断指征的孕妇应尽早接受产前诊断,以降低新生儿出生缺陷的发生率。Objective:To explore the relationship between prenatal diagnosis indication and prenatal diagnosis of fetal chromosomal abnormalities.Methods:100 cases of pregnant women admitted in Guigang People′s Hospital from June 2018 to December 2018 were selected.All prenatal diagnostic indication of pregnant women was collected.Meanwhile,the result of chromosome karyotype analysis by amniocentesis was collected.Results:There were 9 cases of fetal chromosomal abnormalities,the total abnormality rate was 9.00%.Among them,the detection rate of fetal chromosome abnormalities in non-invasive gene detection abnormality group was 60.00%,which was significantly higher than that in the elderly group(3.03%),Down’s screening high-risk group(5.26%)and fetal ultrasound abnormality group(7.69%)(P<0.05).The detection rate of fetal chromosomal abnormalities in couples with chromosomal abnormalities was 50.00%,which was significantly higher than that in the elderly group(P<0.05).There was no significant difference in the detection rate of abnormalities among the elderly group,Down′s screening high-risk group and fetal ultrasound abnormality group(P>0.05).Conclusion:Prenatal diagnostic indication is closely related to fetal chromosomal abnormalities.Chromosome karyotype analysis by amniocentesis can effectively detect fetal chromosome abnormalities.Prenatal diagnosis should be accepted as early as possible for pregnant women with indications of prenatal diagnosis in order to reduce the incidence of neonatal birth defects.

关 键 词：产前诊断指征 羊膜腔穿刺 染色体核型分析 胎儿染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]