荧光原位杂交技术在产前诊断染色体嵌合体中的作用分析

Analysis of the Role of Fluorescence in Situ Hybridization in Prenatal Diagnosis of Chromosome Chimera

目的 探究将荧光原色杂交技术应用于产前诊断染色体嵌合体中的效果,分析其临床应用价值。方法 将2018年9月至2020年2月作为研究时段,在该时段选取我院收治的600例存在产前诊断指征的产妇进行羊膜穿刺术,获得其羊水细胞后,分别对其进行染色体异常诊断。分别选择染色体核型分析以及荧光原位杂交技术(FISH)检测,分析其中存在的染色体异常状况。结果 在本次研究完成后,对所有患者进行染色体核型分析,共计存在71例染色体异常,染色体异常率为11.83%,其中染色体非整倍体例数为58例(81.69%),存在4例漏诊情况;FISH诊断中确诊染色体异常67例,染色体异常率为11.17%,其中染色体非整倍体例数67例(100.00%),其中8例嵌合体异常完全确认,无漏诊情况,最终两种诊断结果比较,无显著性差异(χ^(2)=0.1310,P=0.7173)。结论 染色体核型分析能够完全确认染色体数目和结构异常,而FISH在产前诊断中的效率和成功率较高,但单独应用FISH,可能会出现小概率的误诊情况,故而在临床上尽可能选择两种诊断方式联合应用的方案,这样才能使产前诊断发挥最大化的诊断效能。

Objective To explore the effect of fluorescent primary hybridization in prenatal diagnosis of chromosomal mosaicism and analyze its clinical value.Methods During the study period from September 2018 to February 2020,600 women with indications of prenatal diagnosis were enrolled in our hospital,and all of them underwent amniocentesis.After the amniotic fluid cells were obtained,chromosomal abnormalities were diagnosed in 600 maternal women,and chromosomal karyotype analysis and fluorescence in situ hybridization(FISH) were selected to detect the chromosomal abnormalities.Results After the completion of this study,chromosome karyotyping was performed on all patients,and a total of 71 cases of chromosomal abnormalities were present,with a chromosomal abnormality rate of 11.83%,of which 58 cases(81.69%) were aneuploidy cases,and 4 cases were missed.In FISH diagnosis,67 cases of chromosomal abnormalities were diagnosed,and the chromosomal abnormality rate was 11.17%,of which 67 cases(100.00%) were aneuploidies,of which 8 cases of chimeric abnormalities were completely confirmed,and there was no missed diagnosis,and the final diagnosis results of the two diagnoses were compared without significant difference(χ^(2)=0.1310,P=0.7173).Conclusion The chromosome karyotype analysis can completely confirm the chromosome number and structure abnormality,while the efficiency and success rate of FISH in prenatal diagnosis are high,but the application of FISH alone may lead to a small probability of misdiagnosis.Therefore,in clinical practice,we should choose the scheme of joint application of two diagnostic methods,so that the prenatal diagnosis can play a role maximize diagnostic performance.