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目的通过对比分析无创基因检测技术和羊水细胞核型分析在产前诊断的应用,探讨无创基因检测胎儿染色体非整倍体异常在临床上的可行性。方法取55例孕妇样本作无创基因检测和羊水细胞核性分析。孕妇特点为高龄、产前筛查高风险和有出生缺陷生育史。结果 55例分析中,羊水核型分析得到21-三体3例,18-三体1例,性染色体异常3例,结构异常2例;无创检测分析常染色体异常与羊水分析一致,吻合率100%。性染色体异常提示有误,结构异常没有提示。结论无创胎儿染色体非整倍体基因检测技术对常染色体非整倍体异常的检出率高,具有无创伤和检测速度快的特点。对性染色检测还需要进一步完善检测技术,提高检出率。
Objective To compare the clinical application of noninvasive gene detection and amniotic fluid cell karyotype analysis in prenatal diagnosis and explore the clinical feasibility of noninvasive gene detection of fetal chromosomal aneuploidy abnormalities. Methods 55 cases of pregnant women samples for non-invasive gene detection and amniotic fluid nuclei analysis. Pregnant women are characterized by advanced age, high risk of prenatal screening and fertility history with birth defects. Results 55 cases of amniotic fluid karyotype analysis showed that 21 cases of trisomy in 3 cases, 18 cases of trisomy in 1 case, 3 cases of chromosomal abnormalities, 2 cases of structural abnormalities; noninvasive detection and analysis of autosomal abnormalities consistent with amniotic fluid analysis, anastomosis rate of 100 %. Sexual chromosomal abnormalities prompted wrong, no abnormalities in structure. Conclusion Noninvasive fetal aneuploidy gene detection has a high detection rate of autosomal aneuploidy, with the characteristics of non-invasiveness and fast detection. On the sex dyeing test also need to further improve the detection technology to improve the detection rate.