论文部分内容阅读
目的探讨无创产前基因检测及羊水产前诊断在检测高龄孕妇染色体异常中的应用价值。方法选取2015年2月-2016年6月在我院进行无创产前基因检测的2319例和同期进行羊水穿刺的单活胎高龄孕妇,分别利用高通量测序技术进行测序分析以及羊水细胞学染色体核型分析,NIPT阳性者再进行羊水穿刺染色体核型分析。比较两组间染色体异常检出率的差异。对所有被检测者进行随访。结果 2319例高龄孕妇进行NIPT检测,阳性21例,3例自然流产,羊水确诊诊断10例,检出率0.43%;894例高龄孕妇进行羊水穿刺染色体核型分析,阳性22例,检出率2.46%.两组差异有统计学意义(P>0.05)。结论对于高龄孕妇羊水产前诊断仍然是一种首选的产前诊断方法。
Objective To investigate the value of non-invasive prenatal genetic testing and amniotic fluid prenatal diagnosis in the detection of chromosomal abnormalities in elderly pregnant women. Methods From February 2015 to June 2016 in our hospital for non-invasive prenatal genetic testing of 2319 cases and the same period amniocentesis of single live fetus pregnant women, high-throughput sequencing technology for sequencing analysis and amniocentesis Karyotype analysis, NIPT positive again amniocentesis chromosome karyotype analysis. Differences in detection rates of chromosomal abnormalities between the two groups were compared. All subjects were followed up. Results 2319 pregnant women with NIPT were detected positive in 21 cases, 3 cases of spontaneous abortion, amniotic fluid diagnosis of 10 cases, the detection rate was 0.43%; 894 cases of pregnant women with amniocentesis chromosome karyotype analysis, positive in 22 cases, the detection rate of 2.46 % .The difference between the two groups was statistically significant (P> 0.05). Conclusion Prenatal diagnosis of amniotic fluid in elderly pregnant women is still a preferred method of prenatal diagnosis.