无创产前基因检测胎儿染色体非整倍体的临床研究

目的探讨无创性产前基因检测胎儿染色体非整倍体在临床的应用。 方法选择2015年1～12月在我院产科门诊就诊的孕妇920例，先行无创产前基因检测（实验组），对于无创产前基因检测高风险和中等风险者再行羊水或脐血穿刺染色体核型分析（对照组）。两组检测结果为阴性的孕妇，出生后进行随访,确定是否有无漏诊。通过两组阳性结果的比较及出生后的观察随访情况来衡量无创产前基因检测的检查胎儿非整倍体疾病的准确率,再来判断其临床应用价值。 结果实施无创产前基因检查920例,阳性结果为5例，其中21三体综合征为3例，18三体综合征为1例，13三体综合征为1例，阴性为915例；阳性结果以羊水或脐血穿刺染色体核型分析的结果为金标准进行结果对照，21 三体综合征有1 例假阳性，18 三体综合征与13 三体综合征无假阳性。检查结果阴性的孕妇，经产后随访无漏诊率。结论无创产前胎儿非整倍体基因检测可提高产前诊断效率，减少患儿的出生。该项技术具有最佳检测时间、无创取样、无流产风险、高灵敏度及准确度的特点，更适宜基层医院开展。 

Clinical application of non-invasive prenatal gene detection for fetal chromosomal aneuploid

Objective To investigate the clinical application of non-invasive prenatal gene detection for fetal chromosomalaneuploidy. Methods We recruited 920 pregnant women who visited the Obstetrics Department of our hospital from January 2015 to December 2015. The experimental group were consisted of who received non-invasive prenatal gene detection. The control group were consisted of those who are determined as high-risk and medium-risk pregnant woman by non-invasive prenatal gene detection and received chromosome karyotype analysis of amniotic fluid and umbilical cord blood. Pregnant women whose test results were both negative were followed up after giving birth, in order to determine whether there is missed diagnosis. The Diagnostic accuracy and clinical application value of non-invasive prenatal gene detection for fetal chromosomal aneuploidy is determined by comparison of positive results in both group and the follow-up after birth. ResultsA total of 920 cases received non-invasive prenatal gene detection, 5 positive results(3 cases of trisomy 21 syndrome, 1 case of trisomy 18 syndrome, 1 case of trisomy 13 syndrome) and 915 negative results. The results of chromosome karyotype analysis of amniotic fluid and umbilical cord blood as gold standard, comparison study were carried out. There was a false positive in trisomy 21 syndrome and no false positive in trisomy 18 syndrome and trisomy 13 syndrome. Follow-up study showed no missed diagnosis for negative results. Conclusion Non-invasive prenatal gene detection for fetal chromosomal aneuploid can improve the efficiency of prenatal diagnosis and reduce the birth of defective baby. The technology has characteristics of best detection time, non-invasive sampling, no abortion risk, high sensitivity and accuracy, which are more suitable for primary hospital.