无创胎儿染色体非整倍体基因检测在产前诊断中的临床应用价值分析

Analysis of the clinical value of noninvasive fetal aneuploidy gene detection in prenatal diagnosis

目的分析无创胎儿染色体非整倍体基因检测在产前诊断中的临床应用价值,探讨其临床适用性。方法选择从2015-01—2016-12于某院行产前检查的1 000例血清学产前筛查高风险,血清学筛查临界风险及高龄孕妇患者作为研究组,采用无创胎儿染色体非整倍体基因检测手段进行进一步筛查,对于检查结果阳性的孕妇进行羊水穿刺细胞染色体核型分析;另选择从2015-01—2016-12于某院行羊水细胞染色体核型分析的血清学产前筛查高风险,血清学筛查临界风险及高龄孕妇1 000例作为对照组。观察两组患儿检出率情况。结果研究组500例孕妇中,共有450例孕妇同意进行产前诊断,产前诊断参与率为90.0%(450/500),胎儿染色体非整倍体异常9例,占1.8%(9/500),其中胎儿染色体非整倍体异常检出8例,漏诊1例,检出率为88.9%(8/9);所有孕妇同时采用无创胎儿染色体非整倍体基因检测方法进行筛查,共有8名孕妇检测结果阳性,其中21-三体综合征异常胎儿6例,与羊水穿刺细胞染色体核型分析结果完全一致(100%),18-三体综合征异常胎儿2例,同样与羊水穿刺细胞染色体核型分析结果完全一致(100%)。仅1例无创胎儿染色体非整倍体基因检测阳性高龄产妇拒绝产前诊断,漏诊1例21-三体综合征异常胎儿;无创胎儿染色体非整倍体基因检测方法敏感度为100%(8/8),特异度为99.8%(499/500),假阳性率为0.2%(1/500),假阴性率为0。对照组500例孕妇中,共有440例孕妇同意进行产前诊断,产前诊断参与率为88.0%(440/500);胎儿染色体非整倍体异常9例,占1.8%(9/500),其中胎儿染色体异常诊断结果7例,漏诊2例,检出率为77.8%(7/9)。21-三体综合征异常胎儿6例,18-三体综合征异常胎儿1例。1例高龄产妇拒绝产前诊断,漏诊1例21-三体综合征异常胎儿,1例高龄体外受精-胚胎移植孕妇拒绝产前诊断,漏诊分娩1例21-三体综合征异常胎儿。结论无创胎儿染色体非整倍体基因检测手段的诊断灵敏度高,可以适当降低漏诊率,适合临床应用。

Objective To analyze the clinical value of noninvasive fetal aneuploidy gene detection in prenatal diag- nosis and to explore its clinical applicability.Methods 1 000 cases of prenatal high risk screening, the critical risk of serological screening and pregnant women above the average age for prenatal examination were selected from January 2015 to December 2016 in our hospital as the observation group.The method of non-invasive fetal chromosomal aneu- ploidy gene was used for further screening and Cerotype analysis of amniotic fluid cells were used in pregnant women with positive results.In addition, 1 000 cases of prenatal high risk screening, the critical risk of serological screening and pregnant women above the average age were selected from January 2015 to December 2016 with Cerotype analy- sis of amniotic fluid cells in our hospital as the control group.The detection rate of the two groups was observed. Results 450 out of 500 cases of pregnant women in the observation group accepted prenatal diagnosis and the prena- tal diagnosis participation rate was 90% （450/500）.9 cases were found fetal chromosomal aneuploidy abnormal, ac- counting for 1.8%（9/500） ,Among them, there were 8 cases of fetal chromosome aneuploidy abnormality and 1 cases was missed diagnosized,and the participation rate was 88.9%（8/9）.Ali pregnant women were used noninvasive fetal chromosomal, aneuploidy detection method of gene screening, and a total of 8 pregnant women were tested positive, including 6 cases of tiresome 21-syndrome fetal abnormalities, consistent with chromosome cerotype analysis results of amniotic fluid puncture（100%）,2 cases of tiresome 18- syndrome fetal abnormalities,consistent with chromosome cerotype amniocentesis results（100%）.Only 1 pregnant woman above the average age with non- invasive fetal chromo- somal aneuploidy gene detection positive refused prenatal diagnosis, and 1 case of tiresome 21-abnormal fetus was missed diagnosed.The sensitivity of the detection method of non-invasive fetal aneuploidy gene was 100%（8/8） and the specificity was 99.8%（499/500）.The false positive rate was 0.2%（1/500） and the false negative rate was about 0.440 out of 500 pregnant women in the control group, accepted prenatal diagnosis, and the participation rate of pre- natal diagnosis was 88% （440/500）.9 cases was found fetal chromosomal aneuploidy abnormal, accounting for 1.8% （9/500）, Among them, 7 cases were diagnosed as fetal chromosome abnormality, and 1 patient was missed in the diag- nosis of the disease.The detection rate was 77.8%（7/9）.6 cases of tiresome 21-abnormal fetus and 1 case of 18- tire- some syndrome abnormal fetus were detected. 1 case of pregnant woman above average age refused prenatal diagnosis, 1 case of 21- tiresome syndrome abnormal fetus was missed in the diagnosis. 1 case of pregnant woman above the av- erage age undergoing in vitro fertilization and embryo transfer refused prenatal diagnosis and 1 case of 21- tiresome syndrome was missed and delivered.Conclusion With high diagnostic sensitivity, noninvasive fetal aneuploidy gene detection method can reduce the rate of missed diagnosis, and is suitable for clinical application.