摘要
目的:探讨产前无创基因检测(NIPT)在胎儿性染色体非整倍体疾病(SCAs)筛查中的应用价值。方法:选取2018年1月至2019年12月在温州市中心医院行NIPT普通三项或NIPT PLUS的单活胎孕妇27116例为研究对象,其中NIPT普通三项有15218例,NIPT PLUS有11948例。利用高通量基因组测序平台及生物信息分析技术,对孕妇外周血中胎儿游离DNA进行深度测序,获取胎儿染色体信息。对检测结果高风险者进行遗传咨询,知情同意后行羊膜腔穿刺及羊水染色体核型分析。结果:NIPT普通三项共检测出SCAs 125例,阳性率为0.82%(125/15218),70例经羊水产前诊断证实阳性17例,阳性预测值24.29%(17/70)。NIPT PLUS共检测出SCAs 97例,阳性率为0.81%(97/11948),70例经羊水产前诊断证实阳性29例,阳性预测值41.43%(29/70)。结论:NIPT可作为胎儿SCAs的筛查方法,具有较高的临床应用价值。与NIPT普通三项相比,NIPT PLUS显著提高胎儿SCAs的检测效能。对于NIPT或NIPT PLUS结果高风险者必须进行侵入性产前诊断,对于结果低风险者应警惕漏诊可能。
Objective:To investigate the application value of non-invasive prenatal testing(NIPT)in the screening of fetal sex chromosome aneuploidies(SCAs).Methods:A total of 27116 singleton pregnant women who underwent usual NIPT(15218)or NIPT PLUS(11948)in Wenzhou Central Hospital from 2018 to 2019 were collected.The fetal free DNA from maternal plasma was extracted and was sequenced by high-throughput sequencing.For those with high risk of SCAs,invasive karyotype detection was performed after genetic counseling.Results:The results of usual NIPT showed that there were 125 cases of SCAs with a positive rate was 0.82%(125/15218).Prenatal diagnosis of amniotic fluid confirmed positive in 17 cases out of 70,with the positive predictive value being 24.29%(17/70).The results of NIPT PLUS showed that there were 97 cases of SCAs with a positive rate was 0.81%(97/11948),and 29 of 70 cases were confirmed positive by prenatal diagnosis of amniotic fluid,with the positive predictive value being 41.43%(29/70).Conclusion:With high clinical application value,NIPT can be used as a prenatal screening method for SCAs.Compared with usual NIPT,NIPT PLUS can significantly improve the prenatal screening efficiency for SCAs.Invasive prenatal diagnosis must be performed for pregnant women with NIPT or NIPT PLUS showing high SCAs risk,while patients with low risk should be alert to the possibility of missed diagnosis.
作者
徐云芝
徐雪琴
唐少华
周丽丽
李焕铮
XU Yunzhi;XU Xueqin;TANG Shaohua;ZHOU Lili;LI Huanzheng(Prenatal Diagnosis Center,Wenzhou Central Hospital,Wenzhou 325000,China)
出处
《温州医科大学学报》
2022年第4期294-299,共6页
Journal of Wenzhou Medical University
基金
温州市基础性科研项目(Y20190463)
温州市精准医疗检测重点实验室(2021HZSY0065)。
