摘要
目的:探讨无创DNA检测技术(NIPT)对胎儿染色体非整倍体异常的筛查效果.方法:收集2020年1月到2022年10月在临沂市中心医院进行NIPT检测的孕妇临床资料与实验数据.对筛查出的NIPT高风险孕妇进行遗传咨询,建议介入性产前诊断.统计分析NIPT检测出的各染色体非整倍体异常的阳性预测值(PPV).对孕妇根据NIPT指征分为高龄组、超声异常组、血清学筛查临界风险组、血清学筛查高风险组、多指标组、自愿检测组.分析各组的NIPT高风险检出率及阳性预测值.结果:在进行NIPT检测的15822名孕妇中,共检
Abstract
Objective To investigate the screening effect of non-invasive DNA testing (NIPT) on fetal chromosome abnormality. Methods:From January 2020 to October 2022, 15822 non-invasive prenatal testing results and clinical date were collected in Linyi Central Hospital. Genetic counseling and interventional prenatal diagnosis were carried out for pregnant women whose test result is high risk of NIPT to diagnosis of disease. The positive predictive value (PPV) of chromosome abnormality detected by NIPT was analyzed. According to NIPT indications pregnant women were divided into elderly group, abnormal ultrasound group, critical risk group for serological screening, high risk group for serological screening, multiple indicators group and voluntary testing group. Analyze the high risk detection rate and positive predictive value of NIPT in each group. Results:Of the 15822 NIPT screening results, 178 cases were reported as high risk of chromosome abnormality. And 144 cases underwent amniocentesis for karyotype and chromosome microarray analysis. The positive predictive value (PPV) of trisomy 21, trisomy 18, trisomy13, sex chromosome aneuploidy were 82.81％、60％、50％、44.26％.The PPV of elderly group, abnormal ultrasound group, critical risk group for serological screening, high risk group for serological screening, multiple indicators group and voluntary testing group were 58.62％、68.00％、54.17％、68.18％、71.43％、44.44％. Conclusion:The positive predictive value of NIPT in different populations is similar, but in different chromosome abnormality varies greatly. The PPV of trisomy 21 is highest. The prenatal screening method, NIPT, has the advantages of high accuracy, but it also has limitations. Pregnant women with high risk of NIPT should undergo amniocentesis for prenatal diagnosis.
万方数据