【摘要】 目的:探讨无创产前检测(NIPT)在产前筛查染色体异常中的应用价值。方法:以胎儿染色体核型为金标准,对笔者所在医院2015年1月1日-2018年12月31日收治的392例NIPT高风险孕妇通过介入手术采集羊水或脐带血标本,进行产前诊断结果分析。结果:392例孕妇中,NIPT提示21-三体高风险127例,18-三体高风险45例,13-三体高风险23例,性染色体数目增多55例,数目减少48例,性染色体异常10例,其他染色体数目异常24例,结构异常60例。经染色体核型分析证实,其阳性预测值分别为91.34%、55.56%、34.78%、81.82%、27.08%、20.00%、12.50%、15.00%。结论:NIPT作为一种安全快速的产前筛查技术,能有效筛查出正常孕妇人群中的高危人群,但存在一定的假阳性,对NIPT提示高风险的孕妇仍需要胎儿染色体核型分析进行验证。更多还原

【Abstract】 Objective:To explore the application value of noninvasive prenatal testing (NIPT) in prenatal screening for chromosomal abnormalities.Method:With fetal chromosome karyotype as the standard,392 high-risk NIPT pregnant women admitted to our hospital from January 1,2015 to December 31,2018 were collected through interventional surgery for amniotic fluid or umbilical cord blood samples,and the results of prenatal diagnosis were analyzed.Result:Among 392 pregnant women,NIPT showed there were trisomy 21 high risk in 127 cases,trisomy 18 high risk in 45 cases,trisomy 13 high risk in 23 cases,the number of sex chromosomes increased in 55 cases,decreased in 48 cases,sex chromosome abnormality in 10 cases,other chromosome number abnormalities in 24 cases,structural abnormalities in 60 cases.The positive predictive values were 91.34%,55.56%,34.78%,81.82%,27.08%,20.00%,12.50%,15.00% by karyotype analysis,respectively.Conclusion:As a safe and rapid prenatal screening technology,NIPT can effectively screen out high-risk groups in normal pregnant women,but there are some false positives,and fetal karyotype analysis is still needed for verification of NIPT indicating high-risk pregnant women.更多还原