471例NIPT阳性孕妇产前诊断结果分析 [中文引用][英文引用]

目的　探讨无创产前基因检测技在产前筛查染色体异常中的应用价值。方法　选取2015年4月至2017年4月因无创产前基因检测（NIPT）结果阳性来本院就诊的471例孕妇，其中11例为双胎妊娠，在知情同意原则下行介入性手术，采集羊水或脐血标本进行产前诊断。结果　①471例NIPT阳性孕妇中，其中21-三体232例，18-三体83例，13-三体45例，性染色体异常77例，其他染色体异常34例；通过胎儿染色体核型分析结果发现21、18、13及性染色体NIPT假阳性率分别为7.3%、25.3%、51.1%和51.9%；其他染色体NIPT假阳性率为91.2%。②81例核型分析正常胎儿进一步染色体微阵列（CMA）检测发现4例存在异常，阳性率4.9%。结论　无创产前基因检测具有较高的检测敏感性和特异性，但由于该技术尚存在一定的假阳性率，因此NIPT提示高风险的孕妇仍需进一步行有创产前诊断来进行确诊。

Objective To investigate the accuracy and applicability of noninvasive prenatal genetic testing for chromosome abnormalities in prenatal screening. Method From April 2015 to April 2017, a total of 471 pregnant women with abmormal NIPT results were recruited in our center . Amniocentesis or cordocentesis were suggested to pregnant women with abmormal NIPT results. Results ①471 cases of pregnant women with abmormal NIPT results, including Trisomy 21 in 232 cases; Trisomy18 in 83 cases; Trisomy 13 in 45 cases; sex chromosome abnormalities in 77 cases; other chromosomal abnormalities in 34 cases, False positive rates of NIPT for trisomy 21/18/13 and sex chromosomal abnormalities were 7.3%、25.3%、51.1%、51.9%,respectively; 91.2% for other chromosomal abnormalities . ②81 cases of fetal with normal karyotype analysis results underwent chromosome microarray analysis (CMA) , and 4 cases of abnormalities detected, the positive rate was 4.9%. Conclusions NIPT has high sensitivity and specificity for screening fetal chromosome abnormalities，however， false positive results mean that amniotic fluid/umbilical cord blood examinations were still needed.