目的探讨无创产前检测技术在胎儿染色体非整倍体检测中的应用价值。方法自2013年6月至2015年10月在泰安市妇幼保健院接受外周血中胎儿游离DNA检测的孕妇562例,均为单胎,孕周为14-26+5w,根据类型分为高龄组,高风险组,临界风险组和其他组。检测结果阳性者通过羊膜腔穿刺及羊水细胞培养,并进行染色体核型分析,对结果加以验证。结果对562份标本进行了DNA检测,提示染色体异常13例,其中12例进行了产前诊断,1例未在本院诊断。染色体诊断12例,其中染色体异常7例,正常5例,阳性预测值58.3%(7/12),符合率为99.1%(557/562),假阳性率0.89%(5/562),目前未发现假阴性病例。结论胎儿无创产前检测技术是灵敏度高、对胎儿无创伤的特点,可作为传统的产前诊断技术的有效辅助手段,对于18,21号染色体特异性较高,但对于13号及性染色体的非整倍体检测目前有局限性,假阳性较高,对患者心里负担造成较大影响。 Objective To investigate the value of noninvasive prenatal detection in the detection of fetal aneuploidy. Methods From June 2013 to October 2015 in Tai’an MCH, 562 pregnant women were tested for fetal DNA in peripheral blood, all of whom were singletons and their gestational age was 14-26 + 5 weeks. The patients were divided into advanced age group , High-risk group, critical risk group and other groups. The test results were positive by amniocentesis and amniotic fluid cell culture, and chromosome karyotype analysis of the results to be verified. Results DNA was detected in 562 specimens, which indicated 13 cases of chromosomal abnormalities, of which 12 cases were diagnosed prenatally and 1 case was not diagnosed in our hospital. Chromosome diagnosis in 12 cases, including 7 cases of chromosomal abnormalities, normal in 5 cases, the positive predictive value of 58.3% (7/12), the coincidence rate was 99.1% (557/562), false positive rate of 0.89% (5/562) Found false negative cases. Conclusion Fetal noninvasive prenatal detection is a highly sensitive and noninvasive feature to the fetus. It can be used as an effective adjunct to traditional prenatal diagnostic techniques, with high specificity for chromosomes 18 and 21. However, for fetal and sex chromosomes 13 Aneuploidy detection currently has limitations, false positives higher, the patient’s heart caused a greater impact.