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目的分析非整倍体无创DNA产前检测在胎儿染色体疾病中的应用及价值。方法收集2016年1月-2016年9月在我院进行胎儿无创DNA产前检测的7486例孕妇(孕周12-26w)外周血标本并提取胎儿游离DNA,对阳性结果在孕妇知情同意的情况下做羊水或者脐血穿刺进行核型分析确诊,并对两者结果不一致的孕妇进行电话随访。结果无创DNA产前检测显示共52例胎儿染色体异常,结合羊水/脐血穿刺结果无创DNA产前检测胎儿染色体21-三体综合征准确率为93%(27/29),18-三体综合征准确率86%(6/7),13-三体综合征0%(0/3)性染色体异常38%(5/13),其灵敏度为100%,阴性预测值为100%,特异性为99.81%。结论无创DNA产前检测针对胎儿21-、18-三体综合征符合率较高,具有简单、安全、可靠等优点。对13-三体综合征及性染色体异常的检测符合率较低,还需要进一步提高现有检测技术。
Objective To analyze the value and application of aneuploid DNA prenatal testing in fetal chromosomal diseases. Methods Peripheral blood samples from 7486 pregnant women (gestational weeks 12-26w) who underwent fetal non-invasive DNA prenatal tests in our hospital from January 2016 to September 2016 were collected and fetus free DNA was extracted. The positive results were obtained in the informed consent of pregnant women Amniotic fluid or umbilical cord puncture under the karyotype analysis confirmed, and the results of the two inconsistent pregnant women telephone follow-up. Results Prenatal noninvasive DNA testing showed a total of 52 cases of fetal chromosomal abnormalities combined with amniotic fluid / cord blood results of non-invasive DNA prenatal detection of fetal chromosomal trisomy 21 accuracy of 93% (27/29), 18-trisomy synthesis The accuracy rate was 86% (6/7), 0% (0/3) of 13-trisomy syndrome 38% (5/13), the sensitivity was 100%, the negative predictive value was 100%, specificity Is 99.81%. Conclusion Noninvasive DNA prenatal detection of fetal 21-, 18-trisomy syndrome with a high coincidence rate, with simple, safe, reliable and so on. The detection of 13-trisomy syndrome and sex chromosome abnormalities with a low compliance rate, but also need to further improve the existing detection techniques.