无创DNA检测技术在产前胎儿非整倍体筛查中的应用

Application on Prenatal Screening for Fetal Aneuploid by Noninvasive DNA Detection

目的:探讨无创DNA检测技术在孕妇产前临床检测中的应用。方法:对276例孕妇进行胎儿无创DNA产前检测,包括高龄(年龄≥35岁)、唐筛结果为高风险或单项指标异常、超声软指标异常者。结果:276例中,267例检测为低风险,9例检测为高风险。高风险包括5例提示21-三体综合征、2例提示18-三体综合征、1例提示13-三体综合征、1例提示胎儿性染色体DNA含量不足。9例异常者经羊水和脐血穿刺检测证实与无创DNA结果吻合,准确率为100%。结论:无创DNA产前检测针对胎儿21-、18-、13-三体综合征筛查,具有简单安全、可靠等优点,较血清学筛查有着无可比拟的优越性。这项技术大大减少了有创产前诊断人数,将作为一种筛查技术大规模应用于临床,是未来发展的趋势。

Objective： To explore the clinical application on pregnant fetal by noninvasive DNA detection. Methods： 276 cases pregnant women were detected by noninvasive DNA, who were elder（age≥35）, Down＇s syndromescreening results of high risk or abnormal single index or abnormal ultrasonic soft indexes. Results： In 276 cases,267 cases had low risk, 9 cases had high risk. Among them, 5 cases suggested trisomy 21, 2 cases suggested tri-somy 18, 1 case suggested trisomy 13, and 1 case suggested that the content of fetal sex chromosome DNA wasinsufficient. 9 high risk cases which did amniotic fluid and umbilical cord blood puncture confirmed the results de-tected by noninvasive DNA detection, the accuracy rate was 100%. Conclusion： Noninvasive DNA prenatal detec-tion of fetal on trisomy 21, 18, 13 syndrome screening, has the advantages of simple operation, safety and reliabili-ty, and there is an unparalleled superiority to serological screening. The technology reduces the number of inva-sive prenatal diagnosis greatly, and will be used as a screening technique to clinical application on a large scale,it is a development trend in the future.