孕妇血胎儿无创DNA产前检测的临床应用探讨  

To explore the clinical application of Gen DNA non pregnant women prenatal detection of fetal blood

作　　者：熊敏 孙辉 王淑媛 

机构地区：[1]湖南省湘潭市妇幼保健院优生遗传科,411104

出　　处：《中国优生与遗传杂志》2015年第4期46-46,48,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕妇血胎儿无创DNA产前检测的临床应用。方法针对473例高龄(年龄≥35岁)、唐筛结果为高风险或单项指标异常、超声软指标异常等孕妇,知情选择胎儿无创DNA产前检测。结果 473例孕妇外周血中,467例正常,6例异常。其中5例提示21三体综合征,羊水和脐血染色体结果证实异常,符合率为100%。1例提示胎儿性染色体DNA含量不足,羊水染色体结果证实正常,不符合。结论无创DNA产前检测针对胎儿21三体综合征筛查,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,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 of noninvasive blood of pregnant woman fetal DNA for prenatal detection. Methods：473 Cases of elderly patients（age more than 35 years old）,Tang screening results for high risk or single index anomaly,ultrasonic soft indexes of abnormal pregnant women,informed choice of non-invasive prenatal detection of fetal DNA. Results：473 Cases of peripheral blood of pregnant women,467 cases of normal,6 cases of abnormal. Among them 5cases suggest that trisomy 21,amniotic fluid and umbilical cord blood chromosome results confirm abnormal,the coincidence rate was 100%. 1 cases of fetus sex chromosome DNA content is insufficient,amniocentesis results confirm normal,do not meet. Conclusion：noninvasive prenatal DNA for the detection of fetal trisomy 21 syndrome screening,has the advantages of simple operation,safety and reliability,a serological screening unparalleled superiority,greatly reducing the number of invasive prenatal diagnosis,will be used as a screening technique for large scale for clinical application,is the future development trend.

关 键 词：无创DNA产前检测 染色体非整倍体 21三体综合征 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]