无创DNA筛查胎儿性染色体高风险与FISH法孕妇外周血检测的临床意义  

The clinical application of non-invasive prenatal testing of sex chromosomal high risk and FISH detection of maternal blood

作　　者：郭媛媛 郝胜菊[1] GUO Yuan-yuan;HAO Sheng-ju(Medical Genetics Center,Gansu Maternity and Child health Care Hospital,Lanzhou 730050)

机构地区：[1]甘肃省妇幼保健院医学遗传中心

出　　处：《中国优生与遗传杂志》2019年第10期1182-1182,1185,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过外周血和羊水FISH法对无创DNA筛查胎儿性染色体高风险的孕妇进行检测,探讨胎儿性染色体与母血性染色体异常关系的临床意义。方法对无创DNA筛查出性染色体高风险的孕妇抽取静脉血2-3ml于枸橼酸钠抗凝管并抽取10ml羊水行荧光原位杂交检测。结果68例无创DNA筛查胎儿性染色体高风险的孕妇行外周血FISH检测后,其中8例孕妇性染色体异常并且其胎儿性染色正常。结论母血性染色体异常与无创DNA性染色体高风险假阳性率关系紧密,值得临床医师重视。Objective:To determine the clinical value of non-invasive prenatal test(NIPT)of sex chromosomal high risk and maternal blood Fluorescence in situ hybridization(FISH)of detection.Methods:Using maternal blood and amniotic fluid do the FISH detection that are non-invasive prenatal test(NIPT)of sex chromosomal high risk.Result:68 cases which is highrisk of sex abnormal chromosome were tested by FISH and there are 8 cases of sex abnormal chromosome from motherd and there fetus is nomol.Conclusion:Maternal blood of sex abnormal chromosome has closely relationship with non-invasive prenatal test(NIPT)of sex chromosomal high risk.

关 键 词：无创DNA检测 FISH技术 性染色体高风险 

分 类 号：R596.1[医药卫生—内科学]