摘要
目的:分析并研究血浆游离DNA高通量测序技术对产前出生缺陷的临床诊断价值。方法:选取本院2016年5月至2017年4月收治的120例孕妇为研究对象,给予拒绝羊膜腔穿刺的高风险孕妇产前无创DNA测序检测方式,对母血浆胎儿游离DNA高通量测序结果进行分析,并对其产前诊断体系的作用进行评价。结果:所选的120例孕妇中,有7例孕妇存在高风险,其阳性检查率为5.8%。在7例孕妇中,有3例孕妇分析了羊水染色体核型,羊水穿刺率达到42.8%。其中包括18三体和21三体各1人;在120例患者中,接受血浆浆游离DNA高通量测序的孕妇有12例,经过诊断之后,有2例被确诊为羊水染色体合并21三体阳性,3例患者被确诊为羊水合并性染色体阳性,无创性染色体异常且拒绝诊断的有2例,无创性染色体假阳性孕妇1例。结论:将血浆游离DNA高通量测序技术应用于预防出生缺陷中,能够有效降低出生缺陷的几率,具有良好的发展前景。
Objective:To analyze and study the clinical diagnostic value of plasma free DNA high-throughput sequencing technology for prenatal birth defects.Methods:120 cases of pregnant women in our hospital from May 2016 to April 2017 were selected as the research object.The high-risk prenatal noninvasive DNA sequencing of high-risk pregnant women who refused to amniocentesis was analyzed.The results of high-throughput sequencing of fetal plasma free DNA were analyzed,And the role of its prenatal diagnosis system was evaluated.Results:Of the 120 pregnant women selected,7 had high risk for pregnant women,with a positive rate of 5.8%.In 7 cases of pregnant women,3 cases of pregnant women analyzed amniotic chromosome karyotype,amniotic fluid puncture rate of 42.8%.Including 18 trisomy and 21 trisomy 1;in 120 patients,received plasma plasma free high-throughput sequencing of 12 pregnant women,after diagnosis,2 cases were diagnosed with amniotic fluid chromosome 21 Three cases were positive,3 patients were diagnosed with amniotic fluid chromosome positive,noninvasive chromosomal abnormalities and refused to diagnose 2 cases,noninvasive chromosome false positive pregnant women 1 case.Conclusion:The application of plasma free DNA high-throughput sequencing technology in the prevention of birth defects can effectively reduce the risk of birth defects and have good prospects for development.
出处
《中外女性健康研究》
2017年第24期173-174,共2页
Women＇s Health Research
关键词
出生缺陷
产前诊断
血浆游离DNA高通量测序技术
Birth defects
Prenatal diagnosis
Plasma free DNA high throughput sequencing technology
