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目的探讨无创胎儿染色体非整倍体产前DNA测序临床应用价值。方法采用孕妇外周血生化筛查,高危孕妇进行无创高通量DNA检测,阳性的孕妇采取羊水进行诊断。结果 963例高危孕妇无创筛查发现阳性病例13例,其中98.65%孕妇避免了羊膜腔穿刺。结论胎儿基因检测是采用孕妇血液检测,对胎儿没有创伤并可在孕早期做出诊断,是传统筛查和诊断方法的补充。
Objective To investigate the clinical value of prenatal DNA sequencing of noninvasive fetal chromosome aneuploidy. Methods Peripheral blood biochemical screening of pregnant women, high-risk pregnant women for non-invasive high-throughput DNA testing, positive pregnant women to take amniotic fluid for diagnosis. Results 963 high-risk pregnant women noninvasive screening found positive cases in 13 cases, of which 98.65% of pregnant women to avoid amniocentesis. Conclusions Fetal genetic testing is based on the blood of pregnant women and has no trauma to the fetus and can be diagnosed in the first trimester. It is a supplement to traditional screening and diagnostic methods.