产前诊断中胎儿染色体非整倍体无创检测的临床应用  

Clinical application of noninvasive detection of fetal chromosome aneuploidy in prenatal diagnosis

作　　者：魏顺娣[1] 谢润桂[1] 何晓旋 Wei Shundi;Xie Rungui;He Xiaoxuan(Prenatal laboratory centre,Dongguan maternal and child health care hospital,Dongguan Guangdong,523003,China)

机构地区：[1]东莞市妇幼保健院产前诊断中心,523000

出　　处：《齐齐哈尔医学院学报》2022年第22期2151-2153,共3页Journal of Qiqihar Medical University

摘　　要：目的 探讨产前诊断中胎儿染色体非整倍体无创检测的临床应用效果。方法 选择2018年10月—2019年3月本院收治并进行检查的孕妇500例为研究对象,均为单胎、首次妊娠,对孕妇实施染色体非整倍体无创检测,观察染色体非整倍体无创检测用于产前胎儿诊断的准确性。结果 在500例进行无创性产前基因检测的孕妇中发现8例为高风险,检测阳性率为1.60%,通过对8例孕妇进行羊水穿刺检验发现,产前诊断中胎儿染色体非整倍体无创检测准确率为100%,与羊水穿刺结果相比无明显差异(P>0.05)。结论 无创产前基因检测对胎儿染色体非整倍体疾病诊断具有良好准确性,临床用于胎儿排畸筛查有重大意义,能有效减少畸形胎儿出生。Objective To investigate the clinical application effect of non-invasive detection of fetal chromosome aneuploidy in prenatal diagnosis.Methods A total of 500 pregnant women who were admitted and examined in our hospital from October 2018 to March 2019 were selected as the research objects.All of them were single fetuses and their first pregnancy.Noninvasive testing for chromosomal aneuploidy was carried out among the pregnant women, to evaluate the accuracy of non-invasive detection of chromosomal aneuploidy in prenatal diagnosis.Results Among the 500 cases of pregnant women who underwent non-invasive prenatal genetic testing, 8 cases were found to be high risk, and the positive rate was 1.60%.The 8 cases of pregnant women underwent amniocentesis, and the results indicated that that the accuracy of non-invasive detection in prenatal diagnosis of fetal chromosome aneuploidy was 100%,and there was no significant difference compared with amniocentesis(P>0.05).Conclusions Non-invasive prenatal genetic testing has a good accuracy in the diagnosis of fetal chromosomal aneuploidy, and has great significance in the clinical application of fetal malformation screening, which may effectively reduce the birth of abnormal fetuses.

关 键 词：无创 基因检测 染色体非整倍体 产前 应用价值 

分 类 号：R714.55[医药卫生—妇产科学]