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唐氏综合征(DS)又称21-三体综合征,是新生儿中最常见的染色体疾病。其临床表现典型,主要为智力发育迟缓、特殊面容,生长发育障碍和多发畸形等。寻找一种准确、无创的产前诊断方法取代目前的有创性检查,是人们的追求目标。近年来,无创产前染色体非整倍体检测(noninvasive prenatal testing,NIPT)技术为唐氏综合症的产前诊断带来了突破,并逐渐发展成一种无创产前诊断新途径。与此同时,母血中另外一种游离核酸分子即胎儿游离微小RNA存在,作为另一种新的非侵入性的早期检测手段引起了学者的重视。本文就近年来产前诊断中miRNA应用作一简要综述。
Down Syndrome (DS), also known as 21-trisomy syndrome, is the most common neonatal chromosomal disease. The typical clinical manifestations, mainly mental retardation, special face, growth and development disorders and multiple malformations. Looking for an accurate, non-invasive prenatal diagnostic method to replace the current invasive examination is the pursuit of people’s goals. In recent years, noninvasive prenatal testing (NIPT) has led to a breakthrough in the prenatal diagnosis of Down Syndrome and has gradually developed into a new non-invasive prenatal diagnosis. In the meantime, the presence of another free nucleic acid molecule in maternal blood, fetal free microRNA, has drawn the attention of scholars as another new noninvasive means of early detection. In this paper, miRNAs in prenatal diagnosis in recent years are briefly reviewed.