Erturk Biray, Karaca Emin, Aykut Ayca, Durmaz Burak, Guler Ahmet, Buke Baris, Yeniel Ahmet Ozgur, Ergenoglu Ahmet Mete, Ozkinay Ferda, Ozeren Mehmet, Kazandi Mert, Akercan Fuat, Sagol Sermet, Gunduz Cumhur, Cogulu Ozgur
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Department of Obstetrics and Gynecology, Aegean Maternity Teaching and Training Hospital, 35110 Izmir, Turkey.
Biomed Res Int. 2016;2016:5312674. doi: 10.1155/2016/5312674. Epub 2016 Mar 24.
Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome.
A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR.
Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome.
Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.
目前，关于微小RNA（miRNA）在无创产前检测中的应用，文献中的可用数据并不充分。我们评估了位于21号染色体上的14种miRNA在孕妇血浆中的表达水平及其在唐氏综合征无创产前检测中的应用。
共有56例患者接受了侵入性产前检测；其中23例携带唐氏综合征胎儿，33例作为对照，携带核型正常的未受影响胎儿，用于比较。侵入性产前检测的指征包括孕妇年龄较大、筛查试验中唐氏综合征风险增加以及超声检查发现异常。在研究组和对照组中，所有孕妇均处于妊娠第17和18周。使用实时逆转录聚合酶链反应（RT-PCR）测量miRNA表达水平。
在携带唐氏综合征胎儿的女性中，发现孕妇血浆中miR-3156和miR-99a水平显著升高。
我们的结果为更大样本量和微小RNA谱的多中心研究提供了基础，特别是对于在我们的研究中发现表达存在差异的微小RNA。通过这项临床研究，未来的研究可以更好地探索微小RNA在无创产前检测中的应用。
