ISSN : 2146-3123
E-ISSN : 2146-3131

Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome
Emin Karaca1, Ayça Aykut1, Biray Ertürk1, Burak Durmaz1, Ahmet Güler3, Barış Büke2, Ahmet Özgür Yeniel2, Ahmet Mete Ergenoğlu2, Ferda Özkınay1, Mehmet Özeren3, Mert Kazandı2, Fuat Akercan2, Sermet Sağol2, Cumhur Gündüz4, Özgür Çoğulu1
1Department of Medical Genetics, Ege University School of Medicine, İzmir, Turkey
2Department of Obstetrics and Gynecology, Ege University School of Medicine, İzmir, Turkey
3Clinic of Obstetrics and Gynecology, İzmir Ege Maternity and Women's Diseases Training Research Hospital, İzmir, Turkey
4Department of Medical Biology, Ege University School of Medicine, İzmir, Turkey
DOI : 10.4274/balkanmedj.2017.0511

Background: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid

analysis of prenatal samples with Down syndrome.

Aims: We evaluated the expression levels of 14 miRNAs, located on chromosome 21 in prenatal samples and their utility for prenatal testing of Down syndrome.

Study Design: Case-control study.

Methods: A total of 56 patients who underwent invasive prenatal testing, 23 carrying fetuses with DS; 33 control cases carrying fetuses with normal karyotype, were included. Indications for invasive prenatal testing were advanced maternal age and increased risk of Down syndrome in screening tests. Gestation weeks ranged between 17-18 in study and control groups. MicroRNA expression levels were measured by real-time–polymerase chain reaction.

Results: miR-125b-2, miR-155 and miR-3156 expression levels were significantly higher in prenatal samples.

Conclusion: Significantly dysregulated miRNAs either may be associated with the phenotype or may be the result of abnormal development. Further large scale comparative studies carried out in a variety of conditions may bring novel insights in the field of abnormal conditions.

Keywords : Down syndrome, microRNAs, amniotic fluid
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