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

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
Pages : 163-166


Background: Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated.
Aims: To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome.
Study Design: Case-control study.
Methods: We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction.
Results: The expression levels of microRNA-125b-2, microRNA-155, and microRNA-3156 were significantly higher in the study group than in the control group.
Conclusion: The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

Keywords : Down syndrome, microRNAs, amniotic fluid
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