Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome.
BACKGROUND
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.


METHODS
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.


RESULTS
Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome.


CONCLUSIONS
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.
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Biray
B
Erturk
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Emin
E
Karaca
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Ayca
0000-0002-1460-0053
A
Aykut
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Burak
0000-0002-6971-7996
B
Durmaz
Department of Obstetrics and Gynecology, Aegean Maternity Teaching and Training Hospital, 35110 Izmir, Turkey.
Ahmet
A
Guler
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Baris
B
Buke
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Ahmet Ozgur
AO
Yeniel
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Ahmet Mete
0000-0003-2775-7911
AM
Ergenoglu
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Ferda
F
Ozkinay
Department of Obstetrics and Gynecology, Aegean Maternity Teaching and Training Hospital, 35110 Izmir, Turkey.
Mehmet
M
Ozeren
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Mert
M
Kazandi
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Fuat
F
Akercan
Department of Obstetrics and Gynecology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Sermet
S
Sagol
Faculty of Medicine, Department of Medical Biology, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Cumhur
C
Gunduz
Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.
Ozgur
0000-0002-9037-5599
O
Cogulu
D000328:Adult; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005333:Fetus; D005865:Gestational Age; D006801:Humans; D059785:Karyotype; D008423:Maternal Age; D035683:MicroRNAs / Q000096:biosynthesis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
D035683:MicroRNAs