Çitli, Senol Cumhuriyet Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Köksal, Binnur Cumhuriyet Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Kurtulgan, Hande Küçük Cumhuriyet Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Akkuş, Nejmiye Cumhuriyet Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Özdemir, Öztürk Onsekiz Mart Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey , Sezgin, İlhan Cumhuriyet Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Turkey

Detection of common chromosome aneuploidies at the prenatal period by multiplex quantitative fluorescent PCR (QF-PCR) technique: The experience of pilot study in Cumhuriyet University of School of Medicine

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Aim. Quantitative fluorescent polymerase chain reaction (QF-PCR) is a method that helps rapid detection of chromosome 13, 18, 21, X and Y which are the major cause of numerical aneuploidies in human using specific short tandem repeats (STR). In the current study, STR analysis, with using QF-PCR technique, was done in fetal chromosomes of pregnancies which was accepted as risky in terms of triple test positivity and other reasons and the value of the method in prenatal diagnosis. Method. A total of 300 risky fetus were analysed, fetal amniotic fluid (15 mL) was used for all analyses. For this purpose, fetal amniotic fluids, which were referred by Cumhuriyet University School of Medicine, Department of Obstetrics and Gynecology, were subjected to karyotyping by cell culture in RPM1640 culture medium and of-PCR STR analysis. Total genomic DNA samples extracted from fetal amniotic fluid cells (1-1.5 mL) were used for STR analysis. Fetal DNAs were amplified and then genotyped using appropriate primers belonging to chromosomes 13, 18, 21, X and Y in terms of 17 STR region. Results. It was determined that the pregnant women whose amniotic fluids were sent for analysis, were between 16-week and 20-week of pregnancies, and the most important etiologic reason was advanced mother age. A trisomy 13 (Patau syndrome), a trisomy 18 (Edwards Syndrome) and 5 trisomy 21 (Down syndrome) were detected in total of amniotic fluids which were sent to our laboratory of Sivas region. These results were also confirmed by cell culture and karyotype analysis. Genetic counselling about their fetuses’ karyotype was given to both of the parents. Discussion. These results showed that QF-PCR is an effective method and can be used safely in prenatal diagnosis.

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Prenatal diagnosis , QF , PCR , aneuploidy

Cumhuriyet Medical Journal

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