The combined QF-PCR and cytogenetic approach in prenatal diagnosis Akin Tekcan • Sengul Tural • Mehmet Elbistan • Nurten Kara • Davut Guven • Idris Kocak Received: 29 March 2014 / Accepted: 21 July 2014 / Published online: 31 July 2014 Ó Springer Science+Business Media Dordrecht 2014 Abstract In this study, the importance of quantitative fluorescence polymerase chain reaction (QF-PCR) aneu- ploidy diagnosis test which provides earlier and easier results were discussed. The cell cultures and DNA isola- tions were performed on 100 amniotic fluids. DNA isola- tions were made from peripheral blood samples of mothers who had blood-stained amniotic fluid samples. The reasons of references of these pregnant women to our division were increased maternal age, positive double/triple screening test and fetal anomaly history. QF-PCR applied to 19 short tandem repeat markers in the chromosomes 13, 18, 21 and genes X and Y chromosomes. All electropherogram peaks were evaluated on ABI3130. Thirty two (32 %) samples have high maternal age, seven (7 %) have fetal anomaly and the others have double/triple screening test positivity. Ninety-nine (99 %) of the 100 amniotic fluid samples were resulted, but one (1 %) of them could not examined because of the culture failure. The maternal contamination rates were determined as 3 %. Of 100 samples, 2 had tri- somy 21 (2 %), 1 had trisomy 13 (1 %), 1 had structural abnormalities (1 %) and the others (97 %) have not any aneuploidy. The results of QF-PCR were in compatible with the results of cell culture and chromosome analysis. Although QF-PCR is an easier and an earlier test, it has a limitation of not to able to scan full genome. It is also sensitive for maternal contamination, so it should be tested together with maternal blood samples. QF-PCR aneuploidy test is the fastest diagnostic test for prenatal diagnosis and so it provides less stressful period for pregnant women. Keywords Prenatal diagnosis Á Cytogenetic Á QF-PCR Á Aneuploidy Introduction Aneuploidies are the most frequent chromosomal abnor- malities at birth [1]. The great majority of chromosomal abnormalities are due to numerical variations of chromo- somes [2]. Errors in meiosis result in gametes that contain abnormal numbers of chromosomes and produce aneu- ploidies. Additionally, the aneuploidies are the most important causes of congenital malformation, abnormal sexual development and spontaneous abortion [1]. The most widely known aneuploidies are trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome) and numerical abnormalities of sex chromosomes [1, 2]. However sex chromosome aneuploi- dies are the less severe forms compared to others (such as Turner syndrome; 45, X, Klinefelter; 47, XXY) [1, 3]. Determination of aneuploidies is essential in the prenatal period. Therefore, various applications have been devel- oped to date. Prenatal diagnosis is routinely performed by standard cytogenetic techniques for numerical and major structural chromosomal abnormalities ( [ 5 Mb) in many laboratories [4–6]. Prenatal diagnosis of chromosomal abnormalities determined by analysis of cells from the amniotic fluid had its beginning in 1966 [1, 7, 8]. During the last 30 years, many studies have been aimed to develop rapid methods for prenatal diagnosis. The cytogenetic analysis is considered A. Tekcan (&) Á S. Tural Á M. Elbistan Á N. Kara Section of Medical Genetic, Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey e-mail: akintekcan@hotmail.com D. Guven Á I. Kocak Department of Gynecology and Obstetrics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey 123 Mol Biol Rep (2014) 41:7431–7436 DOI 10.1007/s11033-014-3630-7