Balkan Journal of Medical Genetics

RAPID DETECTION OF FETAL ANEUPLOIDIES BY QUANTITATIVE FLUORESCENT-POLYMERASE CHAIN REACTION FOR PRENATAL DIAGNOSIS IN THE TURKISH POPULATION
Guzel AI, Yilmaz MB, Demirhan O, Pazarbasi A, Kocaturk-Sel S, Erkoc MA, Inandiklioglu N, Ozgunen FT, Sariturk C
*Corresponding Author: Associate Professor Ali Irfan Guzel, Department of Medical Biology and Genetics, Faculty of Medicine, Rize University, 53100, Rize, Turkey; Tel.: +90-464-212-30-09; Fax: +90- 464-212-30-15; E-mail: aliirfanguzel@hotmail.com
page: 11

INTRODUCTION

Pregnant women who are at increased risk of chromosome abnormalities (usually due to maternal age, altered serum metabolites, or ultrasound abnormalities in fetus), undergo invasive sampling, either amniotic fl uid (AF), chorionic villus (CV) or, rarely, fetal blood (FB). Cells from these samples are used either for full karyotype analysis or for DNA extraction, which would be used in molecular studies to detect numerical chromosome anomalies or specifi c gene mutations by quantitative fl uorescent-polymerase chain reaction (QF-PCR) or real time PCR, respectively [1]. Prenatal diagnosis of common chromosomal aneuploidies is routinely achieved by standard cytogenetic techniques. In these procedures, fetal cells must be cultured for up to 2 (or more) weeks before analysis. Therefore, the duration of these processes is the major disadvantage of these techniques. A rapid diagnosis is of paramount importance in the case of a fetus with abnormal ultrasound fi ndings, which may, in most cases, suggest an aneuploidy for chromosomes 21, 18, 13, or X (the most common chromosomal aneuploidies) [2]. In the early 1990s, fl uorescence in situ hybridization (FISH) and, more recently, QF-PCR, has been introduced to the fi eld of prenatal diagnosis to overcome the need of fetal cell culturing that also allows rapid diagnosis of the most common chromosomal anomalies, thereby enabling physicians to manage the pregnancy of an abnormal fetus at an earlier time of gestation [3]. The QF-PCR method is based on PCR amplifi cation of selected chromosome- specifi c short tandem repeat (STR) markers [4,5]. During the amplifi cation process, a fl uorochrome is incorporated into the amplifi ed products that can be visualized and quantifi ed accurately as peaks on automated DNA scanners. Normal heterozygous subjects for a specifi c chromosome are expected to have two peaks where the area below the peaks are at a 1:1 ratio. The trisomies, however, are visualized either as three peaks with a 1:1:1 ratio (trisomic triallelic subjects) or as two peaks with a 2:1 ratio (trisomic diallelic subjects) when comparing the peak areas of a specifi c STR marker [4]. Parental origin of the aneuploidy can also be deduced by comparing the fetal allele sizes in base pairs with parental allele sizes in base pairs [4,6,7]. Quantitative fl uorescent-PCR is increasingly being considered and proposed as a complementary investigation, or even as an alternative to conventional cytogenetic analysis for prenatal diagnosis in most clinical settings [8-10]. In summary, we report the results of multiplex (employing two or more sets of primers in one reaction condition) QF-PCR applied to 1874 pregnancies for the detection of the most prevalent autosomal and sex chromosome aneuploidies or euploidies.

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