PP162. QF-PCR ANALYSIS AND INDICATIONS FOR INVASIVE PRENATAL PROCEDURES
RADOSTINA RAYNOVA, Ivo Kremensky, Silvia Andonova National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University - Sofia, Bulgaria e-mail: sandonova@netscape.net
*Corresponding Author:
page: 120

Abstract

Rapid diagnosis by Quantitative Fluorescent PCR analysis (QF-PCR) has proved its cost-efficiency, speed and efficacy for prenatal detection of the most common autosome aneuploidies - trisomy 21, trisomy 18, trisomy 13. QF-PCR technique was performed on 1368 DNA samples, extracted from amniotic fluid, CVS, fetal tissue after abortion. Ten polymorphic STR markers, (4 located on chromosome 21, 3 - on chromosome 18 and 3 - on chromosome 13) were amplified with Cy5-labeled primers. The main referral indications for the invasive prenatal procedure were advanced maternal age >35 y (50.9 %), abnormal maternal serum screening (20.2 %), abnormal ultrasound screening (5.0 %), a positive family hist ory for different disorders (8.5 %), parental anxiety (6.7 %), or more than one indication (8.8 %). Normal electrophoretic profiles for chromosomes 21, 18 and 13 were obtained in 96.6 % of the samples. QF-PCR technique correctly detected abnormal results concerning chromosomes 21, 18, 13 in 10 of the fetuses, referred because of advanced maternal age (21.7 % of diagnosed autosomal aneuploidies with DNA analysis), in 11 with abnormal maternal serum screening (23.9%), in 13 with abnormal ultrasound (28.3%), in 2 - with balanced rearrangements including chromosome 21 in the family (4.3%) and in 10 fetuses with more than one indication (21.7%). Our results indicate that QF-PCR technique provides ? reliable alternative to cytogenetic analysis especially when maternal serum screening is abnormal or family history for balanced rearrangements including target chromosomes is present.




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