Rapid Detection of Most Frequent Chromosomal Aneuploidies by the Multiplex QF PCR Method in the First Trimester of Pregnancy

Czech version

Authors: D. Vrbická; R. Vodička; R. Vrtěl; I. Dhaifalah; J. Šantavý
Authors‘ workplace: Ústav lékařské genetiky a fetální medicíny FN a LF UP, Olomouc, přednosta prof. MUDr. J. Šantavý, CSc.
Published in: Ceska Gynekol 2006; 71(4): 280-284
Category: Original Article

Overview

Objective:
Rapid detection of most frequent aneuploidies by the multiplex QF PCR method in non-cultured samples of chorial tissue. Summarized results of QF PCR method applied in the management of care of pregnant women in the first trimester of pregnancy.

Type of study:
An original contribution.

Setting:
Institute of Medical Genetics and Fetal Medicine, Faculty Hospital and Medical Faculty, Palacky University Olomouc.

Methods:
The samples of chorial tissue were obtained from 101 pregnant women. Non-cultured samples were processed by the multiplex QF PCR method. STR loci of chromosomes 13, 18, 21 and X and Y were analyzed. These markers were amplified in two separate multiplex PCR reactions under the same conditions and subjected to fragmentation analysis in capillary electrophoresis.

Results:
All 101 analyzed samples of chorial tissue were successfully amplified. In this group, 16 pathologies of the fetuses were detected by the multiplex QF PCR method. Triploidy was detected in two cases, trisomy of chromosome 21 –⁠ Down syndrome was found in seven cases, and trisomy of chromosome 18 –⁠ Edwards syndrome was found in six cases and monosomy of gonosome X –⁠ the Turner’ s syndrome was revealed once.

Conclusions:
The multiplex QF PCR method is an indispensable part of the screening of the first trimester and provides a rapidly available and reliable result in the examined patients.

Key words:
aneuploidy, STR, multiplex PCR, first trimester screening, prenatal diagnostics