Rapid prenatal aneuploidy testing.
Authors:
K. Melišová 1; V. Ferák 2; M. Ondrejčák 1; J. Hinšt 3; P. Kleskeň 3; J. Matušek 2
Authors‘ workplace:
Oddelenie klinickej genetiky ŽNaP NOVAPHARM s. r. o. Bratislava
1; DNA TEST s. r. o. Bratislava
2; I. gynekologicko-pôrodnícka klinika SZU a FNsP Bratislava
3
Published in:
Prakt Gyn 2009; 13(4): 234-238
Overview
Rapid prenatal aneuploidy testing has been introduced as a validated diagnostic method. Quantitative fluorescent polymerase chain reaction (QF PCR) allows to confirm or exclude aneuploidy 13, 18, 21 and sex chromosomes in pregnant at risk within 24– 48 hours. If the chromosomal pathology is confirmed the termination of pregnancy can be reduced in 2– 3 weeks. Our objective was the implementation of QF PCR into clinical praxis. The principle of the method is elucidated, series of 184 tests follows. The abnormality rate was 4,9 % and an optimal management was established. Comparison of QF PCR and FISH method, residual pathology and the role of QF PCR in clinical praxis is discussed (Fig. 1, Tab. 2) [26].
Key words:
prenatal diagnosis – QF PCR – STR – rapid aneuploidy detection, residual risk
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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineArticle was published in
Practical Gynecology
2009 Issue 4
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