Future of prenatal cytogenetic studies: rapid aneuploidy testing or full karyotype

Abstract

The traditional „gold standard” for prenatal diagnosis of chromosome abnormalities involves analysis of banded chromosomes obtained from cultured amniotic fluid or chorionic villus cells. Most studies are performed because of increased risk of aneuploidy of chromosomes 13, 18 and 21. It constitute 65-85% of all chromosome aberrations diagnosed prenataly. At present more rapid (in 1-3 days) methods than conventional cytogenetics, enabling the diagnosis of aneuploidy are available. They include FISH (fluorescence in situ hybridization), QF-PCR (quantitative fluorescence polymerase chain reaction) and MLPA (multiplex ligation-dependent probe amplification) techniques. However, it is important to know how many other chromosomal abnormalities would not be detected using these tests for the estimation of their clinical utility. Currently, most laboratories perform rapid tests for aneuploidy together with full karyotype. The criteria of using of rapid aneuploidy tests as a stand-alone test in prenatal diagnosis are currently discussed. Here, the diagnostic capacity and limitations of rapid tests for aneuploidy detection as well as debate on the change of the policy for cytogenetic prenatal diagnosis is presented.