Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide
Abstrakt
The possibilities of the implementation of the quantitative fluorescent polymerase chain reaction (QFPCR) in the molecular genetic detection of the most frequent aneuploidies of chromosomes 13, 18, 21, X and Y for their prenatal and postnatal diagnosis, are summarized. The use of the new STR markers for chromosomes 13, 18 and 21 was verified, as well as of the already widely used ones for rapid prenatal diagnosis in high (genetic) risk pregnancies.
The use of only 0.1 mL of amniotic fluid of the non adherent amniocytes, that are discarded with the first change of culture medium, degenerated cells from abortions, mola hydatidosa, also allow reliable aneuploidy detection. The QFPCR was also applied for reliable determination of paternity, discrimination of zygosity, ascertainment of the parental and meiotic origin of aneuploidies, for the detection of the microchimerism of Y chromosome, of uniparental disomy (UPD).
Quantitative fluorescent PCR detects submicroscopical partial monosomies and trisomies with mapping of their extent, fertilization disorders and malignization risk in different types of mola hydatidosa, for elucidation of slide and culture mischanges in prenatal diagnosis. Quantitative fluorescent PCR also assures rapid diagnosis of severe prenatal disorders on any type of fetal cells in the range of first to third trimester.
Rapid prenatal sex determination is important in rational prenatal examination of X-linked metabolic and other disorders. These QFPCR studies are used for genetic counseling and for the study of the impact of the Chernobyl accident; different lifestyles and other exogenous factors; impact on the possible alteration of proportions of meiosis I and II, and of their maternal and parental origin.