Open access
Peer reviewed journal

Actual Gynecology
and Obstetrics


Genetic analysis from maternal blood (article in Slovak)
Rastislav Sysák, Peter Štencl, Barbora Izrael Vlková, Katarína Greksová, Viera Oroszová, Marcel Hrebenár
Actual Gyn 2014, 6, 1-4
Publication date: 2014-01-17
Manuscript ID: 0513018
Počet zobrazení: 8322

It has been 16 years since there has been a discovery of cell-free fetal DNA (cffDNA) in mother‘s blood. However in the last 5 years there has been more researching done in the purpose of its specific diagnosis, concentration and molecular size, which have later on reflected into particular tests. These have been available only in the past 2 years.
Within the actual trend in preference of non-invasive methods of prenatal diagnosis and its shifting into first trimester the examination of mother’s blood has been showing as a very perspective method for early cell-free fetal DNA discovering of chromosome aberration diagnosis of fetus. Its wider enforcement is unfortunatelly limited by a small amount of studies within non-risk pregnancy groups of patients  as well as its higher financial cost. Despite of this information this method is extending further more from United States of America into whole world which lowers its costs and its becoming more accesible for a wider amount of patients.
Within detailed researching in a group of risk pregnancy patients this method could perspectively minimize a risk of fetus loss which is main complication of invasive methods of prenatal diagnosis.

Key words: prenatal diagnosis, cell-free fetal DNA, prenatal screening of trisomy 21, 18 and 13, massively parallel sequencing