Prenatal Diagnostics in the Republic Sakha (Yakutia)

Abstract

The purpose of research. To analyze of the effectiveness of prenatal diagnostics in the Republic of Sakha (Yakutia) and the effect of combined prenatal screening for chromosomal abnormalities.

Materials and methods. In work the analysis of invasive prenatal diagnostics in the medical genetic consultation Perinatal Centre, Republican Hospital №1 - NCM for 2005-2013, the results of combined prenatal screening in the RS (Y) for 2012 and 2013 are presented. In the laboratory of the prenatal diagnosis of the medical genetic consultation Perinatal Centre 2012 and 2013 by the combined of screening program 16397 pregnant women were examined.

Results. In the system of actions of prenatal diagnostics one of the most important places belongs to the invasive methods for obtaining the fetal material. In most cases, invasive prenatal diagnosis is carried for excluding chromosomal and of monogenic diseases of the fetus. Groups for invasive prenatal diagnosis are formed on the results of the combined prenatal screening, the presence of the echographic markers in the fetus, as well as on the results medical genetic counseling.