Glazkova I. Early diagnosis of fetal anomalies and prenatal genetic counseling

Based on the large database of prenatal diagnosis' results, methodological approaches to early ultrasound diagnosis were considerably improved. It led to a significant increase of diagnostic and predictive value of ultrasound examinations in the first trimester. Early detection of various congenital abnormalities has been doubled due to the introduction of advanced ultrasound protocol and Doppler markers, regional fetometry parameters, that differ significantly from the generally accepted data as well as internal and external quality control to avoid errors and reduce rate of false positive and false negative results. It has been proved that diagnostic value of the first trimester ultrasound markers is differed during traditionally accepted period of examination - 11 weeks and 1 day - 13 weeks and 6 days of pregnancy. The most informative terms for markers' estimation as well as for fetal anatomy examination are 12 -13 weeks of gestation. With the help of improved approaches to prenatal genetic counseling the efficiency of delivery information on screening and diagnostic examinations was increased in 6 times.