Introduction. In recent decades there is a tendency of the inherited diseases and congenital abnormalities increase in world population. Due to WHO data the inherited diseases and congenital abnormalities are registered in 5–5.5% of the newborns, 1.5% of them are due to the unfavourable exogenic reasons during pregnancy, others are of mainly genetic nature.
The research objective — to study the comparative aspects of the ultrasonic and biochemical screening in fetal congenital developmental and chromosomal abnormalities.
Materials and methods. 251 pregnant women and their fetuses were under observation (163 — main group with different fetal congenital anomalies diagnosed during pregnancy or just after labours, comparative group — 88 women with the risk of congenital anomalies but delivered healthy children and 59 — control group — women without risk of congenital anomalies) to perform clinical obstetrical examination, ultrasonic feto- and placentometry in 10–14th, 20–24th and 32–34th weeks of gestation, serum levels of AFP, PAPP and HCG.
Results and conclusions. Ultrasonic markers take a leading place in early diagnostics of congenital developmental anomalies and chromosomal anomalies. During the ultrasonic markers structure analysis the combination of several in comparison with the isolated changes is 1.9 times more often noted, chromosomal anomalies are revealed in 13.3% at the isolated ultrasonic markers and in 9.4% at a combination of several ones. The greatest relative density in structure of all ultrasonic markers belongs to congenital heart diseases (11.7%), among them high level of chromosomal anomalies — 57.1% is noted at the isolated congenital defects and 20.7% at their combination to other ultrasonic markers. High level of a chromosomal pathology is noted at fetal growth retardation (66.7%) and cysts gygrome of neck (37.5%) in a combination with other ultrasonic markers. Specific deviations from normal pregnancy markers at various kinds of congenital developmental anomalies had 16–71% of patients, complex changes pregnancy markers are noted in 19.2% in the basic group of patients and in 10.0% — in comparison group. The received results are necessary for consideration by algorithm working out in forecasting measures at women with risk factors.