Abstract
One of actual problems is the birth of children with genetic diseases, such as Down syndrome, Edwards syndrome, Patau syndrome, Shereshevsky-Turner syndrome. Study of level of biochemical markers of the first trimester of pregnancy for diagnose of chromosomal abnormalities in fetus was the purpose and objectives of this research. A risk group was identified, including 684 women on the base of results of studies of biochemical markers of the 1-st trimester of pregnancy – PAPP-A and β-hCG. In these pregnant women, PAPP-A and β-hCG concentrations were higher or lower than normal values. It has been shown that decrease in PAPP-A levels and increase or decrease in β-hCG in the 1-st trimester of pregnancy may indicate the presence of a chromosomal abnormality in the fetus. Next, a pattern has been identified that with increasing women age, the risk of having children with chromosomal abnormalities increases. During the study, it was found that PAPP-A levels are reduced at Down and Edwards syndromes and slightly reduced at Shereshevsky-Turner syndrome. Level of β-hCG is significantly higher at Down syndrome, while at Edwards syndrome, on the contrary, it has reduced values; and at Shereshevsky-Turner syndrome the level of β-hCG has a normal value. Changes in levels of these indicators from norm do not always indicate a fetal pathology, but they are grounds for further medical examination.