Study of biochemical markers during the first trimester of pregnancy among women of Almaty city

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.