COMPARATIVE ANALYSIS OF BIOCHEMICAL PARAMETERS IN FETUSES WITH CONGENITAL MALFORMATIONS

Abstract

Congenital malformations are among the most critical complications leading to disability and mortality in fetuses and newborns. The incidence of children born with congenital and hereditary diseases is approximately 5% of all births. Annually, nearly 303,000 infants die within the first four weeks of life due to these defects. Hereditary factors account for about 15% of cases, aggressive environmental factors for 10%, and the combination of genetic and environmental influences for 20-25% of fetal congenital anomalies (Yangibayeva D.T., 2024. SYNAPSES: 191–197).

​Congenital defects hold a leading position in the structure of perinatal mortality. Screening of pregnant women is conducted during the first and second trimesters. While the risk of pathologies such as Down and Edwards syndromes can be calculated in the first trimester, the risk of neural tube defects (NTDs) is primarily assessed starting from the second trimester. This is because alpha-fetoprotein (AFP), the primary marker for identifying such risks, is effectively determined during the second trimester of pregnancy. Consequently, prenatal diagnostics plays a vital role in the early detection of congenital malformations and hereditary diseases.