Biochemistry-based analysis of prenatal diagnosis assessing the risk of congenital fetal development disorders

Abstract

INTRODUCTION. Biochemical analysis of serum is an important non-invasive test for detecting patients with an increased risk of congenital malformations. Modern serum analysis helps to identify pregnant women who are at risk of neural tube defects, 21 and 18 chromosome trisomy (Down and Edwards syndromes). OBJECTIVE. To evaluate the results of changes in biochemical blood markers in prenatal diagnostics. METHODS. Analysis of 1118 pregnant women‘s (mean age 33 ± 5 years), tested at the LUHS medicine laboratory in 2014–2015, the results of biochemical blood tests intended for prenatal screening. First trimester markers (n = 927) (double test): plasma protein A (PAPP-A) and free -chorionic gonadotropin (-hCG) analysed in weeks 11–13 and/or second trimester markers (n = 384) (triple test): alpha-fetoprotein (AFP), chorionic gonadotropin (hCG), unconjugated estriol (uE3) analysed in pregnancy weeks 14–20. Investigations were carried out with the Delfin 6000 Xpress analyser using the immunometric method, Wallace Oy DELFIA Xpress (Finland) reagent kits. Statistical analysis of the data was performed with the IBM SPSS 20 program. The patients were divided into 4 age groups (under 30, 30–34, 35–37 and over 37 years.). Differences between the groups were analysed by ANOVA statistical method. Data were statistically significant at p < 0.05. RESULTS. In the first trimester pregnant women aged up to 30 years were found to have lower -hCG, and in the second trimester, higher concentration of AFP, compared with the age group of 30–34 years, and increased uE3 concentrations compared with all older age groups. Higher concentrations of -hCG and lower concentrations of uE3 were found in the blood of primigravida aged 30–34 years. CONCLUSIONS. Pregnant women aged 30–34 years showed major biochemical abnormalities, especially in the first pregnancy, which indicates the potential risk of fetal pathology, and