As part of the prenatal screening of the first trimester of pregnancy, biochemical parameters of blood were analyzed in 1214 women. The level of serum markers β-hCG and PAPP-A in pregnant women are sensitive indicators of chromosomal pathology of the fetus. With trisomy on the 21st chromosome, an increase in the content of β-hCG and a decrease in the level of PAPP-A are often observed in the patient's blood. With fetal trisomy on chromosome 18, both indicators show a tendency to a significant decrease relative to the norm. It should be taken in account that both with fetal euploidy and with chromosomal abnormalities, atypical values of indicators can be established, which requires the involvement of additional markers in the analysis. In any case, biochemical analysis allows only to establish the likelihood of the presence of pathology of the fetus and attribute pregnancy to the risk group. The final conclusion about the presence or absence of chromosomal pathology can only be given by a cytogenetic analysis of the fetal material.
prenatal screening, β-hCG, PAPP-A, trisomy, cytogenetic analysis
1. Filippov O.S., Andreeva E.N., Goloshubov P.A., Kalashnikova E.A., Odegova N.O., Zhuchenko L.A. Modern prenatal screening for congenital malformations and chromosomal abnormalities in the Russian Federation. Results of the Audit-2017 // Medical Genetics. 2017. Vol. 16, No 11. pp. 7-10.
2. Nicolaides K. H. Screening for fetal aneuploidies at 11 to 13 weeks // Prenat Diagn. 2011. Vol. 31. P. 7-15. https://doi.org/10.1002/pd.2637
3. Wright D., Syngelaki A., Bradbury I., Akolekar R., Nicolaides K.H. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing // Fetal Diagnosis and Therapy. Vol. 35, No 2. pp. 118-126. doihttps://doi.org/10.1159/000357430
4. Donovan B.M., Nidey N.L., Jasper E.A., Robinson J.G., Bao W., Saftlas A.F First trimester prenatal screening biomarkers and gestational diabetes mellitus: A systematic review and meta-analysis // PLoS ONE. 2018. Vol. 13, No 7. e0201319. https://doi.org/10.1371/journal.pone.0201319
5. Luewan S, Teja-intr M, Sirichotiyakul S, Tongsong T Low maternal serum pregnancyassociated plasma protein-A as a risk factor of preeclampsia // Singapore Med J. 2018. Vol. 59, No 1. pp. 55-59. doi:https://doi.org/10.11622/smedj.2017034