Preconception Screening for Gene Polymorphisms Associated with Thrombophilia and Hyperhomocysteinemia Risk in Healthy Young Women

Tatiana E. Belokrinitskaya, PhD, ScD¹*; Nataly I. Frolova, PhD¹; Nataliya N. Strambovskaya, PhD¹; Elena Yu. Glotova²

¹Сhita State Medical Academy, Chita, Russian Federation

²Transbaikal Regional Perinatal Center, Chita, Russian Federation

*Corresponding author: Professor Tatiana E. Belokrinitskaya, PhD, ScD, Head of the Department of Obst&Gynec., Сhita State Medical Academy; 39-a, Gorky str., Chita, Russian Federation, 672090. Tel: 7-914-4693225. E-mail:

Published: September 24, 2013


The frequency characteristics of the gene polymorphisms (FVL G1691A, FII  G20210A, MTHFR  C677T, MTHFR A1298C, MTRR A66G) associated with thrombophilia, hyperhomocysteinemia risk and different perinatal or pregnancy complications were studied. This examination was conducted among 130 planned-pregnancy healthy young women aged between 19 and 29 years. A gene mutation analysis was performed using a real-time polymerase chain reaction (real-time PCR). Factor V Leiden (FVL G1691A) and prothrombin gene (FII G20210A) mutations were not identified in the women surveyed. The frequency of the occurrence of the heterozygous FVL 1691G/A genotype associated with the risk of thrombosis during pregnancy was very low in these women (0.8%). The frequency of the MTHFR (methylenetetrahydrofolate reductase) 1298C/С mutant genotype was 11.5%, MTHFR 677T/Т – 5.4%, and MTRR (methionine synthase reductase) 66G/G – 31.5%. A combination of the MTHFR 677TT/1298CC and MTHFR 677TТ/MTRR 66GG mutant genotypes, which significantly increased the risk of pregnancy loss and neural tube defects, were found to occur in 0.8% of the cases. We concluded that selective thrombophilia screening (FVL G1691A and FII G20210A) based on prior personal and/or family history of venous thromboembolism was more cost-effective than a universal preconception screening in all planning pregnancy women. However, in order to decrease the risk of congenital anomalies and pregnancy complications associated with folate dependent homocysteine metabolism, preconception care should include folate supplementation.

gene polymorphism; factor V Leiden; prothrombin gene mutation; methylenetetrahydrofolate reductase; methionine synthase reductase; preconception care.
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Int J Biomed. 2013; 3(3):177-179. © 2013 International Medical Research and Development Corporation. All rights reserved.