Familial thrombophilia and the occurrence of fetal growth restriction

Background and Objectives. To evaluate the association between unexplained or gestational-hypertension-associated fetal growth restriction (FGR) and factor V Leiden, prothrombin A²⁰²¹⁰ mutations, and methylenetetrahydrofolate reductase (MTHFR) TT 677 genotype. Design and Methods. Sixty-one women with a previous history of FGR and 93 parous women with uneventful pregnancies from the same ethnic background were investigated for the presence of factor V (FY) Leiden, prothrombin A²⁰²¹⁰ mutations, and MTHFR TT 677 genotype. Moreover, antiphospholipid antibodies, antithrombin, protein C, and total and free protein S antigen were determined in all patients. Results. Among the controls, 2 (2.2%) carried the FV Leiden mutation, 19 (20.4%) were TT MTHFR homozygotes and 1 (1.6%) carried the prothrombin A²⁰²¹⁰ allele. The FV Leiden mutation was present in 8 women with FGR (13.1%, OR: 6.9, 95%Cl 1.4-33.5), the TT MTHFR homozygosity in 17 (27.8%, OR: 1.5, 95%Cl 0.7-3.2) and the A²⁰²¹⁰ prothrombin allele in 7 (11.5%, OR: 5.9, 95%Cl 1.2-29.4). In six cases (9.8%) there was coexistence of more than one mutation (2 had the FV Leiden and the TT MTHFR genotype and 4 carded the A²⁰²¹⁰ prothrombin allele and TT MTHFR genotype). A logistic regression analysis showed that FV Leiden and A²⁰²¹⁰ prothrombin mutations were independently associated with the occurrence of FGR. Interpretation and Conclusions. Present data indicate an association between prothrombotic genetic factors and FGR.