Familial thrombophilia and the occurrence of fetal growth restriction.
OBJECTIVE
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.


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 (FV) 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%CI 1.4-33.5), the TT MTHFR homozygosity in 17 (27.8%, OR: 1.5, 95%CI 0.7-3.2) and the A20210 prothrombin allele in 7 (11.5%, OR: 5.9, 95%CI 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 carried 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.


CONCLUSIONS
Present data indicate an association between prothrombotic genetic factors and FGR.
Martinelli
P
P
Obstetrics and Gynecology Department of University Federico II, Naples, Italy.
Grandone
E
E
Colaizzo
D
D
Paladini
D
D
Sciannamé
N
N
Margaglione
M
M
Di Minno
G
G
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005192:Family Health; D005260:Female; D005317:Fetal Growth Retardation / Q000097:blood / Q000209:etiology* / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology; D019851:Thrombophilia / Q000097:blood / Q000235:genetics*