
OBJECTIVE:
To estimate the association between five commonly inherited
thrombophilia polymorphisms and adverse pregnancy outcomes in women who
had no prior history of adverse pregnancy outcomes or personal or
family history of venous thromboembolism.
METHODS:
Healthy nulliparous women (n=2,034) were recruited to this prospective
cohort study before 22 weeks of gestation. Genotyping for factor V
Leiden, prothrombin gene mutation, methylenetetrahydrofolate reductase
enzyme (MTHFR) C677T, MTHFR A1298C, and thrombomodulin polymorphism was
performed. Clinicians caring for women were blinded to the results of
thrombophilia tests. The primary composite outcome was the development
of severe preeclampsia, fetal growth restriction, placental abruption,
stillbirth, or neonatal death.
RESULTS: Complete
molecular results and pregnancy outcome data were available in 1,707
women. These complications were experienced by 136 women (8.0%).
Multivariable logistic regression demonstrated two statistically
significant findings. Women who carried the prothrombin gene mutation
had an odds ratio of 3.58 (95% confidence interval [CI] 1.20–10.61, P=.02)
for the development of the composite primary outcome. Homozygous
carriers of the MTHFR 1298 polymorphism had an odds ratio of 0.26 (95%
CI 0.08–0.86, P=.03). None of the other polymorphisms studied
showed a significant association with the development of the primary
outcome in this cohort of women.
CONCLUSION:
Prothrombin gene mutation confers an increased risk for the development
of adverse pregnancy outcomes in otherwise asymptomatic, nulliparous
women, whereas homozygosity for MTHFR 1298 may protect against these
complications. The majority of asymptomatic women who carry an
inherited thrombophilia polymorphism have a successful pregnancy
outcome.
LEVEL OF EVIDENCE: II
Cedip promueve construir equidad en nuestra área mediante el libre acceso a la información médica, para mejorar la práctica clínica y la atención de pacientes embarazadas.
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En una península precordillerana, un faro es apagado por los prejuicios y la tristeza. A cientos de kilómetros, hombres y mujeres esforzados conviven en una caleta con uno de esos puñados milagrosos de naturaleza que Dios arrojó tras una montaña que los protegió por tiempos no discernibles.

