Key result
PS K196E mutation frequency in recurrent pregnancy loss does not differ from the general population.
Why the study?
The genetic background of pregnancy-associated deep vein thrombosis and recurrent pregnancy loss related to congenital thrombophilia was unclear.
Are genetic mutations in antithrombin, protein C, and protein S associated with pregnancy-related DVT and recurrent pregnancy loss?
Are genetic mutations in antithrombin, protein C, and protein S associated with pregnancy-related DVT and recurrent pregnancy loss?
Rare genetic mutations in coagulation control factors may contribute to a small fraction of recurrent pregnancy loss cases, but the PS K196E mutation does not appear to increase this risk.
Answers are grounded in this paper and cite their sources.
Does not support PS K196E testing in recurrent pregnancy loss; leaves open roles for other antithrombin/protein C/S variants.
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Neki et al. (2016) conducted a review in Adverse pregnancy outcomes (deep vein thrombosis and recurrent pregnancy loss) (n=678). PS K196E mutation vs. General population was evaluated on Frequency of PS K196E mutation (p=0.96). The frequency of the PS K196E mutation in patients with recurrent pregnancy loss was 1.8%, which did not differ significantly from the 1.8% observed in the general population.
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