Abstract

Thrombophilia is a major cause of adverse pregnancy outcomes including increased risk of miscarriage. The Annexin 5 (ANXA5) protein, is an anticoagulant expressed on the apical surface of the syncytiotrophoblast that helps maintain placental vasculature. The presence of four mutations in the core promoter of the ANXA5 gene, known as the “M2” haplotype, results in reduced protein expression and increased risk of miscarriage and other placenta mediated pregnancy complications (PMPC). Infertile couples have a carrier frequency that is ∼14% higher than the general population.

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