The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications

How I treat patients with hereditary antithrombin deficiency

“…47 In most cases, their functional AT level is ,35%. 18,19 These women also have an exceptionally high risk of miscarriage and fetal death. Successful pregnancy outcomes are rare and have only been observed in women on anticoagulation.…”

“…Even in women with concomitant LMWH and AT replacement during pregnancy, the risk of pregnancy loss was 50%. 18,19…”

“…15,16 They may show a severe thrombotic tendency, including childhood thrombosis 17 and pregnancy complications. [17][18][19] Although no clear association between heterozygous AT deficiency and arterial thrombosis has been demonstrated, 20,21 carriers of a homozygous AT mutation are at increased risk of arterial thrombosis. 17,22 Hereditary AT deficiency is, in most cases, transmitted as an autosomal dominant disease with variable penetrance and equal distribution between sexes.…”

Clinical guidance for peripartum management of patients with hereditary thrombophilia

“…Pregnant women with homozygous AT Budapest 3 (c.391C > T, p.L131F) may be unable to carry a pregnancy to full term, and even with treatment the live birth rate is reported to be only 28.5%. 25 In heterozygotes, recurrent VTE may develop with any of the deficiencies from childhood through young adulthood, triggered by factors such as pregnancy and delivery, long-term immobility, trauma, surgical invasion, infection, dehydration, or use of a combined oral contraceptive (COC). Initial symptoms include DVT, PTE, cerebral venous sinus thrombosis, superior mesenteric venous thrombosis, or portal vein thrombosis.…”

“…34,[96][97][98] Recently, the inability to carry a pregnancy to full term has been reported in women with homozygous AT Budapest 3. 25 There are also reports, although few, suggesting that measurement of factor XII (FXII) is meaningful. 94,96 Clinically diagnosed abortion occurs with a frequency of 12-15%, but the frequency of two consecutive abortions is said to be 2%-5% and that of three or more about 1%.…”