Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

OBJECTIVE: We aim to increase knowledge on pregnancy and delivery risks in vascular Ehlers-Danlos Syndrome (vEDS). Our outcomes can contribute to establishing future guidelines for pregnancy and delivery management in women with vEDS. DESIGN: Retrospective multicentre cohort study. SETTING: Women with vEDS due to pathogenic/likely pathogenic (P/LP) COL3A1 variants are at increased risk for arterial dissection and pregnancy-related complications during pregnancy and delivery. POPULATION: Women with a P/LP COL3A1 variant were included from 2019 until 2021. METHODS: Genetic and clinical data was collected through retrospective analysis. MAIN OUTCOME MEASURES: Description of the genotype and pregnancy-related outcomes. RESULTS: We collected information about 121 pregnancies of 43 women with vEDS, including nine women with a haploinsufficient variant. Neither uterine rupture nor life-threatening or fatal vascular events occurred in the perinatal period. The miscarriage rate was 19% (23/121) and 19.1% of the live births were preterm (18/94). Miscarriages were significantly more frequent in women with a glycine substitution in COL3A1 compared to other COL3A1 variant types (19/23, 82.6%, p = 0.018). Thirty-four women had a vaginal birth (79.1%), including 1/7 with known vEDS. Eight deliveries were complicated by severe perineal tears, and six by postpartum haemorrhage. CONCLUSIONS: No pregnancy-related deaths, arterial dissections or uterine ruptures occurred in our cohort. Since no life-threatening events occurred during pregnancy and delivery, discouragement of pregnancy in all women with vEDS in current guidelines might be too strict. Based on these data, we propose a shared decision-making process.