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

ABSTRACT

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.