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. 2025 Mar 19.
doi: 10.1111/1471-0528.18142. Online ahead of print.

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

Lisa M van den Bersselaar  1 , Ingrid M B H van de Laar  1 , Marieke J H Baars  2   3 , Annette Baas  4 , Eelco Dulfer  5 , Apollonia T J M Helderman-van den Enden  6 , Yvonne Hilhorst-Hofstee  7 , Robert M Kauling  8 , Marlies J E Kempers  9 , Martijn A Oudijk  10   11 , Alessandra Maugeri  2 , Hennie T Brüggenwirth  1 , Arjan C Houweling  2   3 , Serwet Demirdas  1
Affiliations

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

Lisa M van den Bersselaar et al. BJOG. .

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.

Keywords: COL3A1; delivery; pregnancy; type III collagen; vEDS; vascular EDS.

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References

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