TY - JOUR
T1 - Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome
T2 - A Retrospective Multicentre Cohort Study
AU - van den Bersselaar, Lisa M
AU - van de Laar, Ingrid M B H
AU - Baars, Marieke J H
AU - Baas, Annette
AU - Dulfer, Eelco
AU - Helderman-van den Enden, Apollonia T J M
AU - Hilhorst-Hofstee, Yvonne
AU - Kauling, Robert M
AU - Kempers, Marlies J E
AU - Oudijk, Martijn A
AU - Maugeri, Alessandra
AU - Brüggenwirth, Hennie T
AU - Houweling, Arjan C
AU - Demirdas, Serwet
N1 - Publisher Copyright:
© 2025 The Author(s). BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.
PY - 2026/2
Y1 - 2026/2
N2 - 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.
AB - 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.
KW - COL3A1
KW - delivery
KW - pregnancy
KW - type III collagen
KW - vEDS
KW - vascular EDS
UR - https://www.scopus.com/pages/publications/105000827895
U2 - 10.1111/1471-0528.18142
DO - 10.1111/1471-0528.18142
M3 - Article
C2 - 40104886
SN - 1470-0328
VL - 133
SP - 463
EP - 470
JO - BJOG - An International Journal of Obstetrics and Gynaecology
JF - BJOG - An International Journal of Obstetrics and Gynaecology
IS - 3
ER -