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Publications

Journal Article Ahead of print

PubMed: 42365315 DOI: 10.1186/s13023-026-04472-6

Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysis.

Orphanet J Rare Dis

Authors: Gloria Somalo-Barranco, Alexandra Benachi, Laurence M Boon, Petra Borgards, Janine Dickinson, Freya Droege, Olivier Dupuis, Michael Frank, Guillaume Jondeau, Robert M Kauling, Diana Marinello, Edit Nagy, Jolien W Roos-Hesselink, Meike Rybczynski, Pernille Mathiesen Torring, Carine van der Vleuten, Aline Verstraeten, Liesbeth Wildero Van Wouwe, Dina Zucchi, Julie De Backer

Affiliations

  • Hôpital Bichat, VASCERN Coordination Team, Paris, France.
  • Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, Université Paris-Saclay, Paris, France.
  • Division of Plastic Surgery, Center for Vascular Anomalies, Saint-Luc University Hospital, UCLouvain, Brussels, Belgium.
  • VASCERN VASCA European Reference Centre, Brussels, Belgium.
  • Bundesverband Angeborene Gefäßfehlbildungen e.V. Federal Association of Congenital Vascular Malformation, Mülheim an der Ruhr, Germany.
  • Department of Dermatology, Phlebology and Lymphology, Nij Smellinghe Hospital, Drachten, The Netherlands.
  • VASCERN PPL European Reference Centre, Drachten, The Netherlands.
  • Department of Otorhinolaryngology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  • VASCERN HHT European Reference Centre, Essen, Germany.
  • Hospices Civils de Lyon, Service de Gynécologie-Obstétrique, Hôpital Lyon-Sud, Pierre-Bénite, France.
  • VASCERN HHT European Reference Centre, Lyon, France.
  • Département de Génétique, Centre de Référence des Maladies Vasculaires Rares and VASCERN MSA European Reference Centre, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.
  • INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France.
  • Department of Cardiology, Centre de référence pour le syndrome de Marfan et apparentés, AP-HP, Université Paris Cité, Hôpital Bichat-Claude Bernard, Paris, France.
  • VASCERN HTAD European Reference Centre, Paris, France.
  • Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • VASCERN HTAD European Reference Centre, Rotterdam, The Netherlands.
  • Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
  • Division of Valvular and Adult Congenital Heart Disease, Department of Cardiology, Karolinska University Hospital, Theme Heart and Vessels, Stockholm, SE-171 76, Sweden.
  • VASCERN HTAD European Reference Centre, Stockholm, Sweden.
  • University Hospital Hamburg-Eppendorf University Heart Centre, Hamburg, Germany.
  • VASCERN HTAD European Reference Centre, Hamburg, Germany.
  • Department of Clinical Genetics, Odense Universitetshospital, Odense, Denmark.
  • VASCERN HHT European Reference Centre, Odense, Denmark.
  • Department of Dermatology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, The Netherlands.
  • VASCERN VASCA European Reference Centre, Nijmegen, The Netherlands.
  • Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • VASCERN HTAD & MSA European Reference Centre, Antwerp, Belgium.
  • Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • VASCERN HTAD European Reference Centre, Ghent, Belgium.
  • Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • VASCERN HTAD European Reference Centre, Ghent, Belgium.
  • Department of Cardiology, Ghent University Hospital, Ghent, Belgium.

Abstract

BACKGROUND

Pregnancy in women with rare vascular diseases is highly challenging, as it can be associated with significant maternal and foetal risks, requiring complex and multidisciplinary management. Care across countries remains insufficiently characterized, and both patients and healthcare providers across Europe highlight the need for better structures and organization to support this critical and potentially life-threatening phase.

OBJECTIVE

To describe current practices, perspectives, and challenges faced by patients and healthcare professionals in the management of pregnancy in women with rare vascular diseases.

METHODS

A survey developed by the European Reference Networks (ERN) pregnancy working group was extended with VASCERN-specific questions, resulting in a 13-item questionnaire. The survey was distributed to healthcare providers and patient representatives (ePAGs). Qualitative data from open-ended responses were analysed using an inductive thematic approach.

RESULTS

36 responses were collected from 145 invited VASCERN members, resulting in a 25% response rate and representing 10 European countries. Most respondents were healthcare providers (83%). 17% were patient representatives. Thematic analysis identified five recurring themes, including the need for coordinated and collaborative multidisciplinary approaches, variability in the practices regarding preconception and genetic counselling, limited access to specialised centres for pregnancy monitoring, and the importance of structured delivery planning and postnatal follow-up.

CONCLUSIONS

This survey clearly shows that there are common concerns about pregnancy in women with rare vascular diseases. Improvement actions mainly involve better education and drawing up multidisciplinary care pathways and guidelines that will lead to better access and organisation of care. Initiatives in this direction have already been taken within VASCERN.

MeSH

Pregnancy, Rare Diseases, Vascular Diseases, Health Personnel