Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the “ERN transversal working group on pregnancy and family planning” survey

This study underscores the widespread need for comprehensive, patient-centred approaches in pregnancy and family planning for individuals with rare and low prevalence diseases. Improved access to specialised healthcare teams, psychological support, and clear, standardised medical information is essential. These findings advocate for the development of harmonised European policies and multidisciplinary strategies to enhance reproductive healthcare. People living with rare diseases often face extra challenges when it comes to pregnancy and family planning. To better understand these issues, a group of experts and patient representatives from 20 European Reference Networks (ERNs) worked together to conduct a survey. A European survey of 769 people, mostly women aged 31 to 40 from Germany, France, Spain, and Italy, revealed significant gaps in care. The most common concerns shared by patients included difficulty finding clear medical information, not enough psychological support, gaps in counselling, and challenges with checking on health during and after pregnancy. Many felt that better teamwork among different healthcare providers and improved education on reproductive health would make a big difference. In summary, this study underscores the urgent need for better reproductive healthcare for people with rare diseases.

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Publication Details

Journal
Reproductive Health
Published
2025-11-25
DOI
https://doi.org/10.1186/s12978-025-02136-5
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the “ERN transversal working group on pregnancy and family planning” survey

Chantal Smulders, Estelle Lecointe‐Artzner, Marzena Olesińska, Dina Zucchi et al.
Reproductive Health
Genomics and Rare Diseases
article

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the “ERN transversal working group on pregnancy and family planning” survey

Chantal Smulders, Estelle Lecointe‐Artzner, Marzena Olesińska, Dina Zucchi, Charissa Frank, Helena J. H. van der Pal, Alexandra Benachi, Marta Mosca, Micaela Fredi, Violeta Iotova, Beverley Power, Birgit Lorenz, Holm Schneider, Rosaria Talarico, María Jesús Pascau, Wiebke Papenthin, Chiara Tani, Cecilia Nalli, João Eurico Fonseca, Diana Marinello, Giovanni Fulvio, Rachel Rimmer, Giuseppe Limongelli, Claas Röhl, Tet Yap, Simone Louisse, Maria Luisa Brandi, Andreas Dufke, Christine Rousset‐Jablonski, Dorica Dan, Dominique Sturz, Isabelle Laure Ray-Coquard, Vera Guimarães, Ignacio Blanco, Anǵela Tincani, Ana Rita Lopes, Julie De Backer, Martine Boiteux, Johanna Raidt, Ana Vieira, Silvia Aguilera, Ruth Biller, Ester Costafreda, Petra Borgards, Michela Onali, Carine JM der van Vleuten, Elisa Kilpiäinen
article en

Abstract

This study underscores the widespread need for comprehensive, patient-centred approaches in pregnancy and family planning for individuals with rare and low prevalence diseases. Improved access to specialised healthcare teams, psychological support, and clear, standardised medical information is essential. These findings advocate for the development of harmonised European policies and multidisciplinary strategies to enhance reproductive healthcare. People living with rare diseases often face extra challenges when it comes to pregnancy and family planning. To better understand these issues, a group of experts and patient representatives from 20 European Reference Networks (ERNs) worked together to conduct a survey. A European survey of 769 people, mostly women aged 31 to 40 from Germany, France, Spain, and Italy, revealed significant gaps in care. The most common concerns shared by patients included difficulty finding clear medical information, not enough psychological support, gaps in counselling, and challenges with checking on health during and after pregnancy. Many felt that better teamwork among different healthcare providers and improved education on reproductive health would make a big difference. In summary, this study underscores the urgent need for better reproductive healthcare for people with rare diseases.

Reproductive HealthVol. 22(1)
Université Claude Bernard Lyon 1 (FR), University of Pisa (IT), European Organisation for Rare Diseases (FR), Radboud University Nijmegen (NL), Medical University of Varna (BG), Vita-Salute San Raffaele University (IT), Bindura University of Science Education (ZW), Guy's and St Thomas' NHS Foundation Trust (GB), Justus-Liebig-Universität Gießen (DE), Université Paris-Saclay (FR), Hospital Universitario La Paz (ES), Ghent University Hospital (BE), Österreichischer Rundfunk (AT), College of West Anglia (GB), Radboud University Medical Center (NL), Airbus (India) (IN), Maastricht University (NL), Universitätsklinikum Erlangen (DE), Portuguese League Against Epilepsy (PT), European Research Infrastructure on Highly Pathogenic Agents (FR), Assistance Publique – Hôpitaux de Paris (FR), University Hospital Münster (DE), Sociedade Portuguesa de Cardiologia (PT), Centre Léon Bérard (FR), Radboud Institute for Molecular Life Sciences (NL), Bundesverband Glaukom-Selbsthilfe (DE), CR2O (NL), Centro Hospitalar Lisboa Norte (PT), Nierstichting (NL), Lufthansa Technical Training (Germany) (DE), Eye Center (SA), Gobierno de Chile (CL), Centre de Recherche en Cancérologie de Lyon (FR), University of Campania "Luigi Vanvitelli" (IT), South African Medical Association (ZA), Princess Máxima Center (NL), Ruhrverband (Germany) (DE), Badalona Serveis Assistencials (ES), National Institute of Geriatrics, Rheumatology and Rehabilitation (PL), Hamburg Institut (Germany) (DE), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (ES), euroCRIS (NL), Ospedale Monaldi (IT), ERN GUARD-Heart (NL), Skin Research Center (FR), Escola Superior de Saúde Ribeiro Sanches (PT), Hôpital Antoine-Béclère (FR), Hospital Universitari Germans Trias i Pujol (ES), Romanian Waters National Administration (RO), Inspiration Innovation Synergy University (IN), Digital Heritage Netherlands (NL), Usher III Initiative (US), Stichting Apotheek der Haarlemse Ziekenhuizen (NL), Maastro Clinic (NL), ERN EURO-NMD (FR), University of Brescia (IT), University of Tübingen (DE), Fairchild Semiconductor (United States) (US), Erasmus University Rotterdam (NL), University of Bologna (IT)
European Commission
Openalex Percentile: Top 62%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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