Orphanet J Rare Dis

. 2025 Mar 10;20(1):112.

 doi: 10.1186/s13023-024-03435-z. https://pubmed.ncbi.nlm.nih.gov/40065363/

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey

Dina Zucchi ^# 1 2, Diana Marinello ^# 1, Chiara Tani ¹, Giovanni Fulvio ¹, Silvia Aguilera ³, Alexandra Benachi ⁴, Ruth Biller ^5 6, Ignacio Blanco ⁷, Petra Borgards ⁸, Marie-Claude Boiteux ⁹, Maria Luisa Brandi ¹⁰, Ester Costafreda ¹¹, Joao E Fonseca ^12 13, Micaela Fredi ¹⁴, Violeta Iotova ¹⁵, Simone Louisse ⁵, Cecilia Nalli ¹⁴, Michela Onali ¹⁶, Beverley Power ¹⁷, Christine Rousset-Jablonski ^18 19, Dominique Sturz ²⁰, Angela Tincani ¹⁴, Ana Vieira ²¹, Susana Capela ^12 13, Dorica Dan ²², Julie De Backer ²³, Christine de Die-Smulders ²⁴, Andreas Dufke ^25 26, Estelle Lecointe Artzner ²⁷, Giuseppe Limongelli ²⁸, Birgit Lorenz ²⁰, Wiebke Papenthin ²⁹, María Jesús Pascau ³⁰, Johanna Raidt ³¹, Isabelle Ray-Coquard ³², Rachel Rimmer ³³, Claas Röhl ³⁴, Holm Schneider ³⁵, Tet Yap ³⁶, Rosaria Talarico ¹, Marta Mosca ³⁷

Affiliations Expand

• PMID: 40065363
• PMCID: PMC11892229
• DOI: 10.1186/s13023-024-03435-z

Abstract

Background: Rare and complex diseases can have a significant impact on family life, and managing the reproductive aspects of patients of childbearing age with rare diseases is often difficult and complex. A European Reference Network (ERN) Transversal Working Group (WG) on Pregnancy and Family Planning was created to join forces to promote and address issues on these topics in rare and low-prevalence diseases.

Objective: To outline the challenges and the good practices related to pregnancy and family planning in rare and complex diseases for healthcare professionals (HCPs).

Methods: A survey on state of the art and unmet needs was created by a co-design group of both clinicians and patients’ representatives from 20 ERNs. The survey was uploaded in English on the online platform “EU Survey” and disseminated by respective ERNs and learned societies. Seven transversal domains were explored in the survey by using closed and open-ended questions: fertility preservation, pre-conceptional counselling, family planning counselling, pre-implantation diagnosis, prenatal diagnosis, pregnancy monitoring and post pregnancy monitoring, lactation monitoring/counselling and newborn management. The questions investigated for each topic were the following: level of importance, activities performed by the centre, clinical challenges, good practice and educational activities.

Results: A total of 197 answers were collected from 24 different countries. Unmet needs for HCPs included: the need to improve communication between different HCPs, the lack of predefined organizational pathways, the lack of availability of expert HCPs for some pregnancy-related issues and the need to streamline the care provided among different countries. In addition, the survey underlined the need to improve the educational activities provided to rare disease patients.

Conclusions: Physicians and patients need to be educated on the emerged unmet needs in order to standardize the information for both HCPs and patients with rare diseases. Educational activities should be considered to help to disseminate information.

Keywords: Pregnancy-related issues; Rare diseases; Unmet needs.

© 2025. The Author(s).