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. 2025 Mar 10;20(1):112.
doi: 10.1186/s13023-024-03435-z.

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

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

Dina Zucchi et al. Orphanet J Rare Dis. .

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.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: An ethics committee approval was not needed since the survey was completely anonymous and completed by clinicians, and patients were not recruited. The participant’s consent to the study was obtained by replying to the survey. Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
clinicians unmet needs in pregnancy and family planning in rare and low-prevalence diseases. HCPs healthcare professionals
See this image and copyright information in PMC

References

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