ArticleOrphanet journal of rare diseases2025
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).European journal of human genetics : EJHG · 2026Guideline
- Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysis.Orphanet journal of rare diseases · 2026Article
- Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study.Acta dermato-venereologica · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- 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.Reproductive health · 2025Article
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41 authors.
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Abstract
backgroundRare 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.
objectiveTo outline the challenges and the good practices related to pregnancy and family planning in rare and complex diseases for healthcare professionals (HCPs).
methodsA 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.
resultsA 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.
conclusionsPhysicians 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.
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