Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: resultsof the “ERN transversal working group on pregnancy and family planning” survey
The ERN transversal working group on pregnancy and family planning conducted a survey among patients and caregivers of people living with a rare disease. The survey in original English language was co-designed by healthcare professionals and patient representatives from 20 European Reference Networks or ERNs (European expert centers for rare diseases) including ERN GUARD-Heart, the ERN for rare heart diseases, and was translated into 8 other European languages. It asked questions about unmet needs and challenges for rare disease patients when it comes to pregnancy and family planning. Various domains were covered, including fertility preservation (e.g. during cancer treatment), family planning (e.g. contraception, i.e. which would be the best way for a rare disease patient to prevent a pregnancy or what time would be the best to become pregnant in relation to the rare disease activity), pre-conceptional counselling (e.g. awareness of risks and the risk of passing on a genetic disease to the child), pre-implantation and prenatal diagnosis (testing whether the unborn child has inherited a genetic predisposition from one of its parents before or in early pregnancy), pregnancy itself, delivery (e.g. the way of delivery, spontaneous/vaginal, induced labour, or a planned caesarean section), monitoring of the disease after delivery, newborn management and lactation counselling (e.g. possible risks to the baby from the medication that the mother has to take because of her rare condition) as well as psychological support.
The most common concerns shared by all rare disease patients, independent of the specific disease or the country, included difficulty finding clear medical information, getting access to specialized health care professionals, a lack of psychological support, gaps in counselling and education, and challenges with checking on health during and after pregnancy. Many felt that better teamwork among different healthcare providers (especially between rare disease experts, gynaecologists, obstetricians, midwives and mental health professionals) and improved education on reproductive health would make a big difference. In summary, this study underscores the urgent need for equitable access to better healthcare, multidisciplinary teams, and psychosocial support in all matters concerning pregnancy and family planning in patients with rare diseases.
Fulvio G, Marinello D, Zucchi D, Aguilera S, Benachi A, Biller R, Blanco I, Boiteux MC, Borgards P, Brandi ML, Costafreda E, FonsecaJE, Fredi M, Guimarães V, Iotova V, Lecointe-Artzner E, Lopes AR, Louisse S, Nalli C, Olesinska M, Onali M, Papenthin W, Power B,Röhl C, Rousset-Jablonski C, Sturz D, Tincani A, van Vleuten CJ, Vieira A, Dan D, Backer J, Smulders CD, Dufke A, Frank C, LimongelliG, Lorenz B, Kilpiäinen E, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Schneider H, Van Pal HJ, Yap T, Talarico R, Tani C, Mosca M.
Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: resultsof the “ERN transversal working group on pregnancy and family planning” survey. Reprod Health. 2025 Nov 25;22(1):240.doi: 10.1186/s12978-025-02136-5. PMID: 41291857.
https://doi.org/10.1186/s12978-025-02136-5
Prepared by Ruth Biller