TY - JOUR
T1 - Pregnancy-related issues in rare and low-prevalence diseases
T2 - results of ERN transversal working group on pregnancy and family planning survey
AU - Zucchi, Dina
AU - Marinello, Diana
AU - Tani, Chiara
AU - Fulvio, Giovanni
AU - Aguilera, Silvia
AU - Benachi, Alexandra
AU - Biller, Ruth
AU - Blanco, Ignacio
AU - Borgards, Petra
AU - Boiteux, Marie-Claude
AU - Brandi, Maria Luisa
AU - Costafreda, Ester
AU - Fonseca, Joao E
AU - Fredi, Micaela
AU - Iotova, Violeta
AU - Louisse, Simone
AU - Nalli, Cecilia
AU - Onali, Michela
AU - Power, Beverley
AU - Rousset-Jablonski, Christine
AU - Sturz, Dominique
AU - Tincani, Angela
AU - Vieira, Ana
AU - Capela, Susana
AU - Dan, Dorica
AU - De Backer, Julie
AU - de Die-Smulders, Christine
AU - Dufke, Andreas
AU - Artzner, Estelle Lecointe
AU - Limongelli, Giuseppe
AU - Lorenz, Birgit
AU - Papenthin, Wiebke
AU - Pascau, María Jesús
AU - Raidt, Johanna
AU - Ray-Coquard, Isabelle
AU - Rimmer, Rachel
AU - Röhl, Claas
AU - Schneider, Holm
AU - Yap, Tet
AU - Talarico, Rosaria
AU - Mosca, Marta
PY - 2025/3/10
Y1 - 2025/3/10
N2 - 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.
AB - 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.
KW - Pregnancy-related issues
KW - Rare diseases
KW - Unmet needs
KW - Humans
KW - Female
KW - Pregnancy
KW - Rare Diseases
KW - Family Planning Services
KW - Surveys and Questionnaires
KW - Pregnancy Complications
KW - Adult
U2 - 10.1186/s13023-024-03435-z
DO - 10.1186/s13023-024-03435-z
M3 - Article
SN - 1750-1172
VL - 20
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 112
ER -