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

被引：0

作者：

Zucchi, Dina ^{[1
,2
]}

Marinello, Diana ^{[1
]}

Tani, Chiara ^{[1
]}

Fulvio, Giovanni ^{[1
]}

Aguilera, Silvia ^{[3
]}

Benachi, Alexandra ^{[4
]}

Biller, Ruth ^{[5
,6
]}

Blanco, Ignacio ^{[7
]}

Borgards, Petra ^{[8
]}

Boiteux, Marie-Claude ^{[9
]}

Brandi, Maria Luisa ^{[10
]}

Costafreda, Ester ^{[11
]}

Fonseca, Joao E. ^{[12
,13
]}

Fredi, Micaela ^{[14
]}

Iotova, Violeta ^{[15
]}

Louisse, Simone ^{[5
]}

Nalli, Cecilia ^{[14
]}

Onali, Michela ^{[16
]}

Power, Beverley ^{[17
]}

Rousset-Jablonski, Christine ^{[18
,19
]}

Sturz, Dominique ^{[20
]}

Tincani, Angela ^{[14
]}

Vieira, Ana ^{[21
]}

Capela, Susana ^{[12
,13
]}

Dan, Dorica ^{[22
]}

De Backer, Julie ^{[23
]}

de Die-Smulders, Christine ^{[24
]}

Dufke, Andreas ^{[25
,26
]}

Artzner, Estelle Lecointe ^{[27
]}

Limongelli, Giuseppe ^{[28
]}

Lorenz, Birgit ^{[20
]}

Papenthin, Wiebke ^{[29
]}

Pascau, Maria Jesus ^{[30
]}

Raidt, Johanna ^{[31
]}

Ray-Coquard, Isabelle ^{[32
]}

Rimmer, Rachel ^{[33
]}

Roehl, Claas ^{[34
]}

Schneider, Holm ^{[35
]}

Yap, Tet ^{[36
]}

Talarico, Rosaria ^{[1
]}

Mosca, Marta ^{[1
]}

机构：

[1] Univ Pisa, Dept Clin & Expt Med, Rheumatol Unit, Via Roma 67, I-56126 Pisa, Italy

[2] Univ Siena, Dept Med Biotechnol, Siena, Italy

[3] Hosp Clin Barcelona, Reference Ctr UEC CSUR Catalan & Spanish Hlth Syst, Dept Autoimmune Dis, ERN ReCONNET, Barcelona, Catalonia, Spain

[4] Univ Paris Saclay, Serv Gynecol Obstet, Hop Antoine Beclere, AP HP, Clamart, France

[5] ERN GUARD Heart, Amsterdam, Netherlands

[6] ARVC Selbsthilfe eV, Patient Assoc, Munich, Germany

[7] Hosp Badalona Germans Trias & Pujol, Pathol, Badalona, Spain

[8] Rothschild Fdn Hosp, Clin Res Ctr Coordinator, F-75019 Paris, France

[9] Gen Coordinat ERN SKIN, Paris, France

[10] Univ V Salute San Raffaele, Milan, Italy

[11] IRCCS, ERN GUARD HEART Bambino Gesu Hosp & Res Inst, Rome, Italy

[12] Ctr Hosp Univ Lisboa Norte, Dept Obstet & Gynaecol, Lisbon, Portugal

[13] Univ Lisbon, Fac Med, Ctr Academ Med Lisboa, Inst Med Mol, Lisbon, Portugal

[14] Univ Brescia, Dept Clin & Expt Sci, Rheumatol & Clin Immunol, ASST Spedali Civili Brescia, Brescia, Italy

[15] UMHAT St Marina, Varna, Bulgaria

[16] ERN EURO NMD, Neuromuscular Reference Ctr, Paris, France

[17] CDH UK The Congenital Diaphragmat Hernia Char, Management Comm, Kings Lynn, England

[18] Leon Berard Canc Ctr, Dept Surg, Lyon, France

[19] Res Healthcare Performance RESHAPE, INSERM U1290, F-69373 Lyon, France

[20] Hop Univ Strasbourg, ERN EYE Coordinat Ctr, Strasbourg, France

[21] Liga Portuguesa Doencas Reumat, Lisbon, Portugal

[22] Rothschild Fdn Hosp, Clin Res Ctr Coordinator, F-75019 Paris, France

[23] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[24] Maastricht Univ, Sch Oncol & Reprod, GROW, Maastricht, Netherlands

[25] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[26] Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany

[27] Sarcoma Patients Advocacy Global Network SPAGN, Wolfersheim, Germany

[28] Univ Campania Luigi Vanvitelli, AO Colli Monaldi Hosp ERN Guard Heart, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, I-80131 Naples, Italy

[29] TMS Divers Equ & Inclus Comm, Race & Ethnic Working Grp, Pittsburgh, PA 15237 USA

[30] La Paz Univ Hosp, Intestinal Rehabil Unit, Pediat Gastroenterol & Nutr Unit, ERN TransplantChild, Madrid, Spain

[31] Univ Hosp Muenster, Dept Gen Pediat, Metab Dis, D-48149 Munster, Germany

[32] Univ Claude Bernard Lyon I, Fac Med Lyon Est, Ctr Leon Berard, INSERM 1052,CNRS 5286, F-69008 Lyon, France

[33] Univ Med Ctr Utrecht, Julius Ctr, Utrecht, Netherlands

[34] NF Kinder, Vienna, Austria

[35] Univ Hosp Erlangen, DZI, Erlangen, Germany

[36] Guys & St ThomasNHS Fdn Trust, London, England

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2025年 / 20卷 / 01期

关键词：

Rare diseases; Pregnancy-related issues; Unmet needs;

D O I：

10.1186/s13023-024-03435-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.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.

引用

页数：7

共 11 条

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