Albinism, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome, Cutis Laxa, Ectodermal Dysplasia, Epidermolysis Bullosa, Ichthyosis, Palmoplantar Keratoses, Quality of Life, Tuberous Sclerosis
Conditions
Brief summary
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.
Interventions
OTHERQualitative interview
Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.
Sponsors
Maastricht University Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children * Patients with clinically and molecularly confirmed variant of a genodermatosis * Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)
Exclusion criteria
* Not being able to communicate verbally in Dutch or English
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making | 1 day | Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options. |
Countries
Netherlands
Contacts
Primary ContactFauve C van Veen, MD
Outcome results
None listed