People with primary ciliary dyskinesia (PCD) are being asked to share their experiences of fertility and pregnancy in a national questionnaire and interview study, the first of its kind in the UK. PCD is a genetic condition that affects tiny hair-like structures called cilia, which line the airways and reproductive tract. This can cause lung problems, but also increases the risk of infertility and may lead to complications during pregnancy. Currently, patients and their doctors lack reliable information about these risks, making it difficult to plan families or provide appropriate care. The research will link questionnaire responses with genetic data from 120 adults to see if specific gene variants are linked to reproductive outcomes. A separate nationwide surveillance system will collect clinical data on pregnancies in women with PCD to quantify risks such as ectopic pregnancy. If the study confirms a higher risk of ectopic pregnancy, it could justify earlier pregnancy scans for these women. The final phase will co-develop an online learning resource for patients and clinicians, using the study’s findings to improve counselling and informed decision-making.
View original technical description
Research question: What are the reproductive outcomes for people with primary ciliary dyskinesia (PCD), and can provision of targeted information improve education and awareness amongst patients and medical professionals? Background: PCD is a genetic condition which is associated with increased risk of fertility problems and may be associated with adverse pregnancy outcomes. Research is needed to facilitate informed reproductive choice and optimise care by gaining more information about fertility and pregnancy outcomes for people affected by PCD. Aim: To increase the understanding of reproductive and pregnancy outcomes associated with PCD and create resource interventions for patients and healthcare professionals. Methodology: WP1: Explore the lived experiences and personal impact of reproductive problems amongst people with PCD A national questionnaire-based study will be completed in adults with PCD (n = 120). Qualitative interviews will be conducted with men and women with PCD to explore their experiences of fertility (n = 30). Interviews will be transcribed, and thematic analysis will be performed. WP2: Decipher whether genotypes are associated with reproductive outcomes in PCD Participant response data from WP1 will be linked with respective clinical data including genotype from the national registry or hospital electronic records (n = 120). The association between individual risk factors and reproductive outcomes amongst patients with PCD will be explored with statistical modelling. WP3: Determine whether PCD is associated with adverse pregnancy outcomes I will use the well-established UK Obstetrics Surveillance System (UKOSS) to collect verified clinical data on pregnancy and obstetric outcomes in women with PCD from hospitals across the UK. The association between PCD and adverse pregnancy outcomes will be explored and quantified with statistical modelling. WP4: Develop and implement a resource for patients and clinicians about fertility, pregnancy and PCD Workshops will be conducted with patients and clinicians to co-develop and evaluate an online learning resource for patients and medical professionals utilising the results of WP1-3 which will be evaluated by these groups prior to dissemination for public use. Timelines for delivery: Multiple elements of this study will be performed simultaneously. WP1, WP2, and WP3 will be completed in years 1-2, whilst WP4 will be completed in year 3 to permit incorporation of key study findings from the previous work. Anticipated impact and dissemination: This study design and collaboration, developed with the input of people living with PCD and healthcare professionals, offers a unique opportunity to address critical research priorities and knowledge gaps. The findings will enhance patient education and informed decision-making by providing more accurate counselling on the likelihood of fertility problems and pregnancy complications. If the study confirms an increased risk of ectopic pregnancy, it could influence clinical practice by justifying earlier pregnancy scans for this patient group. Additionally, this project will produce resources to raise awareness and knowledge among patients and their clinicians.
Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.
Is something wrong? Let us know