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Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

L. Schreck, E. S. Pedersen, K. Dexter, M. Manion, Living With Pcd Patient Advisory Group, N. Massin, B. Maître, M. Goutaki et al.

medRxiv, 2024

482 participants · 4 citations

Abstract

Study question: What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD), to what extent do they benefit from medically assisted reproduction (MAR), and how does fertility differ by affected PCD gene? Summary answer: We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile. MAR was effective in infertile individuals, with around two-thirds of them successfully conceiving with MAR. Women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.2). Our results suggest that fertility status in PCD differs by affected PCD gene. What is known already: PCD is a heterogeneous multiorgan disease caused by mutations in genes required for the function and structure of motile cilia. Previous studies identified a link between PCD and infertility, but original data on prevalence of infertility and risk of ectopic pregnancies, the use and efficacy of MAR and the association of fertility with PCD genotype, are extremely limited. Study design, size, duration: We performed a cross-sectional survey about fertility within the Living with PCD study (formerly COVID-PCD). Living with PCD is an international, online, participatory study that collects information directly from people with PCD. People with PCD of any age from anywhere in the world can participate in the study. At the time of the survey, 482 adults with PCD were registered within the Living with PCD study.…

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