Fertility care among people with primary ciliary dyskinesia

Schreck, Leonie D.; Goutaki, Myrofora; Jörger, Philippa; Dexter, Katie; Manion, Michele; Christin‐Maitre, Sophie; Maitre, Bernard; ,; Kuehni, Claudia E.; Pedersen, Eva S. L.

doi:10.1002/ppul.26743

Cited by 3 publications

(2 citation statements)

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“…Fertility is a topic that needs to be addressed in regular PCD care and people with PCD need to be informed about their possible increased risk of infertility ( Schreck et al , 2024 ). However, not every person with PCD is infertile, which needs to be communicated as well.…”

Section: Discussionmentioning

confidence: 99%

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Schreck,

Pedersen,

Dexter

et al. 2024

Human Reproduction Open

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STUDY QUESTION What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)? SUMMARY ANSWER We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7–12.2). 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 medically assisted reproduction (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. PARTICIPANTS/MATERIALS, SETTING, METHODS We sent a questionnaire on fertility on 12 July 2022, to all participants older than 18 years enrolled in the Living with PCD study. Responses were collected until 8 March 2023. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data were collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy. MAIN RESULTS AND THE ROLE OF CHANCE In total, 265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 39 of 50 men (78%) and 72 of 118 women (61%) were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7–12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes, e.g. all five women with a mutation in CCDC40 were infertile and all five with DNAH11 were fertile. LIMITATIONS, REASONS FOR CAUTION The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports owing to the anonymous study design, which is likely to lead to recall bias. WIDER IMPLICATIONS OF THE FINDINGS The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm an intrauterine pregnancy. Fertility, efficacy of MAR, and risk for adverse pregnancy outcomes differ between people with PCD—depending on genotypes—and close monitoring and support might be needed from fertility specialists to increase chances of successful conception. STUDY FUNDING/COMPETING INTEREST(S) Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, USA; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, UK; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. The study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest. TRIAL REGISTRATION NUMBER ClinicalTrials.gov ID NCT04602481.

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Section: Discussionmentioning

confidence: 99%

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Schreck,

Pedersen,

Dexter

et al. 2024

Human Reproduction Open

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“…Fer�lity is a topic that needs to be addressed in regular PCD care and people with PCD need to be informed about their possible increased risk of infer�lity (Schreck et al, 2024). However, not every person with PCD is infer�le, which needs to be communicated as well.…”

Section: Interpreta�on and Implica�on For Future Researchmentioning

confidence: 99%

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Schreck,

Pedersen,

Dexter

et al. 2024

Preprint

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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 theLiving with PCDstudy (formerly COVID-PCD).Living with PCDis 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 theLiving with PCDstudy.Participants/materials, setting, methods:We sent a questionnaire on fertility on July 12, 2022, to all participants older than 18 years enrolled in theLiving with PCDstudy. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data was collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy (Zegers-Hochschild et al., 2017).Main results and the role of chance:265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 72 (61%) women and 39 (78%) men were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7-12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes e.g. all 5 women with a mutation in CCDC40 were infertile and all 5 with DNAH11 were fertile.Limitations, reasons for caution:The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports due to the anonymous study design, which is likely to lead to recall bias.Wider implications of the findings:The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm intrauterine pregnancy. Fertility, efficacy of MAR and risk for adverse pregnancy outcomes differ between people with PCD—depending on genotypes—, and close monitoring and support might be needed from fertility specialist to increase chances of successful conception.Study funding/competing interest(s):Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804/1), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, United States; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, United Kingdom; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. Study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest.Trial registration number:ClinicalTrials.gov IDNCT04602481

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Pediatric Pulmonology 2023 year in review: Rare and diffuse lung disease

Hinds,

Nevel,

Liptzin

et al. 2024

Pediatric Pulmonology

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The field of pediatric rare and diffuse lung disease continues its maturation as research advances the understanding of diagnosis and treatment of children's interstitial lung disease, noncystic fibrosis bronchiectasis, and primary ciliary dyskinesia. The rarity and breadth of these conditions make them challenging to study, yet we continue to make progress in our understanding of pathophysiology, genotype/phenotype relationships, and treatment. Papers published on these topics in Pediatric Pulmonology and other journals in 2023 describe the power of multicenter cooperation and patient registries, enhance our understanding of pathophysiology and genotype/phenotype relationships, and report progress in treatments. In this review, we hope to increase awareness and knowledge of these conditions and to inspire future research.

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Fertility care among people with primary ciliary dyskinesia

Cited by 3 publications

References 31 publications

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia

Pediatric Pulmonology 2023 year in review: Rare and diffuse lung disease

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