Introduction

People with primary ciliary dyskinesia (PCD) may have increased risk of infertility due to ciliary structure defects but there is little knowledge on the prevalence and extent of this problem. For the first time in a large dataset, we studied infertility, assisted reproductive technology (ART) use, and pregnancy outcomes in adults with PCD.

Method

We used data from COVID-PCD, the world?s largest participatory study in PCD. Adults reported their fertility status in an online questionnaire. We defined normal fertility as spontaneous conception, and infertility as failure to conceive spontaneously within 1 year or as the use of ART.

Results

180 females and 85 males participated, at a median age of 44 years (IQR 33-54). 97 had not yet tried to have a child. Among the remaining 118 females, 46 (39%) had conceived spontaneously, 41 (35%) with ART and 31 (26%) reported no conceptions, including 18 (58%) despite ART. Among 50 males, 11 (22%) had fathered spontaneously, 17 (34%) with ART and 22 (44%) reported no conceptions, including 11 (50%) despite ART. 87 females reported 194 pregnancies that resulted in 124 (63%) live births, 44 (22%) pregnancy losses, 11 (6%) abortions, and 15 (8%) ectopic pregnancies. Among the 124 live births in females with PCD, 48 (39%) were conceived with ART. 28 males reported 50 pregnancies that resulted in 39 (78%) live births of which 23 (59%) were conceived with ART.

Conclusion

Females and males with PCD frequently reported infertility, but half of those affected conceived with the help of ART. Our results suggest that females with PCD have a 4-fold increased risk of ectopic pregnancies compared with the general population.

Funding

SNSF 320030B_192804, SLA 2021-08_Pedersen, BEAT-PCD