Primary Ciliary Dyskinesia (PCD)

Key points

• Primary Ciliary Dyskinesia (PCD) is a rare inherited genetic syndrome characterised by the dysmobility or immobility of motile cilia that can affect the upper and lower airways, middle ears, sinuses, heart and reproductive systems.
• PCD has been shown to affect some minority ethnic groups more than others.
• There is currently no consensus on the management of PCD in pregnant women.
• Determining current pregnancy outcomes for PCD could enable more accurate pre-pregnancy counselling for patients.

Surveillance period

1^st November 2025 – 31^st October 2026

Background

Primary Ciliary Dyskinesia (PCD) is a rare, inherited genetic condition that impairs the function of motile cilia, which is associated with dysfunction in the middle ear, respiratory and reproductive systems. PCD can also cause cardiac and situs anomalies (abnormal arrangement of organs). PCD has been shown to disproportionally affect ethnic minority groups¹. There is no cure for PCD and current management aims to reduce symptom burden, manage chronic rhinosinusitis and hearing loss, optimise lung function and limit disease progression.

Existing case reports indicate some women with PCD may experience subfertility, resulting in the need for artificial reproductive techniques. Limited case reports describe complications when women with PCD become pregnant, including worsening respiratory status, pre-eclampsia, fetal growth restriction, and preterm birth^2,3,4.

There are no national guidelines for the condition's management in pregnancy⁵. This study will determine the incidence of the condition in the pregnant population, document the outcomes for both mother and baby/neonate and describe the treatments used.

Objective

To use the UK Obstetric Surveillance System (UKOSS) to describe the incidence and management of PCD, and the maternal and neonatal outcomes of PCD.

Research questions

• What is the incidence of PCD in pregnancy?
• What impact does pregnancy have on PCD, including number of exacerbations and hospitalisations?
• How is maternal PCD currently managed in the UK?
• What are the outcomes of PCD in pregnancy for mothers and their babies?

Case definition

All pregnant women with a diagnosis of primary ciliary dyskinesia (PCD) either prior to or during the current pregnancy who are booked for antenatal care in a UK obstetric unit.

Funding

This study is funded by NIHR.

Ethics committee approval

This study has been approved by the London Brent REC (Ref. Number: 10/H0717/20).

Investigators

Lydia Newman, Ying Cheong, Linden Stocker – Princess Anne Hospital;

Jane Lucas, Bruna Rubbo – University of Southampton

References

1. O'Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child. 2010 Jan;95(1):51-2. doi: 10.1136/adc.2009.158493
2. Lin TK, Lee RK, Su JT, Liu WY, Lin MH, Hwu YM. A successful pregnancy with in vitro fertilization and embryo transfer in an infertile woman with Kartagener's syndrome: a case report. J Assist Reprod Genet. 1998 Nov;15(10):625-7. doi: 10.1023/a:1020341629516.
3. Abu-Musa A, Nassar A, Usta I. In vitro fertilization in two patients with Kartagener's syndrome and infertility. Gynecol Obstet Invest. 2008;65(1):29-31. doi: 10.1159/000106503.
4. Zhang X, Chen D, You Y, Peng B. Successful pregnancy in patient with Kartagener's syndrome and infertility: case report and published work review. Clin Exp Obstet Gynecol 2018;45:791–793.
5. Newman L, Chopra J, Dossett C, Shepherd E, Bercusson A, Carroll M, Walker W, Lucas JS, Cheong Y. The impact of primary ciliary dyskinesia on female and male fertility: a narrative review. Hum Reprod Update. 2023 May 2;29(3):347-367. doi: 10.1093/humupd/dmad003.