Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

This article identifies the importance of the role of the fetal cardiac clinical nurse specialist in informing and supporting families through an antenatal fetal cardiac diagnosis. The model used at the Royal Brompton Hospital, London, to ensure the provision of standardised, high quality care to patients throughout their healthcare network is discussed. The challenges faced and guidance available to support such teams are also highlighted. Clinical practice models have been developed through field experience, considering guidance specifications, to direct fetal cardiology services in the provision of quality antenatal support, information and communication.

No abstract