PCD before birth: scans and genetic counselling
What antenatal findings can mean, and how inheritance works.
Antenatal scan findings
• Situs inversus totalis or dextrocardia may be detected during pregnancy scans.
• These findings can prompt further fetal heart scans to assess for heart defects.
• After birth, referral to a specialist PCD diagnostic centre may be recommended to rule out PCD (other causes are more common).
How PCD is inherited (autosomal recessive)
A child typically needs to inherit a PCD-related gene change from both parents to have PCD. People with one copy are carriers.
• If both parents are carriers: 1 in 4 chance the child has PCD
• 1 in 2 chance the child is a carrier (no PCD)
• 1 in 4 chance the child inherits neither gene change
Genetic testing
Many genes can cause PCD, and research is still identifying new ones. Specialist genetic testing may be offered through genetics services.
This fact sheet provides general information only and is not medical advice. Always follow guidance from your respiratory/ENT/physiotherapy team.
