Results procedure and interpretation of results

Results are normally available within 24-48 hours of receipt of sample. The following abnormalities are detectable by Amnio-PCR:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Triploidy
  • Sex chromosome aneuploidy

If required, single gene defects such as the most common cystic fibrosis mutation p.F508del can be detected.

Results are faxed or posted to a named member of the antenatal team in the format outlined below. Our genetics team provide a full advisory service for health professionals regarding genetic services in general or to assist with the interpretation of an individual's specific results as appropriate.