INFORMATION FOR HEALTHCARE PROFESSIONALS
Summary: what is amnio-PCR?

Amnio-PCR is a revolutionary, rapid prenatal diagnostic screen based on molecular DNA techniques.

Amnio-PCR has been pioneered and developed by the Cytogenetic DNA Services Ltd, part of the genetics division of the Doctors Laboratory.

Amnio-PCR is a new, rapid diagnosis of the most common chromosome abnormalities using the polymerase chain reaction (PCR) technique. Using a small sample of amniotic fluid, PCR amplifies and enables quantification of specific regions of the DNA molecule from uncultured amniocytes providing a definitive result within 48 hours.
 

Aims & Advantages of Amnio-PCR

  Aims
  • To provide a rapid (48 hours) and reliable antenatal diagnosis of the most common chromosome abnormalities likely to result in birth defect.
  • To avoid the time delay associated with tissue culture.
  • To minimise maternal anxiety.
  • To benefit clinical management at an earlier stage of pregnancy.
  Advantages
  • Low volumes of amniotic fluid required.
  • Applicable to pregnancies from 12 to 34 weeks gestation.
  • Definitive results of major defects within 48 hours.
  • Rapid diagnosis of the most common chromosome abnormalities.
  • Single gene defects such as the most common cystic fibrosis mutation p.F508del can be detected, if required.