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Oxford University Hospitals NHS Foundation Trust

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Prenatal sample information

Indications

  • Abnormal scan
  • High risk from screening test
  • Parent known carrier of chromosome rearrangement
  • Previous pregnancy indicating increased risk for chromosome abnormality
  • Invasive procedure for another test (e.g. biochemical or molecular genetic)

Investigations

  • Karyotyping (detection of numerical and large structural abnormalities)
  • Rapid aneuploidy 13, 18 or 21 screening by QF-PCR
  • Rapid sex chromosome screening by FISH indicated by cystic hygroma on scan
  • Array CGH (NT >3.5mm or appropriate structural abnormalities detected on USS)

Sample type: Amniotic fluid (AF), chorionic villi (CVS), fetal blood

Sample container / storage / transport information and referral card (pdf)

Turnaround time

Turnaround times for testing have been specified by NHS England

However please note that prenatal karyotyping requires long term cell culture before analysis and therefore turnaround time is affected by small sample size and cell compromise such as undue heat or transport delays.

Service Agreement

By sending a sample, accompanied by a completed laboratory referral form, the user enters into an agreement for the Genetics Laboratory to provide the service or test requested and agrees to the terms and conditions.

Last updated: 10-Aug-2020 by Claire Scott