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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