About

Amniotic fluid sample

  • Full karyotype to be reported within 10 to 17 days.

Chorionic villus sampling (CVS)

  • Full karyotype to be reported within 10 to 17 days.

Rapid fluorescence in-situ hybridisation (FISH) on interphase nuclei

  • available on amniotic fluid and CVS samples

  • to be reported within 24-72 hours.

For the following high-risk referrals, a rapid test to detect specific trisomies is available:

  • serum screening, maternal age, or nuchal translucency screening risk of 1:30 or higher

  • abnormal ultrasound that is strongly suggestive of aneuploidy

  • previous pregnancy that had a confirmed trisomy 13, 18 or 21.

This test is available for specific chromosomes (eg chromosome 21 probe), or for chromosomes 13, 18, 21, X and Y inclusive.

Please indicate on the referral card which FISH probe test is required.

Please note that this test is carried out on uncultured interphase cells and provides information on only the copy number of the chromosome targeted by the FISH probe. This test does not exclude other chromosome abnormalities or mosaicism.