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Prenatal Rapid Aneuploidy Screen


Amniotic fluid
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Cytogenetics


Specimen Collection

EDTA

4 mL Adult EDTA Blood

Accompanying Maternal blood is required


20 mL Prenatal Fluid Collect Amniotic Fluid

Sterile Container

20 mg Prenatal Sterile Container Chorionic Villus
Turnaround Time: 2 days

Microarray and G-Banded Karyotype: (CVS and Amniotic Fluid): 14 - 21 days
Turnaround time may vary depending on sample size, gestational age and cell growth rate.
Fetal blood G-banded karyotype results are available in 3-5 days.

Chromosome Analysis - Prenatal

FISH


Assay Method

Prenatal rapid aneuploidy screening will primarily be performed by QF-PCR. FISH will be used in some instances when a result is not possible by QF-PCR.


Diagnostic Use and Interpretation

QF-PCR is a molecular technique used for diagnosis of the viable aneuploidies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), trisomy 21 (Down syndrome), and sex chromosome aneuploidy including Monosomy X (Turner syndrome). It is used for rapid detection of these aneuploidies prior to microarray analysis.
While the test shares many similarities with rapid aneuploidy FISH, QF-PCR has the added benefit of genotyping the sample and identifying maternal cell contamination.
QF-PCR will not detect copy number variants outside the markers used on chromosomes 13, 18, 21, X and Y and will not detect other genetic alterations.


Contact Information

To contact the Prenatal teams:

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Diagnostic Genetics General Enquiries ext 22008
Microarray Office ext 22011
Cytogenetics Office ext 22012
FISH Office ext 22008


Specimen Transport Instructions for Referring Laboratories

All samples must be collected using sterile technique
Same day delivery preferred
Transport samples >8 degrees Celsius to <24 degrees Celsius



Last updated at 10:50:38 06/03/2025