Cytogenetics
A complete range of cytogenetic services for prenatal diagnosis and postnatal analysis
The cytogenetics laboratory at Healthscope Pathology provides a comprehensive constitutional cytogenetics service. Sue Dale, the head of the laboratory, has more than 30 years experience and is a Fellow of the Human Genetics Society of Australasia (Cytogenetics).
The laboratory is staffed by highly skilled, experienced cytogenetic scientists. Our team has in-depth knowledge of cytogenetic and fluorescence in situ hybridisation (FISH) analyses and takes pride in providing the highest quality of service to our customers.
We currently perform cytogenetic testing on amniocentesis samples, chorionic villi samples (CVS), products of conception, peripheral blood and tissue biopsy.
Chromosome Studies
Chromosome studies are an important laboratory diagnostic procedure in certain patients with intellectual or developmental delay of unknown etiology, unexplained minor or major malformations, abnormalities of growth or sexual development and in individuals with apparent infertility or recurrent pregnancy loss. Chromosome analysis on prenatal specimens is warranted in pregnancies with a higher Down syndrome risk (due to age or high risk serum screening), when foetal abnormalities have been found on ultrasound, or when there is a known parental chromosome rearrangement. Results of chromosome analysis on prenatal specimens are available within 10 to 14 days while results from peripheral blood can take 4-6 weeks.
Fluorescence in situ Hybridisation (FISH)
FISH is used as an adjunct to conventional cytogenetic analysis and provides a rapid screen for the most common numerical chromosome abnormalities observed in the newborn: trisomy 13, trisomy 18, trisomy 21 and aneuploidy for X or Y. Because these studies are performed on uncultured cells, results are available within 1 – 2 working days.
Priority for urgent cases
We appreciate that waiting for the results of chromosome analysis is a very anxious time, so priority is routinely given to cases in the following patient categories:
- Abnormal ultrasound or maternal serum screening results
- Late gestational age (>18 weeks)
- Pregnant patient with family history of chromosomal abnormality
- Parents of a chromosomally abnormal foetus
- Newborn with phenotypic abnormality