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RAPID ANEUPLOIDY SCREENING, WITH FLUORESCENCE IN SITU HYBRIDIZATION TEST

Synonym(s):

​FISH ANEUPLOIDY

Lab Section Category

Description

Indications

​- Advanced maternal age (≥35 years at EDD)
- Abnormal ultrasound findings
- Positive maternal serum screening
- Previous history of chromosome abnormality
- Family history of Down syndrome
- Parental anxiety

Specimen Required

​Amniotic fluid (3ml), chorionic villi (5mg), or fetal cord blood/neonate blood (1.0ml)

Storage and Transport

Method

​FISH assay using LSI 13 and 21, and CEP X, Y, and 18 DNA probes labelled with fluorophores and analysed under fluorescence microscopy.

Test Results

​Normal or Abnormal. If Abnormal, the abnormality is described in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2016).

Reference Interval / Value

​Individuals with a trisomy will show three copies of a particular DNA probe. Normal individuals will show two copies of each DNA probe. Females will show two copies of the X probe, males one copy of the X and Y probe each.

Turnaround Time

​1 ~ 3 days

Day(s) Test Set up

​Monday – Friday (office hours)

Remarks

​This FISH test is usually requested in conjunction with conventional cytogenetic studies.

Change History Notes

Others

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