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Section 12 - What is a targeted chromosome analysis?

 

This laboratory test takes longer than the QF-PCR test. It is not done for higher chance screening results from the combined or quadruple test or NIPT, unless the QF-PCR result shows your baby has Down’s syndrome (T21), Edwards’ syndrome (T18) or Patau’s syndrome (T13). The laboratory will carry out a targeted analysis test on the chromosome that has been found to have a trisomy. This is to see if any other babies you may have in the future could have the condition. 

To do this test, the cells from your baby that are floating in the amniotic fluid or from the chorionic villus sampling (CVS) are grown (cultured) in the laboratory. The laboratory staff will examine the cells under a microscope to look for changes in the number and appearance of your baby’s chromosome where the trisomy has been found.

The targeted chromosome analysis will show the sex of your baby. If you do not want to know the sex of your baby, please tell your midwife or obstetrician.

The analysis will not detect:

  • changes in single genes, such as cystic fibrosis (each chromosome contains thousands of genes)
  • microdeletions (loss of small segments of a chromosome)
  • microduplications (extra small segments of a chromosome), or
  • other small changes in chromosomes.
     

Results

These results of the targeted chromosome analyses are usually ready within about three weeks.