Interpreting Results

CF and SMA

There are two possible outcomes when being tested for CF or SMA. Screening results may indicate your patient is either:

  • A CARRIER: This means the test has identified that the patient carries a change in a copy of the CF or SMA gene. If this occurs, then testing of the patient’s partner for this condition(s) is recommended to further clarify the risk of having a child affected by that condition. 
  • A NON-CARRIER: This means that the patient was not found to carry any of the common gene changes tested for. Negative results can significantly reduce the risk of having an affected child with those conditions. 

Fragile X Syndrome (FXS)

The table below shows the four different types of test results from FXS carrier screening based on the number of CGG repeats detected.

Women with repeats within the normal range are not at increased risk of having a child affected with FXS. Women in the intermediate or premutation range are not affected by FXS (although they may present with clinical disorders), and they may pass on the risk to future generations or be at increased risk of having children affected by FXS. Women with repeats in the full mutation range are at increased risk of having children affected with FXS and should be offered a referral to a clinical geneticist or genetic counsellor for expert advice.

If you require additional information about testing or need to discuss a patient, please contact:
Assoc. Prof. Mirette Saad on P: (03) 9538 6777 or E: