percept is a non-invasive prenatal screening test (NIPT) for chromosome conditions.
NIPT is a blood test that looks at small pieces of DNA from your pregnancy. These pieces are found in your blood by the time you are 10 weeks pregnant. By looking at these pieces of DNA, percept NIPT can tell you if there’s an increased chance that your pregnancy may have a chromosome condition, such as Down syndrome.
percept NIPT looks at all 23 pairs of chromosomes, meaning it screens for many chromosome conditions.
When can I have percept NIPT?
You can have percept any time from 10 weeks of pregnancy. Results are usually available within 3-5 days from the time the laboratory receives your sample.
percept NIPT is $449 for Australian patients. NIPT is not covered by Medicare or private health insurance.
We offer comprehensive information and support for anyone having percept NIPT. Our clinical support team, including our genetic counsellors, are available to speak to you before testing, or after receiving your results.
A non-invasive prenatal test (NIPT) is the most accurate type of prenatal screening test for chromosome conditions, such as Down syndrome (when compared to other screening tests such as maternal serum screening). It looks at small pieces of DNA (genetic material) found in maternal blood. This DNA is released from the placenta as your baby grows.
What is a chromosome?
A chromosome is a structure that carries the DNA we inherit from our parents. For typical development, humans need 23 pairs of chromosomes, or 46 in total (this is called our genome). Normal growth and development can be affected when there are more than 46, less than 46, or when some chromosomes have extra or missing pieces.
Screening test versus diagnostic test
It is important to note that NIPT is a screening test. This means it does not provide you with a definite yes or no answer. It gives an estimate of the chance your pregnancy has a chromosome condition being screened for. To confirm an increased chance result from NIPT during pregnancy, a diagnostic test is needed. This requires either a chorionic villus sampling (CVS) or amniocentesis procedure.
percept NIPT looks for conditions across all 23 pairs of chromosomes. This includes:
- The three most common chromosome conditions seen in pregnancy - Down syndrome, Edwards syndrome and Patau syndrome.
- Conditions caused by changes to the number of other chromosomes.
- Conditions caused by missing or extra pieces of chromosomes.
- Sex chromosome conditions caused by changes to the number of X and Y chromosomes. Testing of these chromosomes can also identify the sex of your baby.
Read more about these conditions.
Step 1: Discuss percept NIPT with your doctor. If appropriate, they will complete a test request form.
Step 2: Have your blood collected for testing after 10 weeks of pregnancy.
Note that a specific blood tube is required for percept, so you need to attend one of our affiliated collection sites.
If there is no site near you, contact us and we’ll arrange collection.
Step 3: Most results will be available from your doctor 3-5 working days after the laboratory receives your sample. Your doctor will contact you with your test results. VCGS is unable to give your results directly to you.
Talk to us!
Comprehensive information and support is freely available with percept NIPT. We are available to answer all of your questions.
P: (03) 9936 6402
E: [email protected]
How does NIPT work?
As a baby grows, the placenta releases small fragments of DNA known as ‘cell-free fetal DNA’ (cfDNA) into the maternal bloodstream. Maternal cell-free DNA is also present in the bloodstream. Advanced genetic technology is able to read the genetic information from both the fetal and maternal DNA.
This genetic information can then be traced to the chromosome it came from. If the pregnancy is affected by a chromosome condition, there will be an increase or decrease in the number of DNA sequence reads for that particular chromosome. For example, if the baby has Down syndrome, (an extra copy of chromosome 21), there will be an increase in the number of sequence reads from chromosome 21.
What’s the difference between maternal serum screening and non-invasive prenatal testing (NIPT)? Do I need both?
NIPT is a more accurate type of screening test for Down syndrome, when compared to maternal serum screening. However, NIPT is more expensive and is not covered by Medicare or private health insurance. Maternal serum screening is a very good screening test which is less expensive and partially covered by Medicare.
Both tests estimate the chance that a baby has Down syndrome or Edwards syndrome. NIPT can also provide information about Patau syndrome and sex chromosome conditions. Maternal serum screening provides additional detail about the chance of pre-eclampsia (a serious condition during pregnancy) or the baby having a neural tube defect like spina bifida (second trimester screening only).
Some women choose to have maternal serum screening as their first test and then follow up with NIPT only if they receive a ‘screen positive’ result. Others choose to have both maternal serum screening and NIPT in combination or in some cases, they choose to only have NIPT. If NIPT has been used as the first test, we generally do not recommend having maternal serum screening as well. We also recommend all women have a 12 week ultrasound scan as this provides information about the structural development of the baby.
What do my results mean?
percept screening results are reported as:
Most results will be low risk. This means it is very unlikely the pregnancy is affected by one of the specific conditions screened for. There is always the chance that the result is a ‘false negative’, but this is very rare (1 in 10,000 tests). Low risk does not mean ‘no risk’. Other conditions not identified by NIPT may be present.
High risk (increased chance)
A high risk result does not mean the pregnancy is definitely affected by a particular condition. It means there is an increased chance. There is always a possibility that the screening result was a ‘false positive’ so in order to confirm the result or to reassure the pregnancy is not affected, diagnostic testing will be offered.
percept test failure rates are very low (<0.2%). If no result is given, the laboratory will request a repeat sample for testing at no additional charge to the patient.
What happens if I receive a high risk percept result?
Receiving a high risk result does not mean your pregnancy is definitely affected by a particular condition; it means there is an increased chance. In this case, a VCGS genetic counsellor will contact your referring doctor to discuss further testing options, such as diagnostic testing (using a CVS or amniocentesis).
Remember, screening tests do not provide a definitive (yes or no) answer. Diagnostic testing is the only way to confirm the presence of a condition or to reassure a pregnancy is not affected.
Can percept be used for twin/IVF/donor pregnancies?
Please contact VCGS if you are caring for a triplet pregnancy as some acceptance criteria must be met prior to having your blood collected.
I wish to speak to a scientist or counsellor about percept.
If you have questions about your screening options or are not sure whether percept is right for you, please contact one of our genetic counsellors: +61 3 9936 6402.
How do I pay?
Payment is made by providing credit card details at the time of completing the request slip. The fee is charged to the patient’s credit card prior to the result being released. If the test fails and the patient does not want to proceed with a repeat test, the full fee is reimbursed. If a repeat sample is taken, only the single test fee is charged.