The Non-Invasive Perinatal Test (NIPT) is used to detect pregnancies that have an increased risk of a chromosome condition such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), other rare trisomies and partial chromosome deletions and duplications.
These conditions are all related with intellectual disability and congenital malformations. The severity of intellectual disability and the risk of malformations vary with different disorders.
What is NIPT?
NIPT is an sophisticated screening test that includes an exact and accurate measure of the amount of fetal DNA in your blood before proceeding with the chromosome analysis. The NIPT uses cell-free Fetal DNA (cfDNA) located in the maternal blood to detect chromosome conditions found during pregnancy. cfDNA is released from the placenta into the maternal blood stream as part of the growth and development of the baby.
The NIPT screening is safe and poses no threat to the pregnancy as it uses a simple blood sample collected from the mother.
Accuracy
The finding rate; this describes how good the test is at detecting a specific condition such as Down syndrome using the NIPT is >99%. What this means is that if your pregnancy is affected by Down syndrome, it will almost certainly be detected.
What happens if the NIPT is a high risk result?
A high risk result doesn’t necessarily mean that your pregnancy is definitely affected by a specific condition, what it means is that that may be an increased chance. When this happens a genetic counsellor will contact your obstetrician to discuss other testing options, such as diagnostic testing. Diagnostic testing will not give you a definitive yes or no answer, however it is the only way to verify the presence of a condition or assure you you’re your pregnancy will not be affected.
When can I do the test?
Screening can be done any time from 10 weeks of your pregnancy. Once the test has been undertaken it then takes 3-8 business days to receive the results. Your results are investigated by certified medical scientists who are trained specialists in prenatal screening and diagnosis.
For more information please speak to Dr Suzana at your next appointment or visit:
https://www.sonicgenetics.com.au/nipt/patients/what-is-nipt/
https://www.vcgs.org.au/tests/perceptnipt