Non-invasive prenatal testing
Sonic Genetics provides a non-invasive prenatal test (or NIPT) called ‘Harmony’. This is a DNA-based blood test that screens for common genetic conditions, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13), with DiGeorge syndrome (22q11.2 deletion) also available as an option. The test requires a single blood draw, and can be done once you have completed 10 weeks’ gestation. Collecting your blood sample for NIPT poses no threat to your baby.
During your pregnancy, your healthcare providers will offer various tests to help you assess your baby’s health. Some genetic conditions run in families. Others, such as Down syndrome, typically do not. They can happen in any pregnancy. Although the likelihood of a baby having Down syndrome increases with the mother’s age, most babies with Down syndrome are born to women under 35 years of age. As part of your care, you will be given the option to test for chromosome disorders, which are genetic conditions that can affect physical and mental development.
What test options are available?
There is a range of tests available to screen for and diagnose chromosomal abnormalities. Definitive diagnosis can only be achieved by examining cells from your baby collected by invasive techniques, such as chorionic villus sampling (CVS) or amniocentesis. However, these procedures are now more commonly used for confirmatory testing following a result from a screening test, such as the first trimester screen (FTS) or non-invasive prenatal test (NIPT), indicating that a diagnostic test should be carried out to confirm that result. Sonic Genetics offers these tests for Medicare-eligible patients for rebate value only.
Since NIPT first became available in early 2013, there have been changes to test methodologies and new evidence has emerged about test performance. We carefully reviewed the evidence regarding the accuracy and reliability of different forms of NIPT, and chose the Harmony Prenatal Test. We constantly review the medical literature on NIPT to ensure that we are providing you with a test that meets these high standards.
Performed in Australia
Sonic Genetics has performed the Harmony Non-Invasive Prenatal Test in our Australian laboratory since 2015. We have tested many thousands of women in that time.
The Harmony Prenatal Test is also provided by other laboratories in other countries. To date, Harmony has been performed on more than 1,000,000 patient samples around the world.