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 conditions, which are genetic disorders that can affect physical and mental development.
There is a range of tests available to test for chromosome conditions during pregnancy. For many years, screening for chromosome conditions was done as a test of the mother’s blood (“maternal serum screening”) and an ultrasound at approximately 12 weeks gestation. If there was an increased probability of a chromosome condition, a definitive diagnosis could be achieved by examining cells from the baby collected by an invasive technique such as chorionic villus sampling (CVS) or amniocentesis.
Within the last few years, NIPT has become available as a much more accurate screening test for these common chromosome conditions. This has dramatically reduced the need for invasive tests, although these may still be required to confirm an NIPT result. It is also referred to by some as a NIPS Test or Non-invasive Prenatal Screening.
Sonic pathology practices have provided, and continue to provide, maternal serum screening and analysis of CVS and amniocentesis samples. We are also one of the most experienced providers of NIPT in Australia.
What test options are available?
The primary purpose of NIPT is to identify pregnancies in which there is an increased chance of a common trisomy i.e.
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
The standard NIPT screens for just these disorders.
There is also the option to test for fetal sex and for abnormal numbers of X or Y chromosomes (sex chromosome aneuploidy). The conditions tested can include Turner syndrome (X0) and Klinefelter syndrome (XXY). These conditions are typically less severe than the three trisomies mentioned above. These options are available at no additional charge.
Finally, there is an option to screen for DiGeorge syndrome (22q11.2 deletion), a common microdeletion syndrome. This option is available for an additional charge.
Further details of these disorders can be found here.
Why use Sonic Genetics for NIPT?
We have been providing NIPT since 2013, and brought the test into our Australian laboratories in 2015. Since then, we have tested more than 100,000 women. We constantly review the medical literature on NIPT and the performance of different methods of NIPT to ensure that we are providing you with a test that meets the highest standards. Our testing is now provided in two of our Australian laboratories, both of which are accredited by the Australian regulatory authorities for this class of testing. We have numerous genetic pathologists and experienced medical scientists who supervise the delivery of this test.
The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor.