In early pregnancy, our Non Invasive Prenatal Test (NIPT) called Nest™ will offer you an early, accurate and personalised option for determining the risk to your baby for chromosome disorders including the more common disorders, Down syndrome (Trisomy 21) and Edward syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13) and the sex chromosomes disorders.
Nest™ can be done as early as 10 weeks with a simple blood sample.
Who should consider having an NIPT test?
- Anyone wanting the most accurate information on the risk for a chromosome disorder early in their pregnancy
- Women over the age of 35 who do not want to have invasive testing
- Those with an increased risk result on nuchal translucency screening
- Previous pregnancy with a chromosome disorder
- History of miscarriage
How does NIPT work?
A sample of your blood is drawn and the genetic material (DNA) from you and your baby is tested. The Nest™ screening is a more precise method, using an advanced technology called ‘massively parallel sequencing’ to analyse millions of DNA fragments per sample and accurately count the number of chromosomes present. It then uses a special calculation method to determine if your baby has too many or too few copies of particular chromosomes.
What does Nest™ screen for?
Chromosomes normally come in pairs. Most individuals have 23 pairs of chromosomes. Nest™ looks for too few or too many copies of chromosomes.
Missing or extra copies of chromosomes can be associated with intellectual or physical disabilities with differing levels of severity. The most commonly seen chromosomal conditions include trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and trisomy 13 (Patau syndrome) all of which can be accurately detected with Nest™.
Nest™ can also be used to screen for sex chromosome conditions such as Turner syndrome (only one X chromosome in a female) or Klinefelter syndrome (an extra X chromosome in a male). Other possible sex chromosome conditions are Triple X syndrome (an extra X chromosome in a female) and Jacob syndrome (an extra Y chromosome in a male). You can also elect to have the gender of the baby reported.
What do my Nest™ results mean?
Your results will tell you and your doctor whether or not trisomy’s 21, 18, 13 or sex chromosome conditions (if ordered) are likely to be present in your pregnancy. In the case of a high probability result, your doctor and genetic counsellor will discuss what the results mean to your pregnancy as well as further testing options to consider.
Your test will include one of two possible results:
- Low probability – means the expected number of chromosomes were found.
- High probability – means too many or too few copies of one of the chromosomes have been identified. This can indicate a chromosome condition. Diagnostic testing is recommended for confirmation.
If the sex chromosome option is ordered, results will be reported as either low or high probability. If gender is requested this will be labelled as male or female.
NIPT Genetic Counselling
Genetic counsellors are available if requested by your doctor to explain this technology and how the results will be reported. They may also deliver your results if requested. Having a deep understanding of this technology gives them the skills to interpret the results and assist in explaining them. If the results do come back showing a high probability, the genetic counsellor can assist in explaining the next steps.
How do I get started?
Your GP or Obstetrician is the best place to start, ask for a referral for an NIPT test and then we can book you an appointment for NIPT consultation and blood collection.
Current turnaround time due to COVID-19 delay is 5 – 7 business days.