What does the Generation® NIPT test for?
The Generation® NIPT screens for the most commonly seen and tested chromosomal anomalies, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and sex chromosome aneuploidies.
If Generation® Plus* is requested, the following more rarely occurring genetic abnormalities are also tested for:
- Trisomy 9, which is caused by an extra copy of chromosome 9. Almost all pregnancies with trisomy 9 end in first trimester miscarriage. Pregnancies with partial trisomy 9 may survive until term, but typically have significant birth defects and intellectual disabilities.
- Trisomy 16, which is caused by an extra copy of chromosome 16. Trisomy 16 is one of the most common causes of miscarriage. Pregnancies with partial trisomy 16 may survive until term, but are at increased risk for pregnancy complications and often have significant birth defects and intellectual disabilities.
* The cost of Generation® Plus is $450. It is highly recommended that testing for microdeletion syndromes be accompanied by specialised genetic counselling.
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- Common microdeletions, which are caused by the loss of a small piece of a chromosome. Some of the common microdeletions which can be detected by the Generation® test include:
- DiGeorge syndrome (22q11.2 deletion syndrome), which is commonly associated with heart defects, cleft palate, immune system disorders and intellectual disabilities.
- Angelman syndrome, which is commonly associated with significant developmental delay and learning disabilities, seizures and hyperactivity.
- Prader-Willi syndrome, which is commonly associated with mild to moderate intellectual disabilities, poor muscle tone and feeding difficulties in infancy that progresses to behaviour issues and compulsive over-eating in childhood.
- Wolf-Hirschhorn syndrome, which is associated with intellectual disability, characteristic facial features, seizures and delayed growth and development.
- Cri-du-chat syndrome, which is associated with intellectual disability, developmental delays, characteristic facial features and a high-pitched, cat-like cry in newborns.
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Generation® and Generation® Plus NIPT do NOT test for any genetic conditions not listed above, such as rarer chromosome abnormalities, or family specific mutations (such as cystis fibrosis). Testing for these conditions may be available by invasive methods. Please contact us if you require further information about this. Non-genetic conditions (such as neural tube defects) are similarly not tested for by NIPT.
Prenatal prevalence of reported chromosomal abnormalities