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 list of common microdeletions are also tested for:
- 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.
*Please enquire for the cost of Generation® Plus. This test option should be considered only when there are specific indications of an increased rick of one of these microdeletion syndromes. Typical clinical indications include, but are not limited to:
- Ultrasound imaging suggestive of a specific microdeletion syndrome.
- Previous history of a pregnancy diagnosed with, or a child affected with, one of these conditions.
This test is not recommended in an unselected/low risk cohort, where the Generation® test should be considered instead. It is recommended that testing for microdeletion syndromes is accompanied by specialised genetic counselling.
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.
*Prices subject to change
Prenatal prevalence of reported chromosomal abnormalities
Generation® NIPT detects 84% of Reported Chromosomal Abnormalities