nest™ Non-Invasive Prenatal Screening Test (NIPT)

Trisomy 21 or Down syndrome occurs when all or the majority of cells have an extra copy of chromosome 21. Down syndrome is the most common chromosome condition.

Pregnancies affected with Down syndrome have a higher chance of miscarriage. Individuals who have Down syndrome have some level of intellectual disability, characteristic physical features and may have delays in their development.

While some aspects of life may be more challenging than for a typical person, such as healthcare and education, people with Down syndrome now take part in school education, with increasing numbers in mainstream schools. A growing number of people with Down syndrome live more independently and are becoming involved in the workplace when compared with the past.

Trisomy 18 or Edwards syndrome occurs when all, or the majority of cells have an extra copy of chromosome 18.

Edwards syndrome is associated with a high rate of miscarriage. Sadly, babies born with the condition have a significantly shortened life expectancy. They may suffer structural heart and kidney problems, intellectual disability and developmental delay.

Edwards syndrome is the second most common chromosome condition in Australia.

Trisomy 13 or Patau syndrome occurs when all, or the majority of cells have an extra copy of chromosome 13.

Like Edwards syndrome, Trisomy 13 causes a high rate of miscarriage. Tragically, babies born with Patau syndrome rarely survive beyond the first few weeks of life. They often suffer difficulties with feeding and breathing, as well as heart and brain problems.

Approximately one in 3,000 pregnancies in Australia are affected by Patau syndrome. (1)