What is the Generation® non-invasive prenatal test?

Non-invasive prenatal testing (NIPT) is a revolutionary advance in prenatal screening which can detect genetic material (DNA) from the placenta in a blood test from the mother. In the past, the ability to test DNA from the fetus required much more invasive methods such as amniocentesis or placental biopsies, which are not without risks to mothers and their babies. NIPT is a simple and highly accurate test which may help avoid more invasive techniques of prenatal testing.

The Generation® non-invasive prenatal test (NIPT) screens for the most common chromosomal abnormalities that can affect your baby’s future health using a simple blood test. The Generation® NIPT is available from as early as the 10th week of pregnancy, for both singleton and twin pregnancies.

During pregnancy, some of the baby’s DNA from the placenta crosses into your bloodstream. A sample of your blood is drawn from you, and the Generation® NIPT tests this DNA to identify certain chromosome conditions in your pregnancy. The Generation® test takes a deeper approach to the science, using an advanced technology called “Massively Parallel Sequencing” to analyse millions of DNA fragments per sample and accurately count the number of chromosomes present to determine if there are too many or too few copies of the tested chromosomes in your baby.

The Generation® test can be used to obtain important information about the health of their developing baby, simply, accurately and in the first trimester (at 10 weeks), with little or no risk to the pregnancy.

This screening test may be an option for you to consider if:

• You are 35 years or older at the time of delivery (32 years or older for a twin pregnancy)
• You have an abnormal or “positive” serum screen
• Your ultrasound shows concerns or abnormalities with fetal growth and/or development
• You have a personal or family history suggestive of a chromosome disorder (eg. Down syndrome)

In addition, clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, be offered the opportunity for discussion and choice regarding NIPT and other available prenatal screening and diagnostic tests.

Your test report will include one of two possible results for chromosomes 21, 18, and 13:

	No Aneuploidy Detected – means the expected number of chromosomes was found
	Aneuploidy Detected – means too many or too few copies of one of the chromosomes have been identified. A diagnostic test for confirmation of the result is recommended and should be discussed by your doctor.

The Generation® prenatal test is a highly accurate advanced screening test that is non-invasive. No test, however, can guarantee a baby will not have any medical issues.

The Generation® test only addresses aneuploidies of chromosomes 21, 18, 13, and sex chromosomes^†. It does not test for, or report all, genetic and non-genetic problems that may be present in a baby.

^†Sex chromosome aneuploidy testing is available for singleton pregnancies only.

The Generation® test was chosen for development by Genomic Diagnostics based on a careful evaluation of its quality and proven scientific performance.

The performance of the Generation® prenatal test has been evaluated and published in numerous major studies, including clinical experience in over 34,000 patients from over 60 leading US medical research and teaching institutions¹. Those findings have subsequently been replicated in other studies^2,3,4, including the New England Journal of Medicine, one of the most prestigious international medical journals. These studies have found that the test performed substantially better than conventional tests under regular clinical conditions, with 1 in 4,000 false negative results, 1 in 500 false positive results, and the lowest test failure rate of any non-invasive prenatal test.