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.
How does the Generation® test work?
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 and determine if there are too many or too few copies of the tested chromosomes in your baby.
Is the Generation® test right for me?
The Generation® test offers parents-to-be a new choice 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 their pregnancy.
This screening test may be an option for you to consider if:
What kind of conditions can the Generation® test detect?
Chromosomes normally come in pairs. Healthy people have 23 pairs of chromosomes, with one pair which determines sex. Men normally have an XY pair of sex chromosomes, and women normally have an XX pair of sex chromosomes. Any more or less can lead to mental or physical disabilities, with different levels of severity.
The Generation® NIPT looks for two few (missing) or too many (extra) copies of chromosomes, which are often associated with these disabilities. The most commonly seen and tested for include an extra copy of chromosome 21 (Down syndrome), or an extra copy of chromosome 18 (Edwards syndrome), or chromosome 13 (Patau syndrome), or sex chromosome aneuploidies all of which can be accurately detected with the Generation® test.
Why should I choose the Generation® test over others?
Compared to similar options, the Generation® prenatal test offers accurate, near diagnostic information, rather than calculating chances or risk scores. It does not carry the risk of complications that an invasive procedure can.
How will my test be reported?
Your test report will include one of three possible results for chromosomes 21, 18 and 13:
Sex chromosome results will be reported as either No Aneuploidy Detected or Aneuploidy Detected.
Do normal Generation® test results mean that my baby will be perfectly healthy?
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
How do I know I can trust the Generation® test?
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 studies2,3,4, 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.
Your tests are performed in Australia in an accredited Australian laboratory, with this test undergoing full regulatory evaluation in the coming months.
How do I organise to have the Generation® test?
Does Medicare or private health insurance cover the cost of the Generation® prenatal test?
The Generation® prenatal test does not qualify for a Medicare rebate. The total out-of-pocket cost to the patient for the standard test for chromosomes 13, 18, 21 and sex chromosomes is $395 ($450 if Generation® Plus is requested), which is payable prior to sample collection by calling our Customer Care Team on 1800 822 999.
1. Bhatt S, Parsa S, Snyder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal Testing: Update on Clincially Relevant Metrics. ISPD 2014 poster.
2. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890-901.
3. Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in non-invasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013;33:569-574.
4. Bianchi DW, Parker RL, Wentworth J et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808.
5. Verinata Health, Inc. (2012) Analytical Validation of the verifi Prenatal Test: Enhanced Test Performance For Detecting Trisomies 21, 18 and 13 and the Option for Classification of Sex Chromosome Status. Redwood City, CA.