Non-invasive Prenatal Testing (NIPT)

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Introducing Generation

Non-invasive prenatal testing (NIPT) is a revolutionary advance in prenatal screening. A simple and highly accurate blood test, NIPT screens for common chromosomal abnormalities from as early as the 10th week of pregnancy, for both singleton and twin pregnancies.

NIPT can also be exclusively bundled with other advanced scientific services including, cord blood stem cell banking for your baby at birth.

Your guide to Generation

  • A single tube of blood is drawn
  • You can have an NIPT blood test as early as 10 weeks
  • 99% Accuracy for Trisomy 21, 18 & 13 - Down syndrome, Edwards syndrome and Patau syndrome.
  • All screens are analysed in an accredited Australian* laboratory
  • The lowest reported test failure rate of any NIPT
  • Doctors will receive results within 5-7 days

* If a Generation Plus test is requested, your sample will be sent to an accredited laboratory in California. Results will be available in 9-14 days due to shipping times.

Please note…

This website contains only general education information. For professional advice on all prenatal screening matters, please consult your medical practitioner.
NB: Prices are correct at time of publishing and are subject to change without notice.

 

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 suite of non-invasive prenatal tests (NIPT) screens for the most common chromosomal abnormalities that can affect your baby’s future health using a simple blood test.

The Generation NIPT options are 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 Generation tests this DNA to identify certain chromosome conditions in your pregnancy. Generation 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.

Generation can be used to obtain important information about the

health of your 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.

Simply because it can be used to obtain important and accurate information about the health of your developing baby in the first trimester (at 10 weeks), with little or no risk to the pregnancy. This screening test may be an option for you if:

  • You will be 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 has revealed concerns or abnormalities with foetal growth and / or development
  • You have a personal or family history suggestive of a chromosome disorder (e.g. Down syndrome)

What’s more, clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, be given the opportunity to take an NIPT and other available prenatal screening and diagnostic tests.

Chromosomes normally come in pairs. Most 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 range of tests looks for two few (missing) or too many (extra) copies of chromosomes or parts of chromosomes, which are often associated with these disabilities.

Generation accurately screens for the most commonly seen and tested for including:

  • 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 (change in number)

Generation 46 expands on the Generation screen to include screening of all 23 pairs of chromosomes:

  • Screening of chromosomes 1 to 22 (including 21, 18 and 13 tested by Generation), for a change in number and losses or gains of small parts of the chromosomes
  • Specific sex chromosome aneuploidies

If the Generation Plus test is requested by your doctor, more rarely occurring microdeletion genetic syndromes are also tested for. These microdeletion syndromes are caused by the loss of a small piece of a chromosome and testing might be recommended by your doctor for a number of clinical reasons. The Generation Plus test cannot be performed on twins.

Screening for changes in the number of sex chromosomes is only available for singleton (one fetus) pregnancies.

Your test report will include one of two possible results for each of chromosomes 21, 18 and 13 and the sex chromosomes. If you have Generation 46 you will also get a result for all other autosomes:

  1. Low risk result – means the expected number of chromosomes was found
  2. High risk result – 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 range of prenatal tests are highly accurate advanced screening tests that are non-invasive. No test, however, can guarantee a baby will not have any medical issues.

The Generation test only addresses specific chromosomal changes. It does not test for, or report all, genetic and non-genetic problems that may be present in a baby.

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.

  1. Make an appointment to see your medical practitioner and discuss the Generation NIPT.
  2. Complete the request form with your doctor - go to www.generationNIPT.com.au.
  3. Pay and find a convenient collection location for your Generation test online or contact Customer Care on 1800 822 999
  4. Bring the request form to your appointment. Your blood sample will be taken and sent to the lab for testing.
  5. Your Generation NIPT is performed.

Your results are delivered to your medical practitioner.

Generation tests do not qualify for a Medicare rebate.

The total out-of-pocket cost to the patient for Generation is $395, Generation 46 is $395 and generation Plus is $695. This is payable prior to sample collection either through our shopping cart or by calling our Customer Care Team on 1800 822 999.

*Prices are subject to change.