Non-Invasive Prenatal Testing (NIPT)

Non-invasive prenatal testing (NIPT) is a safe blood test that screens for genetic conditions in a fetus, providing early, accurate information without risk to the pregnancy.

What is a Non-Invasive Prenatal Test (NIPT)?

Generation is our non-invasive prenatal test (NIPT or NIPS) that screens for chromosomal changes that can affect your baby's future health.

NIPT uses a blood sample from the mother to determine the chance of a chromosomal condition in the developing baby from as early as the 10th week of pregnancy. Generation is highly accurate and safe, and may help avoid more invasive prenatal testing by amniocentesis and chorionic villus sampling.

Three NIPT options are available:

  • Generation
  • Generation 46
  • Generation Plus

All options provide information on the chance that your baby is affected by common chromosomal conditions including Down syndrome, and reveal the baby's sex if this is something you wish to know. Your doctor can help advise on the best Generation NIPT test for you.

How does the Generation test work?

Our genetic information is found in our DNA, on structures called chromosomes. Extra or missing chromosomes can lead to chromosomal conditions that cause miscarriage or results in the birth of a child with mental or physical disabilities.

During pregnancy, some of the baby’s DNA from the placenta crosses into your bloodstream. This DNA is known as cell free DNA. After your blood test, the Generation NIPT tests this DNA to identify certain chromosomal conditions in your pregnancy.

Generation NIPT benefits

  • Convenient - available at a collection centre near you from as early as 10 weeks.
  • Highly accurate - NIPT has a 99% accuracy rate for Trisomy 21 (Down syndrome),18 (Edwards syndrome) & 13 (Patau syndrome) and is more accurate than a first trimester screen (maternal serum screen).
  • Reliable - Generation has the lowest reported test failure rate of any NIPT so expect a result the first time, eliminating stress and time wasted in recollection.
  • Fast results - 3-7 business days of your sample arriving at the Genomic Diagnostics laboratory for Generation NIPT and Generation 46, and 11-15 business days of sample arriving at the overseas laboratory for Generation Plus.
  • Simple and safe - only a single tube blood test that poses no risk to your baby.
  • Quality results - All screens are analysed in an accredited laboratory.

Why should I have the Generation test?

The Generation NIPT test can be used to obtain important and accurate information about the health of your developing baby from 10 weeks gestation, with little or no risk to the pregnancy. You can, however, have it at any time during your pregnancy. There is no time cut off as to when it can be done.

This screening test may be an option for you if:

  • You would like information on possible health issues with your baby
  • 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 fetal growth and / or development
  • You have a personal or family history suggestive of a chromosome disorder (eg. 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 or other available prenatal screening and diagnostic tests.

Patients' process

Step 1

See your doctor to get a referral

NIPT testing can provide important health information on your baby. See your doctor, who can discuss the appropriate Generation option with you, and request the test.

Step 2

Prepare for your collection

Prepayment is required for Generation. Please pay online here. Record your receipt number on the request form. You will also need to sign the Patient Consent section on the request form before blood collection.

Step 3

Get your sample collected

You can have your sample collected at one of our collection centres, which can be selected at the time of online payment. Bring your Generation request form with you when having your blood collected. Generation Plus is not collected each day. Please check on your request form for exact collection days.

Step 4

See your doctor to get your results

Your result is provided to your doctor, who will discuss this with you and action any relevant findings. Genetic counselling is offered free of charge for all high risk results.

FAQ

What conditions are covered by Generation?
What conditions are covered by Generation 46?
What conditions are covered by Generation Plus?
How much is the Generation NIPT and does Medicare or Private Health Insurance cover it?
How does the Generation test work?
Why should you have the Generation test?
Do normal Generation test results mean that my baby will be perfectly healthy?
Does it cost more to find out the fetal sex ?
Can I order/pay for the fetal sex identification only?
How accurate is the Generation test?
Can I be tested before 10 weeks gestation?
How late in my pregnancy can I be tested?
What is the difference between this test and a Maternal Serum Screen?
Is there a discount for healthcare card holders?
Can I pay at the collection centre?
Generation Plus Partnership
NIPT Cancellations
Test Limitations
How quickly can I get my Generation NIPT results?
When can I do an NIPT test?

The Generation suite of NIPT options incorporates Generation, Generation 46 and Generation Plus.

Generation NIPT is a highly accurate, non-invasive prenatal screening test, based on whole genome sequencing (WGS) with proprietary algorithms. The test analyses circulating cell-free fetal DNA, detected from a maternal blood sample, with testing from as early as 10 weeks gestation.

The clinical utility and benefit of the Generation test has been demonstrated in all pregnant women – regardless of age or risk category – in multiple published studies of thousands of pregnant women, for both singleton and twin pregnancies. Clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, should be offered the opportunity for discussion and choice regarding NIPT.

The Generation Plus test option should be considered only when there are specific indications of an increased risk 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.

Test details

SYNDROME GENERATION
$455
GENERATION 46
$525
GENERATION PLUS
$799
Trisomy 21 Down
Trisomy 18 Edwards
Trisomy 13 Patau
Chromosomes 1 - 22 Aneuploidies - -
Specific Sex Chromosome Aneuploidies
Rare Autosomal Aneuploidies (RAA) - -
Subchromosomal Aneuploidies > 7Mb - -
Microdeletions of 22q11, 15q11, 1p36, 4p, and 5p DiGeorge, Angelman/Prader-Willi, 1p36, Wolf-Hirschhorn, Cri-du-chat syndromes - -
Fetal Sex

The Generation Plus test is performed in an accredited laboratory in California and has a longer turnaround time (11 – 15 business days) than other Generation options.

This test is not recommended in an unselected/low risk cohort, where the Generation or Generation 46 screen should be considered instead. It is recommended that testing for microdeletion syndromes is accompanied by specialised genetic counselling.

Features of Generation

  • Simple and safe - A single tube of blood drawn from the patient from 10 weeks gestation.
  • Reliable – Whole genome sequencing has been demonstrated to have the lowest test failure rate.
  • Supportive - Genetic Counselling is available free of charge for those patients where high risk results due to specific aneuploidies are detected (upon request by the healthcare practitioner), so they can better understand their results, the options, and the implications.
  • Highly accurate - > 99% Accuracy for Trisomy 21, 18 & 13.
  • Convenient - Blood can be collected from over 2000 collection centres around Australia.
  • Quality assured - performed in a NATA/RCPA accredited laboratory.
  • Fast results - Generation and Generation 46 are reported in 3 – 7 business days, and for Generation Plus are reported in 11 – 15 business days, from sample arriving at the testing laboratory.

Steps

Step 1

Patient Consultation

Discuss NIPT testing with your patient and the various options available, and provide a request form. Ensure the Patient Consent section is signed.

Step 2

Sample collection

Patients are required to prepay for their Generation NIPT here and note their receipt number of the request form. They then attend their most convenient collection centre with their signed request form. Please note that Generation Plus is not collected each day.

Step 3

Result discussion

Results are delivered to you by your preferred method. Genetic counselling is offered free of charge for all high-risk aneuploidy results.

FAQ

Generation NIPT Accuracy
Why did we choose the Generation test?
How does the Generation test compare to the other NIPT tests available?
What is fetal fraction?
Do I still need to order maternal serum screening?
Test Limitations

References

  1. RANZCOG Statement on Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy C-Obs 59. Endorsed by RANZCOG: March 2015
  2. COG Committee on Practice Bulletins. (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-227.
  3. Society for Maternal-Fetal Medicine (SMFM) Publications Committee. #36: Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol. 2015; S0002-9378(15)00324-5.
  4. Bhatt S, Parsa S, Snyder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal Testing: Update on Clinically Relevant Metrics. ISPD 2014 poster.
  5. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012; 119:890–901.
  6. Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in non-invasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013; 33:569-574.
  7. Bianchi DW, Parker RL, Wentworth J et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808
  8. Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014; 124:210-8.
  9. Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides K.H. Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening. Ultrasound Obstet Gynecol. 2017; 49:460-464.
  10. 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.