Non-invasive prenatal testing (NIPT)

What is a Non-invasive Prenatal Testing (NIPT)?

Generation is our non-invasive prenatal test (NIPT) 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 advise of the fetal sex if this is something you wish to know. Your doctor can advise on the best Generation test for your personal circumstances.

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. After your blood test, the Generation NIPT tests this DNA to identify certain chromosome 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.
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 sample arriving at the Genomic Diagnostics laboratory for Generation 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 take the Generation test?

The Generation test 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 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 and 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

Verifi™ and Verifi™ Plus are the manufacturer’s names for Generation and Generation Plus. Verifi™ is validated for aneuploidy of chromosomes 21, 13, and 18 in both singleton and twin pregnancies, with gestational age of at least 10 weeks 0 days. Aneuploidy of sex chromosomes are validated only for singleton pregnancies, while presence/absence of Y chromosome material is validated for twin pregnancies. Verifi™ Plus is validated for trisomies of all chromosomes, including 21, 13, 18, sex chromosome aneuploidies and for specific deletions in chromosomal regions 1p36, 4p16.3, 5p15.2, 15q11.2, 22q11.2, in singleton pregnancies, with gestational age of at least 10 weeks 0 days. Both Verifi™ and Verifi™ Plus are screening tests that look only for specific chromosomal abnormalities. A normal result does not eliminate the possibility that the pregnancy is associated with other full or partial chromosomal or abnormalities, birth defects, genetic conditions, or other conditions, such as open neural tube defects or autism. There is a small possibility that the test results might not reflect the chromosomes of the fetus but may reflect chromosomal changes of the placenta (confined placental mosaicism, CPM) or of the patient (chromosomal abnormalities in the patient). Examples include sex chromosome status (eg. XXX), or benign and malignant neoplasm in the patient. Some cases of CPM may be associated with a higher chance for pregnancy complications or for uniparental disomy (UPD), which may affect the growth and development of the fetus. Some of these rare chromosomal aneuploidies may only occur in mosaic form. Clinical consequences depend on the chromosome involved and cannot be predicted prenatally. This test, like many tests, have limitations, including false negative and false positive results. A negative test result does not eliminate the possibility of chromosomal abnormalities for the tested chromosomes or microdeletions. In the case of vanishing twin, the test result may reflect the DNA of the vanishing twin, leading to a higher probability of false positive, false negative results, or sex discordance. No irreversible clinical decision should be made based on these screening results alone. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis would be necessary. In some cases, other testing may also be necessary.

Please note: As this website contains only general education information, professional advice from your medical practitioner should be sought before applying the information in this website to particular circumstances. You should not rely on any information contained in this website without first obtaining professional advice. Prices are correct at time of publishing and are subject to change without notice.

Resources

NIPT - Patient - Generation NIPT patient brochure

Download

Generation NIPT test request form

Download

Warfarin Care Clinic

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Generation

Screening for the most common chromosomal changes in your unborn child.

Order now

455

Generation 46

Screening all chromosomes for changes in your unborn child.

Order now

525

Generation Plus

Screening for the most common chromosomal changes along with specific microdeletion syndromes.

Order now

799

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Search over 600 collection centres across Queensland.

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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.

Clinicians' process

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.