Step 1
Discuss NIPT testing with your patient and the various options available, and provide a request form. Ensure the Patient Consent section is signed.
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:
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.
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.
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:
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.
Genomic Diagnostics provides you with three options for your NIPT test. Please discuss with your doctor which one is right for you. All options can tell you the sex of the baby if that is something you want to know.
• Generation
• Generation 46
• Generation Plus
All Generation options look for too few (missing) or too many (extra) copies of chromosomes.
The most commonly seen and accurately chromosomal changes detected with all Generation options include:
The standard Generation test looks at all of these.
The Generation 46 option of the NIPT range of tests screens for gains and losses of all 46 chromosomes (pairs 1 through 22 plus the sex chromosomes X and Y), including trisomy 21, 18 and 13, and the sex chromosome number changes in the standard Generation option.
It not only screens for extra or missing whole chromosomes but also for extra or missing parts of the baby’s chromosomes.
Changes in chromosomes other than 21, 18, 13, X and Y are rare, but can provide your doctor with important information on the health of your pregnancy.
The Generation Plus option screens for all conditions included in the standard Generation option as well as a range of specific small microdeletion syndromes (where small bits of the chromosome are missing):
It does not look at all chromosomes.
The Generation prenatal test does not qualify for a Medicare rebate and is not covered by private health insurance. It requires payment before testing is performed. The total out-of-pocket cost to the patient for Generation is $455, for Generation 46 is $525 and for Generation Plus is $799.
* Prices are valid as of July 2023 and are subject to change.
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. 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 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 specific chromosomes including the sex chromosomes. It doesn’t test for genetic and non-genetic problems that may be present in a baby or report on them.
No. Your doctor needs to specify on the Generation request form if you want to be told about the fetal sex, or for it not to be included in your report.
No. The Generation range of NIPT tests are offered as screening tests for chromosomal changes and fetal sex results are included as a courtesy if requested.
NIPT is a highly accurate screen for chromosomal conditions and is much better than older style screening tests at identifying whether a baby is or isn’t affected by the conditions being tested. However, sometimes a pregnancy can be identified as high risk by NIPT but the baby does not have a chromosomal condition. The chance of this happening often depends on the age of the mother and the specific condition. The fact that this can happen is the reason that all high risk results should be confirmed by a diagnostic test (amniocentesis or chorionic villus sampling) to clarify if the baby does or does not have a chromosomal abnormality. All of this can be explained by the genetic counsellor during genetic counselling that is available for all high risk NIPT results from Genomic Diagnostics.
No. The test has been designed to reliably detect fetal aneuploidies from 10 weeks gestation onwards. Testing before 10 weeks may result in a higher test failure rate.
Testing can be performed any time from 10 weeks onwards up until the date of delivery. However, options available in the case of a high risk results may be limited for later term testing, based on individual state regulations.
The maternal serum screen is an aneuploidy screening test which is only available during the first trimester period whereas NIPT can be offered anytime during a pregnancy. The accuracy of serum screening is not as high as NIPT for the common aneuploidies and it has both a higher false positive and a higher false negative rate than NIPT. This means serum screening incorrectly reports that your baby has a high risk of a genetic change when they do not, or a low risk of a genetic change when the baby may actually have a genetic abnormality, at higher rates than with the NIPT test.
No. There are no Medicare rebates for NIPT testing at this time. We endeavour to keep our prices as low as possible.
No. The collection centre cannot take your payment. However, you can pay online anytime by clicking here. If you’re unable to pay online, you can make payment by phone Monday-Friday between 8am-6pm AEST on 1800 822 999.
Genomic Diagnostics has a partnership with Illumina, Inc to undertake Generation Plus testing. Your samples and request form will be sent to the Illumina laboratory in California, USA for testing.
If you need to cancel your test, please call our Customer Care team on 1800 822 999. Note that administrative and testing fees may apply.
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.
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:
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.
Step 1
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
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
Results are delivered to you by your preferred method. Genetic counselling is offered free of charge for all high-risk aneuploidy results.
NIPT for fetal chromosomal aneuploidies has the highest detection rate and lowest false positive rate of available prenatal screening methods. Combined with the lowest reported failure rate, Generation NIPT ensures that more patients will avoid invasive diagnostic procedures.
NIPT is a highly accurate screening test. This means that if there is a true chromosomal aneuploidy in the fetus, it is highly likely that it will be detected by NIPT. However, a more clinically useful statistic is the positive predictive value (PPV) which is the chance that a high-risk correctly identifies true aneuploidy in the fetus. PPV is different for every woman, and is determined by factors including maternal age, type of aneuploidy, and personal and family medical history. For example, the chance of Down syndrome following a high risk test result is 94% for a 40-year-old woman and 63% for a 30-year-old woman. This variability in PPV, due to biological and technical false positive results, means that diagnostic testing by amniocentesis or chorionic villus sampling is strongly recommended prior to making definitive decisions regarding further pregnancy management.
Genomic Diagnostics provides a free genetic counselling service to explain the individual risks to every woman who has a high-risk result.
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 next generation sequencing-based NIPT 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 institutions.
Those findings have been replicated in other studies which includes 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.
Generation uses the most advanced Whole Genome Sequencing technology and research has shown this is the most sensitive method available for NIPT.
Fetal fraction (FF) represents the percentage of cell free fetal DNA in the mother’s circulation. Measurement ensures the placental DNA can be detected in the maternal plasma in sufficient quantities to generate a meaningful result. A number of factors can influence the level including fetal aneuploidy. Generation testing uses a dynamic threshold, which looks at FF in combination with other sample-specific information, which reduced NIPT failures while ensuring accurate calls. Generation reliably provides accurate results on samples with a fetal fraction of <2%.
NIPT is the most accurate screening test for chromosomal abnormalities such as Down syndrome. Although serum biochemical screening with ultrasound is not as accurate as NIPT, patients can still be offered serum screening prior to NIPT, as it is a complementary test which detects a different range of abnormalities including neural tube defects and non-genetic abnormalities. NIPT, biochemical testing and ultrasound testing measure different things; the genetic code versus biochemical function and fetal anatomy respectively
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.