Non-invasive Prenatal Testing


MEDICAL PRACTITIONER FACT SHEET	NIPT SAMPLE COLLECTION INSTRUCTIONS	GENERATION TEST REQUEST FORM

Introducing the Generation® screen

Simple

A single tube of blood drawn from the patient;

Convenient

Blood can be collected in one of our collection centres from as early as 10 weeks;

Accurate^1,2,5

>99% Accuracy for Trisomy 21, 18 & 13

Australian

Your patient's Generation® test is performed in Australia.
(Generation® Plus test with microdeletions is performed in California.)

Reliable

It has the lowest reported test failure rate of any NIPT (0.1%);1
NATA/RCPA accredited

Fast

Results for Generation® tests are reported 5-7 days from sample collection.
The Generation® Plus test including microdeletions is reported 9-14 days from collection due to sample transport times to California.

Cost Effective

The standard Generation® test is available at $395^*
Generation® Plus including microdeletions, please enquire for pricing.^*

Extended Services

Exclusively able to be bundled with other advanced scientific services such as cord blood stem cell banking for your baby at birth

^*Prices subject to change.

What is Generation®?

The benefits of whole genome sequencing

Generation® has the lowest reported test failure rate

What does the Generation® NIPT test for?

The Generation® NIPT screens for the most commonly seen and tested chromosomal anomalies, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and sex chromosome aneuploidies.

If Generation® Plus^* is requested, the following list of common microdeletions are also tested for:

DiGeorge syndrome (22q11.2 deletion syndrome), which is commonly associated with heart defects, cleft palate, immune system disorders and intellectual disabilities.
Angelman syndrome, which is commonly associated with significant developmental delay and learning disabilities, seizures and hyperactivity.
Prader-Willi syndrome, which is commonly associated with mild to moderate intellectual disabilities, poor muscle tone and feeding difficulties in infancy that progresses to behaviour issues and compulsive over-eating in childhood.
Wolf-Hirschhorn syndrome, which is associated with intellectual disability, characteristic facial features, seizures and delayed growth and development.
Cri-du-chat syndrome, which is associated with intellectual disability, developmental delays, characteristic facial features and a high-pitched, cat-like cry in newborns.

^*Please enquire for the cost of Generation® Plus. This test option should be considered only when there are specific indications of an increased rick 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.

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

Generation® and Generation® Plus NIPT do NOT test for any genetic conditions not listed above, such as rarer chromosome abnormalities, or family specific mutations (such as cystis fibrosis). Testing for these conditions may be available by invasive methods. Please contact us if you require further information about this. Non-genetic conditions (such as neural tube defects) are similarly not tested for by NIPT.

^*Prices subject to change

Prenatal prevalence of reported chromosomal abnormalities

What are the performance characteristics for Generation® NIPT?

Who should be offered the Generation® NIPT test?

Numerous studies have conclusively demonstrated the benefits for NIPT in women with a high risk pregnancy, including:

Women aged over 35
Women with abnormal first trimeseter combined biochemical and ultrasound findings
Women with a family history of chromosomal abnormalities
Women with a high risk for invasive testing (e.g. IVF)

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.

Although serum biochemical screening with ultrasound is not as accurate as NIPT, patients should still be offered these tests as they are complementary tests which detect a larger 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.

Generation® NIPT is a new powerful investigative tool. Pregnancy is an important time for mothers and their fetuses, with tests, results, and recommendations carrying major clinical implications. Before proceeding with testing, it is important that all clinicians understand the purpose and performance of this test, and how to appropriately explain the results to their patients. We require that patients provide written consent ensuring that these issues have been discussed and understood by the patient and clinician.

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.

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

Appropriate follow-up after NIPT

Genetic Counselling Options

How do I organise for my patient to be tested?

More options for more patients

References

1) http://legacy.screening.nhs.uk/fetalanomalies
2) http://www.theguardian.com/society/2016/jan/15/non-invasive-test-for-downs-syndrome-recommended-for-high-risk-women
3) 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
4) ACOG Committee on Practice Bulletins. (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-227.
5) 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.
6) Bhatt S. Parsa S, Synder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal testing Update on Clinically Relevant Metrics. ISPD 2014 poster.
7) Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012; 119:890-901.
8) 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
9) Bianchi DW, Parker RL, Wentworth J et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808
10) Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from material plasma. Clin Chem. 2015; 61(4):608-16
11) Wong FC, Lo YM. Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma. Annu Rev Med. 2016 Jan 14; 67:419-32.
12) 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.
13) 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.
14) Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211:527.
15) Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012; 207(2):137.e1-137.e8.
16) Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012. 14:296-305

Collection Centres

We have many collection centres located across South Australia.
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