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 your arm;

Convenient

You can have blood 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 test is performed in Australia

Reliable

It has the lowest test failure rate of any NIPT (0.1%);1

Fast

Your healthcare provider will receive results within 3-7 business days from receipt in our laboratory.

Extended Services

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

What is Generation®?

The benefits of whole genome sequencing

Generation® has the lowest reported test failure rate

The science of deeper sequencing

Generation® minimises test failures

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 more rarely occurring genetic abnormalities are also tested for:

Trisomy 9, which is caused by an extra copy of chromosome 9. Almost all pregnancies with trisomy 9 end in first trimester miscarriage. Pregnancies with partial trisomy 9 may survive until term, but typically have significant birth defects and intellectual disabilities.
Trisomy 16, which is caused by an extra copy of chromosome 16. Trisomy 16 is one of the most common causes of miscarriage. Pregnancies with partial trisomy 16 may survive until term, but are at increased risk for pregnancy complications and often have significant birth defects and intellectual disabilities.

^* The cost of Generation® Plus is $450. It is highly recommended that testing for microdeletion syndromes be accompanied by specialised genetic counselling.

Common microdeletions, which are caused by the loss of a small piece of a chromosome. Some of the common microdeletions which can be detected by the Generation® test include:

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.

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.

Prenatal prevalence of reported chromosomal abnormalities

What are the performance characteristics for Generation® NIPT?

Who should be offered the Generation® NIPT test?

Appropriate follow-up after NIPT

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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StandardOpenID

WGS provides precise counts across the genome	Targeted sequencing is limited to few chromosomes and loci
BENEFITS of Generation® Low assay failure rates (<1%) Ability to add new content to test menu	DRAWBACKS of this method: High assay failure rates (up to 12%) Limited ability to add new content without changing assay

Microarray has a lower resolution DRAWBACKS of this method: Array NIPT unproven with few publications and no independent replication High sample failure – likely requires high fetal fraction (FF) to accurately call Late term – High FF means late term testing

Introducing the Generation® screen

The science of deeper sequencing

Collection Centres

Pay Your Account

Abbott's Gastrolab

Vaccine Supplies

Online Results

Abbott's Genomics

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