the facts about natera’s non-invasive prenatal test … reporting is an option where allowed by...
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With Panorama’s high sensitivity and low False Positives, >99% of women who screen positive for Down syndrome will be carrying a fetus with Down syndrome.2
WHY NIPT? Helps avoid unnecessary chorionic villus sampling and amniocentesis.
For every 20 women who show High Risk for Down syndrome with biochemical screening, only one (5%) will be carrying a fetus with Down syndrome,1 and many who are not carrying a positive fetus will have invasive procedures.
Panorama is the only NIPT that uses the advanced science afforded by SNPs (single nucleotide polymorphisms) to differentiate the maternal from the fetal cell-free DNA (cfDNA) to determine the genotype of the fetus.2
PANORAMA The next generation in NIPT
TURNAROUND - MOST RESULTS REPORTED IN LESS THAN 10 DAYS
PANORAMATM IS THE MOST ACCURATE, COMPREHENSIVE NON-INVASIVE PRENATAL SCREENING TEST WHICH CAN HELP YOU PROVIDE YOUR PATIENTS WITH THE REASSURANCE THEY NEED DURING THEIR PREGNANCY.
The Facts about Natera’s Non-Invasive Prenatal Test (NIPT) THE ONLY NIPT THAT CAN IDENTIFY TRIPLOIDY
THE VALUE OF PANORAMA OVER OTHER NIPTS
COMPARISON WITH OTHER NIPTS WHICH ARE BASED ON COUNTING TECHNOLOGIES
Panorama Test Other NIPTs
Uses more robust data – the actual DNA from the mother – to “subtract out” the mother’s cfDNA from the fetus and does not require use of a
reference chromosome
Do not separate out the maternal from the fetal cfDNA – they simply count cell-free DNA strands and compare to a reference chromosome
>99% combined accuracy for T21, T18, and T13, male and female, and triploidy at levels as low as 4% fetal fraction in published clinical trials Up to 25% false negatives at fetal fraction of 4-8%
Always reports fetal fraction Most do not report fetal fraction
Always reports risk score for monosomy X - an aneuploidy that is more common at mid trimester than T13, T18 and T21 combined
Some only call monosomy X when found, and do not confirm the absence of monosomy X
Provides every patient with a Personalised Risk Score May include grey areas like “aneuploidy suspected”
Identifies triploidy, a major cause of miscarriage Unable to detect triploidy
22q11.2 deletion syndrome screening which occurs in approximately 2,000 births can be requested Most do not offer 22q11.2 deletion syndrome screening
Panorama uses a proprietary, patented algorithm, called Natera’s NATUS, to take into account the actual DNA of the mother, and uses that to deduce the fetal genotype. The result is a report that provides a personalised risk score. Through the use of this science, Panorama is accurate at fetal fractions as low as 4%3, and can be used earlier in the pregnancy than other NIPTs. The NATUS algorithm incorporates over 3,000 SNPs per chromosome evaluated, allowing Panorama to select SNPs that are not impacted by ethnicity.
Panorama delivers more accuracy than other NIPTs. There are several versions of NIPT available for you to offer your patients. However, Panorama’s accuracy remains excellent even at fetal fraction (ff) as low as 4%. The accuracy of all other NIPTs that use quantitative counting methods, falls markedly when fetal fraction drops below 8%. This is true even for T21, typically the easiest trisomy to identify.3,5
– In the non-Panorama data set (average gestational age 15 weeks), 10-15% of women had fetal fraction between 4-8%. – Panorama research determined that 25% of women at gestational ages between 9-14 weeks had fetal fraction between 4-8%.3
– In addition, Panorama is able to report both high sensitivity and specificity for all chromosomes evaluated, even X and Y.6,7,8
NATERA’S NATUS TECHNOLOGY (NEXT-GENERATION ANEUPLOIDY TEST USING SNPS).
LOW FETAL FRACTION DECREASE SENSITIVITY RATES FOR COUNTING NIPT TECHNOLOGIES
%Fetal Fraction
of cell-free
DNA
Counting Down
syndrome Sensitivity
Rate5
Panorama Down
syndrome Sensitivity
Rate2
≥8% >99% >99%
4-8% 75% >99%
PersonalisedResult
MICRODELETION SYNDROMESPanorama now offers a screen for the most common and severe microdeletion syndromes, in addition to its basic screen for T21, T18, T13, tripoidy and sex chromosome abnormalities.
Why Screen for Microdeletion Syndromes?
• Are common and can be severe• Carry equal risk across all maternal ages• Often undiagnosed• Respond to early childhood intervention
Scientifically Validated
Microdeletion validation has been completed by Natera™ with 469 samples, including 110 confirmed positives. Accuracy of performance has been validated at fetal fractions as low as 3.8%.
Limitations of the Test
Panorama does not screen for all microdeletion syndromes. Performance specifications reflect presence or absence of the entire targeted region. Patients who screen positive should be offered a follow-up invasive procedure to confirm diagnosis.
How to order Panorama’s Microdeletion Screening
You may order the Panorama pre-natal screen alone or the extended panel with one of these two options:
• 22q11.2 Deletion syndrome (also known as DiGeorge syndrome) alone
• 22q11.2 deletion, Prader-Willi, Angelman, Cri-du-chat and 1p36 deletion syndromes
Please Note: Microdeletion screening cannot be ordered separately from the Panorama prenatal screen.
February 2014 PANO-‐MD-‐INSRT-‐REV1(2/14)INTL
Incidence in 100,000 Live Births
How to Order Panorama’s Microdeletion Screening Outside the USA
You may order the “Panorama Test” alone or with one of these two options:
• 22q11.2 Deletion syndrome (also known as DiGeorge syndrome)
• “Panorama Extended Panel” which includes: 22q11.2 deletion, Prader-‐Willi, Angelman, Cri-‐du-‐chat,
1p36 deletion syndromes
• Fetal sex reporting is an option where allowed by local laws
Please Note: Microdeletion screening cannot be ordered separately from Panorama.
For more information or to order Panorama kits, call 855-‐866-‐6478, or send an email to [email protected].
Why Screen for Microdeletion Syndromes?
• COMMON AND SEVERE
• OFTEN UNDIAGNOSED
• HAVE EQUAL MATERNAL RISK ACROSS ALL
MATERNAL AGES
• EARLY CHILDHOOD INTERVENTION MATTERS
Scientifically Validated
Microdeletion validation has been completed by
Natera™ with 469 samples, including 110 confirmed
positives. Accuracy of performance has been validated
at fetal fractions as low as 3.8%.
Limitations of the Test
Panorama does not screen for all microdeletion
syndromes. Performance specifications reflect presence
or absence of the entire targeted region. Patients who
screen positive should be offered a follow-‐up invasive
procedure to confirm diagnosis.
MICRODELETION SYNDROMES
Panorama™ now screens for the most common and severe microdeletion syndromes, in addition to its basic screen for T21,
T18, T13, triploidy, and sex chromosome abnormalities.
0
20
40
60
80
100
120
140
Incidence out o
f 100,000 Births
22q11.2 Is Common
1/2000
1/1000
1/500
1/250
20 22 24 26 28 30 32 34 Maternal Age
MicrodelePons are More Common than Down Syndrome in Younger Women
Down Syndrome (T21)
Panorama™ Microdeletions
February 2014 PANO-‐MD-‐INSRT-‐REV1(2/14)INTL
Incidence in 100,000 Live Births
How to Order Panorama’s Microdeletion Screening Outside the USA
You may order the “Panorama Test” alone or with one of these two options:
• 22q11.2 Deletion syndrome (also known as DiGeorge syndrome)
• “Panorama Extended Panel” which includes: 22q11.2 deletion, Prader-‐Willi, Angelman, Cri-‐du-‐chat,
1p36 deletion syndromes
• Fetal sex reporting is an option where allowed by local laws
Please Note: Microdeletion screening cannot be ordered separately from Panorama.
For more information or to order Panorama kits, call 855-‐866-‐6478, or send an email to [email protected].
Why Screen for Microdeletion Syndromes?
• COMMON AND SEVERE
• OFTEN UNDIAGNOSED
• HAVE EQUAL MATERNAL RISK ACROSS ALL
MATERNAL AGES
• EARLY CHILDHOOD INTERVENTION MATTERS
Scientifically Validated
Microdeletion validation has been completed by
Natera™ with 469 samples, including 110 confirmed
positives. Accuracy of performance has been validated
at fetal fractions as low as 3.8%.
Limitations of the Test
Panorama does not screen for all microdeletion
syndromes. Performance specifications reflect presence
or absence of the entire targeted region. Patients who
screen positive should be offered a follow-‐up invasive
procedure to confirm diagnosis.
MICRODELETION SYNDROMES
Panorama™ now screens for the most common and severe microdeletion syndromes, in addition to its basic screen for T21,
T18, T13, triploidy, and sex chromosome abnormalities.
0
20
40
60
80
100
120
140
Incidence out o
f 100,000 Births
22q11.2 Is Common
1/2000
1/1000
1/500
1/250
20 22 24 26 28 30 32 34 Maternal Age
MicrodelePons are More Common than Down Syndrome in Younger Women
Down Syndrome (T21)
Panorama™ Microdeletions
February 2014 PANO-‐MD-‐INSRT-‐REV1(2/14)INTL
Syndrome Incidence Sensitivity 1 Specificity 1 Location
Size of Region # of SNPs
Lifespan Mental Effects Heart Defects Other features
22q11.2 Deletion/ DiGeorge
1 in 2,000 2 95.7% (45/47) 5, 6 (85.5-‐99.5%) 7
>99% (419/422) (97.9-‐99.9%) 7
22q11.2 (2.9 MB) 672 SNPs
Reduced Mild to moderate intellectual disorder &
schizophrenia
Yes Palate and feeding issues, immune problems, low
calcium, seizures
Prader-‐Willi
1 in 10,000 3 93.8% (15/16) (69.8-‐99.8) 6
>99% (453/453) (99.2-‐100%) 7
15q11-‐q13 Paternal (5.9 MB)
1,152 SNPs
Reduced Mild to severe intellectual disorder & behavioral problems
No Hypotonia in babies, insatiable appetite
Angelman 1 in 12,000 3 95.5% (21/22) (77.2-‐99.9%) 6
>99% (447/447) (99.2-‐100%) 7
15q11-‐q13 Maternal (5.9 MB)
1,152 SNPs
Normal Severe intellectual disorder
No “Happy” affect, ataxia, microcephaly, no speech,
seizures
Cri-‐du-‐chat
1 in 20,000 4 >99% (24/24) (85.8-‐100%) 7
>99% (444/445) (98.8-‐99.9%) 7
5p15.2 (20 MB)
1,152 SNPs
Infancy to adult
Moderate to severe intellectual disorder & behavioral problems
No Cat-‐like cry, growth problems, wide set eyes
1p36 Deletion
1 in 5,000 3 >99% (1/1) (2.5-‐100%) 7
>99% (468/468) (99.2-‐100%) 7
1p36 (10 MB)
1,152 SNPs
Normal in most
Severe intellectual disorder & behavioral
problems
Yes Limited/no language, hearing loss, abnormal ears, seizures, 2:1 M:F
These tests were developed by Natera, Inc., a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA). These tests have not been cleared by the Food and Drug Administration (FDA).
1 Performance specifications reflect presence or absence of the complete targeted region 2 Nussbaum et al 2007. Thompson and Thompson Genetics in Medicine (7th edn). Oxford Saunders: Philadelphia 3 http://www.genetests.org. 4 http://ncbi.nlm.nih.gov/entrez/disponim.cgi?id=123450 5 Calculated based on the test performance including pregnancy samples 6 Calculated based on the test performance including artificial plasma samples 7 95% confidence interval
Total incidence: approximately 1 in 1,000
Microdeletions are More Common than Down syndrome in Younger Women
Severe intellectual disorder & behavioural
problems
Moderate to severe intellectual disorder & behavioural problems
Mild to severe intellectual disorder & behavioural problems
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© 2013 Natera. All rights reserved.
mivf.com.au1800 111 483 for more information
References1. Average for Down syndrome detection rates for multiple laboratories.
2. Zimmermann, B et al. Noninvasive prenatal aneuploidy testing of chromosome 13,18,21, X and Y, using targeted sequencing of polymorphic loci. Prenat. Diagn, 2012;doi: 10.1002/pd.3993.
3. Natera internal data.
4. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. American College of Obstetricians and Gynecologist. Obstet Gynecol 2012;120:P1532-4.
5. Palomaki GE et al.DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov; 13(11):913-20.
6. Levy, B et al. Massively multiplexed targeted amplification and sequencing of SNPs as a method for identifying fetal chromosome disorders from cell-free DNA in maternal plasma .Poster at ACMG 2013.
7. Nicolaides, KH, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y. Prenat Diagn, 2013; June 33(6):575-9.
8. Samango-Sprouse, C et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn, 2013: July 33(7):643-9.
“*” In countries where gender reporting is not allowed or must not be offered before a certain gestational age, Panorama follows the laws of that country.
REASSURANCE The Panorama test provides:
Comprehensive clinical coverage.• Identifying chromosomal abnormalities T21, T18, T13, Monosomy X and Triploidy• Comprehensive microdeletion screening including 22q11.2 deletion syndrome
(also known as DiGeorge syndrome)
Superior accuracy over other NIPTs available and serum screening.• Consistently high accuracy across all chromosomes evaluated• Highest levels of sensitivity and lowest levels of false positives of all NIPTs, even
at low fetal fractions• Accurate results as early as 9 weeks gestation
Excellent customer support.
• Supplemental information sheets can be provided with positive reports that the provider can refer to when discussing the findings with the patient
• Turnaround - most results reported in less than 10 days
A safe, convenient method that can help you avoid invasive fetal testing.• Uses a simple blood sample from the mother
For more information about the Panorama™ screen visit panorama.com
Natera, a company you can trust, has a history of being first.
– The first to offer you 24-chromsome evaluation on a single cell during preimplantation genetic diagnosis.
– The first to offer SNP-array technology on products of conception.
– The first, and still the only, to offer accurate SNP based non-invasive paternity testing during pregnancy.
– h
To request the Panorama screen for your patients:• Explain the test to your patient and complete/sign the
request /consent form give to the patient to bring to a Melbourne IVF Clinic
• Patient to telephone a Melbourne IVF Clinic to book a blood collection
• Results will be sent directly to you the requesting doctor
• If there is a positive result Melbourne IVF will telephone you to ensure you have seen the result and explained the requirement and further testing for the patient.
Melbourne IVF Collection CentresEast Melbourne (03) 9473 4444Mon-Thu 8am - 4pmNo appointment required
Box Hill (03) 9006 5500By Appointment only
Mt Waverley (03) 8805 7888By Appointment only
Werribee (03) 8742 9300By Appointment only
These tests were developed by Natera Inc., a laboratory certified under the Clinical Laboratory Improvements Amendments (CLIA). These tests have not been cleared or approved by the U.S. Food and Drug Administration (FDA).
Melbourne IVFMelbourne IVF is part of Australia’s leading group of fertility specialists, Virtus Health. We offer a wide range of in-house diagnostic laboratory services, including cytogenetics and DNA testing. We also work with patients at risk from a variety of inherited conditions, such as birth defects and genetic disorders e.g. cystic fibrosis. Our doctors and counsellors can help you with advice and information about these risks, and support any decisions you make.