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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  info@natera.com.  

 

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  info@natera.com.  

 

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.