Panorama NIPT

1. in partnership with
Brought to you by
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

2. 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%
Personalised
Result

3. MICRODELETION SYNDROMES
Panorama 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
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
of
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
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
of
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
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
(7
th
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

4. HP-COM-0065.3|21MAY2014
© 2013 Natera. All rights reserved.
mivf.com.au
1800 111 483 for more information
References
1. 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 Centres
East Melbourne (03) 9473 4444
Mon-Thu 8am - 4pm
No appointment required
Box Hill (03) 9006 5500
By Appointment only
Mt Waverley (03) 8805 7888
By Appointment only
Werribee (03) 8742 9300
By 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 IVF
Melbourne 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.