Non-invasive prenatal testing (NIPT) analyses cell-free DNA in a pregnant woman�s blood to estimate the risk of foetal chromosomal abnormalities.
Panorama�s unique Single Nucleotide Polymorphism (SNP)-based technology enables more comprehensive screening with greater accuracy in validation.
Only Panorama distinguishes between maternal and foetal (placental) DNA
Panorama has validated performance in both high and average risk pregnancies
* PPV = positive predictive value.** For the purposes of calculating PPV, high risk was defined as women 35 years old at delivery, and average risk was defined as women < 35 years old at delivery.
Screens for:
Singleton pregnancies Trisomies 21, 18, 13 Monosomy X Triploidy Sex chromosome trisomies* 22q11.2 deletion syndrome (optional) Additional microdeletion syndromes
(optional) Foetal sex (optional)
Twin pregnancies Zygosity Trisomies 21, 18, 13 Foetal sex for each twin (optional)
If screening reveals monozygotic twins, Panorama can additionally screen for: Monosomy X Sex chromosome trisomies* 22q11.2 deletion syndrome (optional)
Egg donor or surrogate pregnancies (Singleton pregnancies only) Trisomies 21, 18, 13 Foetal sex (optional)
*Reported when suspected
Panorama: the next generation of NIPT
Support every step of the way
� You can offer Panorama as early as 9 weeks gestation.
� Appropriate for singleton, twin, egg donor and surrogate pregnancies.
� Patient can visit any Lancet Laboratories depot in South Africa.
� Booking may be required.
� For a comprehensive location listing please visit www.lancet.co.za/ locate-a-lab/
� Panorama utilises SNP-based sequencing and Natera�s proprietary algorithms to deliver highly accurate and comprehensive results.
� Results will be available within 7 � 10 working days.
� Reports include risk score, PPV (if high risk) and foetal fraction to give you confidence in the results and the care plan for your patient.
SEAMLESS INTEGRATIONInto your workflow
SAFE, EASYSample collection
ADVANCED TECHNOLOGYFor results you can trust
FAST, CLEAR REPORTINGWith support from our team
Ordering InformationPlease contact us for more information, including how to order the Panorama Prenatal Screen. Contact us on 086 163 3337 (Operating Hours: Mon - Fri 08H00-17h00.) Or email at [email protected] For Genetic Counselling (pre/post), please contact Dr Karen Milstein, Clinical Geneticist at 086 152 6238 or email: [email protected].
References:1. Pergament et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-8. doi: 10.1097/AOG.0000000000000363.2. Dar et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism based noninvasive prenatal aneuploidy testing. Am J Ob & Gyn 2014; 211(5):527e1-527 e17.3. Norton et al. Cell-free DNA Analysis for Noninvasive Examination of Trisomy. N Engl J Med 2015; 372:1589-1597.4. Nicolaides 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;33(6):575-9. doi: 10.1002/ pd.4103.5. Ryan et al. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagn Ther. 2016;40(3):219-223.6. Martin et al. Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions. Clin Genet. 2018; 93(2):293-300.7. Ravi et al. Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples. PLoS One. 2018 Feb 23;13(2):e0193476. doi: 10.1371/journal.pone.0193476.8. Wapner et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015; 212(3): 332.e1-9.9. ACOG and SMFM Joint Committee Opinion: Cell-Free DNA Screening for Fetal Aneuploidy, Number 640, Sept 2015.10. Gregg et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet in Med May 2013; 15(5).11. Curnow et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism based noninvasive prenatal test. Am J Obstet Gynecol 2015; 212(1): 79.e1-79.e9.12. Futch et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569-74.13. Wang et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60(1):251-9.14. Simon et al. Detection of a complete molar pregnancy by single nucleotide polymorphism-based noninvasive prenatal testing. Ultrasound Obstet Gynecol 2015; 46(4):506-7.15. Nicolaides et al. Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther. 2014;35(3):212-7. doi: 10.1159/000355655.16. Wright et al. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015; 45: 48� 54.doi: 10.1002/uog.1469417. Canick et al.The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common foetal aneuploidies.Prenat Diagn. 2013 Jul;33(7):667-74. doi: 10.1002/pd.4126.
Disclaimer: This test was developed by Natera, Inc., a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA). Natera and Panorama are trademarks of Natera Inc. used with permission.
The next generation of non-invasive prenatal screening
High Risk**
Sensitivity
Validation1T21, T18, T13 and MX
Clinical Outcomes2T21, T18, T13 and MX
Average Risk**
Specificity PPV*(Aneuploidy Incidence)
98.0%(98/100)
99.5%(389/391)
82.9%(2.4%)
> 99%(5/5)
100%(469/469)
87.2%(1.0%)
design done and printed by: ELECTRONIC LABORATORY SERVICES (PTY) LTD PRINT BUREAU
corporate branding/brochures/sa/2018/B00055 physician fact sheet 630mmx297mm eng duplex labelnet jun2018.cdr | rev000
ITEM CODE: B00055
Panorama targets single nucleotide polymorphisms (SNPs) in cell-free DNA (cfDNA)
Measuring foetal fraction is critical for high confidence NIPT resultsCounting methodologies' ability to detect abnormalities decreases below 8% foetal fraction, which may
16,17increase false negative results.
Notes: * Representative comparison between expected and observed for a single chromosome. Fraction of cfDNA that is foetal is a key component, with trisomy becoming easier to detect at higher foetal fractions.
12 Excess maternal DNA could lower the sensitivity of the test.
Disomy 21
Trisomy 21
Counting methods rely on the expected vs observed amount of DNA from the chromosome of interest. At lower foetal fractions, it is more challenging to see the difference between the usual two copies and the presence of a trisomy.
Compared to First Trimester Screening, Panorama has higher sensitivity and lower false positive rates for the conditions screened.
Highly accurate and comprehensive screening
PPV: 91%*With NIPT, women will undergo invasive 10
2testing to discover true positives.9
* Specific to Trisomy 21
A superior first-line screening test for all women
PPV: 3 - 4%Maternal serum screening
would require women to undergo 265invasive testing to discover 9
9true positives.
Higher positive predictive value (PPV) = Less anxiety for patients
TRADITIONAL SCREENING NON-INVASIVE PRENATAL TESTING (NIPT)
Condition
Trisomy 21Down Syndrome
79%5%
Trisomy 18Edwards Syndrome
80%0.3%
Trisomy 13Patau Syndrome
50%0.3%
1,4,5,6,7,8,15Panorama3First Trim. Screen
Sensitivity False Positive Rate
SensitivityFalse Negative Rate
Monosomy XTurner Syndrome Does not screen
Triploidy Does not screen
Female
Optional Microdeletion Syndromes
Does not screen
Male Does not screen
> 99%< 0.1%
98.2%< 0.1%
> 99%< 0.1%
94.7%< 0.1%
> 99%
> 99.9%< 0.1%
> 99.9%< 0.1%
22q11.2 deletion DiGeorge syndrome
Additional microdeletions(Angelman, Cri-du-chat, 1p36
deletion & Prader-Willi)
Does not screen
Does not screen
90.0%0.07%
93.8 - > 99%0.07%
9Discussing NIPT with your patients, per ACOG guidelines
* Compared to serum screening
Panorama�s advantages, when compared to traditional maternal serum screening
Non-invasive method with more informative results
�Testing for chromosome abnormalities is optional.�
�If you would like to know the risk of your baby having a chromosome abnormality,
screening options are available.�
�If you want to know for sure about chromosome
abnormalities you can opt for diagnostic testing.�
Least Information
Ben
efit
s
Most Information
No Testing
� Less anxiety for women who may worry about testing
� No difficult decisions to make in case of abnormal results
Traditional Serum Screen NIPT
� Non-invasive � If performed in 2nd trimester, screens for certain birth defects like spina bifida
� Non-invasive � Screens for more conditions* � Higher sensitivity & positive predictive value* � Most women receive low risk results, thereby reducing anxiety � Screen as early as 9 weeks gestation
CVS/Amnio
� Definitive results � More comprehensive than NIPT or serum screening
� Ability to plan for baby�s care in case of abnormal results
Higher sensitivity for the conditions
screened
Fewer false positivesFewer unnecessary
10invasive procedures
More conditions includedMore informative results
High accuracy through SNP-based NIPT methodology
REDUCES FALSE POSITIVES COMPARED TO OTHER NIPT METHODS
EVALUATES CONDITIONS ASSOCIATED WITH COMPLICATIONS FOR MOM
VANISHING TWINOnly Panorama can identify a vanishing twin, which may contribute to > 15% of false positive
11,12results with other NIPTs.
199.9% FOETAL SEX ACCURACYNo incorrect gender calls in validation studies. Less anxiety and unnecessary work-up for patients.
MATERNAL ABNORMALITIESOnly Panorama minimises the chance that a maternal abnormality leads to a false positive result. This is a significant cause of false positives
13when using other NIPTs.
TRIPLOIDYOnly Panorama identifies triploidy, which is often associated with stillbirth, severe birth defects
15and pre-eclampsia.
COMPLETE MOLAR PREGNANCYOnly Panorama identifies complete molar pregnancy, which can be associated with pre-eclampsia, haemorrhage and gestational trophoblastic neoplasia, and rarely metastatic
14choriocarcinoma.
� Inability to plan medically, financially & emotionally
� Missed opportunity to engage with specialists & community support resources
� Not diagnostic � Limited to Trisomy 21, 18 and 13 � Lower sensitivity, higher false positive rate and lower positive predictive value than NIPT
� Not diagnostic; false positives and false negatives do occur
� Does not screen for all chromosome abnormalities � May not be able to report results in a small number of patients
� Invasive; small risk of miscarriage
� Amnio results not available until 2nd trimester
� Possible results of uncertain significanceLi
mit
atio
ns
MATERNAL BLOOD
MATERNAL + FOETAL cfDNA
Disomy Trisomy Disomy
SNP SEQUENCING OF MATERNAL
+ FOETAL GENOTYPE
ADVANCED BIOINFORMATICS
REPORT
Personalised risk score and foetal fraction for all results;
PPV for high risk results