2
Pioneering science. Professional service. An NIPT for every pregnancy. Rep 1035 v1 0117 References 1. American College of Obstetricians and Gynecologists (2004). Retrieved April 29, 2016, from http://www.acog.org/~/media/Departments/Practice/ProfileofOb- gynPractice1991-2003.pdf?dmc=1&ts=20140216T0236326521 2. Genetics Home Reference. (2012, June). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/down-syndrome#statistics 3. Genetics Home Reference. (2012, March). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/trisomy-18#statistics 4. Genetics Home Reference. (2013, November). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/trisomy-13#statistics 5. Genetics Home Reference. (2012, January). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/turner-syndrome#statistics 6. Genetics Home Reference. (2013, January). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/klinefelter-syndrome#statistics 7. Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/triple-x-syndrome#statistics 8. Genetics Home Reference. (2009, January). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/47xyy-syndrome#statistics 9. Genetics Home Reference. (2013, July). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/22q112-deletion-syndrome#statistics 10. Genetics Home Reference. (2014, February). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/cri-du-chat-syndrome#statistics 11. Genetics Home Reference. (2014, January). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/1p36-deletion-syndrome#statistics 12. Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/prader-willi-syndrome#statistics 13. Genetics Home Reference. (2015, May). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/angelman-syndrome#statistics 14. Genetics Home Reference. (2015, September). Retrieved April 27, 2016, from https://ghr. nlm.nih.gov/condition/jacobsen-syndrome#statistics 15. Genetics Home Reference. (2009, February). Retrieved April 27, 2016, from https://ghr.nlm. nih.gov/condition/langer-giedion-syndrome#statistics 16. Genetics Home Reference. (2012, April). Retrieved April 27, 2016, from https://ghr.nlm.nih. gov/condition/wolf-hirschhorn-syndrome#statistics 17. Disorders of Chromosome 16 Foundation. (2011). Retrieved April 27, 2016, from http://www. trisomy16.org/about/what_are_doc16.html 18. Heinrich, T., et al. “Live-Born Trisomy 22: Patient Report and Review.” 3.6 (2013): n.pag. Web. 10 Jan. 2017. 19. Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011;13(11):913-920. 20. Palomaki GE, 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(3):296-305. 21. Norton ME, et al. Non-invasive chromosomal evaluation (nice) study: results of a multicenter, prospective, study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;207:137. e1-8. 22. Bianchi DW, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119(5):890-901. 23. Pergament E, 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):210-218. 24. Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-4. 25. Mazloom, A., et al. Accuracy of Noninvasive Prenatal Sex Determination using Massively Parallel Sequencing in Samples from a Large Clinical Validation Study. Poster presented at American Society of Human Genetics Annual Meeting; 2012 Nov 6 – 10; San Francisco, CA. 26. Mazloom AR, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591-7. 27. Porreco RP, et al. Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-128. 28. Helgeson J, et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015 Jul;35(10):999-1004. Toll free (within the US) at 877.821.7266 [email protected] | www.sequenom.com Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121 View short videos on genetic testing: sequenom.com/videos Sequenom Center for Molecular Medicine, LLC d/b/a Sequenom Laboratories, a wholly owned subsidiary of Sequenom, Inc., is a CAP-accredited and Clinical Laboratory Improvement Amendment (CLIA)-certified molecular diagnostics laboratory dedicated to improving patient outcomes by offering revolutionary laboratory-developed tests for a variety of prenatal conditions. Sequenom, Inc. is a wholly owned subsidiary of Laboratory Corporation of America Holdings. Sequenom®, Sequenom Laboratories™, and MaterniT®, are trademarks of Sequenom, Inc. Test name Test number MaterniT 21 PLUS 451927 MaterniT 21 PLUS with ESS* 451931 MaterniT 21 PLUS with SCA** 451934 MaterniT 21 PLUS with ESS and SCA 451937 * Enhanced Sequencing Series ** Sex chromosome aneuploidies

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Page 1: Pioneering science. Professional service. An NIPT for ... · Pioneering science. Professional service. An NIPT for every pregnancy. Rep 1035 v1 0117. References. 1. American College

Pioneering science.Professional service.

An NIPT for every pregnancy.

Rep 1035 v1 0117

References1. American College of Obstetricians and Gynecologists (2004). Retrieved April

29, 2016, from http://www.acog.org/~/media/Departments/Practice/ProfileofOb-gynPractice1991-2003.pdf?dmc=1&ts=20140216T0236326521

2. Genetics Home Reference. (2012, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/down-syndrome#statistics

3. Genetics Home Reference. (2012, March). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/trisomy-18#statistics

4. Genetics Home Reference. (2013, November). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/trisomy-13#statistics

5. Genetics Home Reference. (2012, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/turner-syndrome#statistics

6. Genetics Home Reference. (2013, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/klinefelter-syndrome#statistics

7. Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/triple-x-syndrome#statistics

8. Genetics Home Reference. (2009, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/47xyy-syndrome#statistics

9. Genetics Home Reference. (2013, July). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#statistics

10. Genetics Home Reference. (2014, February). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#statistics

11. Genetics Home Reference. (2014, January). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome#statistics

12. Genetics Home Reference. (2014, June). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/prader-willi-syndrome#statistics

13. Genetics Home Reference. (2015, May). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/angelman-syndrome#statistics

14. Genetics Home Reference. (2015, September). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/jacobsen-syndrome#statistics

15. Genetics Home Reference. (2009, February). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/langer-giedion-syndrome#statistics

16. Genetics Home Reference. (2012, April). Retrieved April 27, 2016, from https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome#statistics

17. Disorders of Chromosome 16 Foundation. (2011). Retrieved April 27, 2016, from http://www.trisomy16.org/about/what_are_doc16.html

18. Heinrich, T., et al. “Live-Born Trisomy 22: Patient Report and Review.” 3.6 (2013): n.pag. Web. 10 Jan. 2017.

19. Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011;13(11):913-920.

20. Palomaki GE, 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(3):296-305.

21. Norton ME, et al. Non-invasive chromosomal evaluation (nice) study: results of a multicenter, prospective, study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;207:137. e1-8.

22. Bianchi DW, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119(5):890-901.

23. Pergament E, 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):210-218.

24. Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-4.

25. Mazloom, A., et al. Accuracy of Noninvasive Prenatal Sex Determination using Massively Parallel Sequencing in Samples from a Large Clinical Validation Study. Poster presented at American Society of Human Genetics Annual Meeting; 2012 Nov 6 – 10; San Francisco, CA.

26. Mazloom AR, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591-7.

27. Porreco RP, et al. Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-128.28. Helgeson J, et al. Clinical outcome of subchromosomal events detected by whole-genome

noninvasive prenatal testing. Prenat Diagn. 2015 Jul;35(10):999-1004.

Toll free (within the US) at 877.821.7266 [email protected] | www.sequenom.com Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121

View short videos on genetic testing: sequenom.com/videos

Sequenom Center for Molecular Medicine, LLC d/b/a Sequenom Laboratories, a wholly owned subsidiary of Sequenom, Inc., is a CAP-accredited and Clinical Laboratory Improvement Amendment (CLIA)-certified molecular diagnostics laboratory dedicated to improving patient outcomes by offering revolutionary laboratory-developed tests for a variety of prenatal conditions. Sequenom, Inc. is a wholly owned subsidiary of Laboratory Corporation of America Holdings. Sequenom®, Sequenom Laboratories™, and MaterniT®, are trademarks of Sequenom, Inc.

Test name Test number

MaterniT 21 PLUS 451927

MaterniT 21 PLUS with ESS* 451931

MaterniT 21 PLUS with SCA** 451934

MaterniT 21 PLUS with ESS and SCA 451937

* Enhanced Sequencing Series ** Sex chromosome aneuploidies

Page 2: Pioneering science. Professional service. An NIPT for ... · Pioneering science. Professional service. An NIPT for every pregnancy. Rep 1035 v1 0117. References. 1. American College

Highly reliable, extensively validatedThe MaterniT 21 PLUS test offers very low published and commercial non-reportable rates for trisomies 13, 18, and 21.

The MaterniT 21 PLUS test has been validated in clinical studies that tested samples from more than 2,100 pregnant women. The table below shows values for aneuploid samples in patients across four clinical studies, and accuracy for fetal sex within an additional publication.

Positive results Sensitivity Specificity

210 of 212 - trisomy 2119, 20 99.1% 99.9%

59 of 59 - trisomy 1820 > 99.9% 99.6%

11 of 12 - trisomy 1320 91.7% 99.7%

8 of 8 multiple gestations:7 of trisomy 21 | 1 of trisomy 1324

> 99.9% detection rate

Fetal sex25 99.4% accuracy

25 of 26 combined sex chromosome aneuploidies26

96.2% 99.7%

In a high-risk group, MaterniT 21 PLUS showed a positive predictive value greater than 97.9% for trisomy 21.27

Reports on select microdeletions including DiGeorge syndrome

In addition to common trisomies and sex chromosome aneuploidies, MaterniT 21 PLUS reports on clinically relevant microdeletions including 22q (DiGeorge syndrome), one of the most commonly occurring microdeletions.9 In testing 175,393 samples, 55 subchromosomal deletions were reported, and there was a total false positive rate of 0.0017% for confirmed false positive results.28

Multiple gestationsMaterniT 21 PLUS can detect chromosomal abnormalities in multiple gestational pregnancies. However, the test cannot determine which baby may be affected.

Clear results as early as nine weeksThe test can be performed at just nine weeks gestation, with results typically returned in five days. Results are easy to understand, with trisomies 21, 18, and 13 resulted as positive or negative. Microdeletions, sex chromosomal aneuploidies, and trisomies 16 and 22 are reported as additional findings.

Professional services complement our pioneering science…

Rapid resultsOvernight shipping of samples is available with a typical turnaround time of about five days after a test arrives at our labs.

Cost estimatorSend any patient with billing questions to our online cost estimator for answers and an estimate based on her specific insurance.

Convenient blood drawsBlood draws just got easier for you and your patients. We are now part of LabCorp and have a nationwide network of patient service centers, allowing for convenient access to sample collection. Visit www.LabCorp.com to find your nearest location.

Genetic counselingPatients with a positive test result may be offered counseling, and Sequenom and Integrated Genetics offer the largest national commercial network of genetic counselors to help inform and support patients.

Every Mom PledgeWe believe every mom should have access to the best possible care. That’s why we work directly with every patient to make sure our testing services are both accessible and affordable, no matter what.

MaterniT® 21 PLUS can screen for chromosomal abnormalities such as trisomies 21, 18, and 13, and screen for fetal sex. It was also one of the first NIPTs to screen for clinically relevant microdeletions, sex chromosome aneuploidies, and trisomies 16 and 22. These chromosomal abnormalities can impact any pregnancy, regardless of age or family history.

Why more matters

Finding more matters because the average OBGYN, according to ACOG,1 sees over 90 patients every week. Although the individual chromosomal abnormalities detected by MaterniT 21 PLUS are rare, when considered as a whole, these abnormalities may affect some patients of any OBGYN practice. MaterniT 21 PLUS may help more patients proactively manage their pregnancies and provide better care for their newborns.

Base test Estimated live births affected

Fetal sex N/A

Trisomy 21 (Down syndrome) 1 in 8002

Trisomy 18 (Edwards syndrome) 1 in 5,0003

Trisomy 13 (Patau syndrome) 1 in 16,0004

Sex chromosome aneuploidies*

45,X (Turner syndrome)* 1 in 2500 (girls)5

47,XXY (Klinefelter syndrome)* 1 in 500 to 1,000 (boys)6

47,XXX (Triple X syndrome)* 1 in 1000 (girls)7

47,XYY (XYY syndrome)* 1 in 1000 (boys)8

Enhanced Sequencing Series* (clinically relevant microdeletions)

22q (DiGeorge syndrome) 1 in 4,0009

5p (Cri-du-chat syndrome) 1 in 20,000 to 50,00010

1p36 deletion syndrome 1 in 5,000 to 10,00011

15q (Prader-Willi syndrome) 1 in 10,000 to 30,00012

15q (Angelman syndrome) 1 in 12,000 to 20,00013

11q (Jacobsen syndrome) 1 in 100,00014

8q (Langer-Giedion syndrome) Rare15

4p (Wolf-Hirschhorn syndrome) 1 in 50,00016

Trisomy 16 Rare (almost all cases result in miscarriage)17

Trisomy 22 Rare (almost all cases result in miscarriage)18

* Reported as an additional finding; you may opt in to order this information.

5.8 22

8.1 23

50 100

4.6 21

MaterniT 21 PLUS 0.9 19, 20

Other tests

More than 600,000 tests run to date