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Noninvasive Prenatal Testing Options for All NONINVASIVE PRENATAL TESTING OPTIONS FOR ALL Clearly revolutionary. Simply relevant. Results you can trust from the pioneer in noninvasive prenatal testing. QUALITY OF SCIENCE™ MORE OPTIONS FOR YOUR PATIENTS. Noninvasive prenatal testing (NIPT) was pioneered by Sequenom Laboratories in 2011, and since then, several hundred thousand pregnant women worldwide have beneited. Many have avoided potentially unnecessary invasive procedures while still gaining important information about the health of their pregnancies. With our recent scientiic advancements, we have enabled noninvasive prenatal testing to reach even more pregnant women looking for relevant genetic information about their pregnancy. Sequenom Laboratories is the irst provider to ofer two distinct noninvasive prenatal testing choices with the MaterniT21 PLUS and the VisibiliT laboratory-developed tests. TESTED FOR ACCURACY USING RIGOROUS STANDARDS OF SCIENCE FOR ALL LABORATORY-DEVELOPED TEST LABORATORY-DEVELOPED TEST For those who want information about common fetal trisomies, For those who want to know as much as they can noninvasively, we have the VisibiliT test. Patients who would beneit include we have the MaterniT21 PLUS premium test. Patients who would those who: beneit include those who: • Have single gestation pregnancies and are considered to be • Seek additional, detailed genetic information, such as average risk microdeletions or fetal sex aneuploidies • Want to know common genetic information • Are at increased risk for fetal chromosomal abnormalities • Desire high accuracy for trisomy 21 (Down syndrome) and • Have single or multiple gestation pregnancies trisomy 18 (Edwards syndrome) COMPREHENSIVE CONTENT SELECTIVE CONTENT WITH A PERSONALIZED The MaterniT21 PLUS test analyzes more chromosomal regions RISK SCORE than any other noninvasive prenatal test, to date. Genomic The VisibiliT test was designed to mirror the common fetal regions and corresponding syndromes include: trisomies provided by current serum screening tests. Detection • Trisomy 21 (Down syndrome) • Trisomy 22 rates for serum screening range from 69-96% with a 5% positive • Trisomy 18 (Edwards syndrome) • 22q (DiGeorge syndrome) screen rate.1 • Trisomy 13 (Patau syndrome) • 5p (Cri-du-chat syndrome) • Trisomy 21 and trisomy 18 individualized risk assessment • Fetal gender • 1p36 deletion syndrome • High risk results indicate >1/100 chance for a trisomy • 45,X (Turner syndrome) • 15q (Prader-Willi/Angelman • Fetal gender reported unless requested otherwise • 47,XXY (Klinefelter syndrome) syndromes) • Very low false positive rate • 47,XXX (Triple X syndrome) • 11q (Jacobsen syndrome) • Less than 1.5% non-reportable rate in laboratory testing • 47,XYY (XYY syndrome) • 8q (Langer-Giedion syndrome) • Trisomy 16 • 4p (Wolf-Hirschhorn syndrome) 2 CLINICAL EVALUATION PERFORMANCE CLEAR AND SIMPLE RESULTS Sensitivity Specificity • Positive or negative result for T21/T18/T13 >99% (21 of 21) >99.9% (1,048 of 1,048) • Additional Findings result for fetal sex aneuploidies/ Trisomy 21 95% CI (80.8-100%) 95% CI (99.5-100%) T22/T16/select microdeletions • Optional reporting for fetal gender/fetal sex aneuploidies/ >99% (10 of 10) >99.9% (1,048 of 1,048) Trisomy 18 select microdeletions 95% CI (65.6-100%) 95% CI (99.5-100%) • Less than 1.5% commercial non-reportable rate 99.3% accuracy (1041 of 1048) 4,5,6,7 Fetal gender INDEPENDENT VALIDATION PERFORMANCE 95% CI (98.6-99.7%) Positive results Sensitivity Specificity An additional laboratory validation study, consisting of over 400 blinded clinical samples (including 40 trisomy 21 and 10 Trisomy 21 210 of 212 99.1% 99.9% trisomy 18 samples), resulted in a sensitivity and speciicity Trisomy 18 59 of 59 >99.9% 99.6% of greater than 99%, consistent with the clinical evaluation performance.3 Trisomy 13 11 of 12 91.7% 99.7% Fetal gender 99.4% accuracy Turnaround time for results in about 5 days from receipt of sample in our laboratory. Multiple 8 of 8 trisomies >99.9% detection rate gestations Fetal sex 25 of 26 combined 96.2% 99.7% aneuploidies Enhanced Sequencing 17 of 18 94.4% 99.4% Series algorithm Turnaround time for results in about 5 days from receipt of sample in our laboratory. ABOUT THE COMPANY ABOUT THE TESTS Sequenom Laboratories, a wholly owned The MaterniT21® PLUS and VisibiliT™ tests are laboratory-developed subsidiary of Sequenom, Inc., is a CAP- tests that were developed, validated and performed exclusively by accredited and CLIA-certiied molecular Sequenom Laboratories in the USA. They have not not been cleared diagnostics laboratory dedicated to or approved by the U.S. Food and Drug Administration (FDA). Although improving patient outcomes by ofering laboratory-developed tests to date have not been subject to U.S. FDA revolutionary laboratory-developed regulation, certiication of the laboratory is required under the U.S. tests for a variety of prenatal conditions. Clinical Laboratory Improvement Amendments (CLIA) to ensure the Sequenom Laboratories pioneered NIPT quality and validity of the tests. Sequenom Laboratories is certiied under with the launch of its MaterniT21 PLUS CLIA as qualiied to perform high complexity clinical laboratory testing test for fetal abnormalities, and ofers a and accredited by the College of American Pathologists (CAP). broad menu of prenatal tests. No test is perfect. DNA test results do not provide a deinitive genetic Sequenom® , MaterniT21® PLUS, and risk in all individuals. Cell-free DNA does not replace the accuracy and VisibiliT™ are trademarks of Sequenom, precision of prenatal diagnosis with CVS or amniocentesis. A patient Inc. and used with permission by with a positive test result or an Additional Finding should be referred Sequenom Center for Molecular for genetic counseling and ofered invasive prenatal diagnosis for Medicine, LLC, dba Sequenom conirmation of test results. A negative test result does not ensure Laboratories. an unafected pregnancy. The absence of an Additional Finding does not indicate a negative result. While results of this testing are ©2015 Sequenom Laboratories. highly accurate, not all chromosomal abnormalities may be detected All rights reserved. due to placental, maternal or fetal mosaicism, or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. The health care provider is responsible for the use of this information in the management of their patient. REFERENCES 1. Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin; Number 77, January 2007. 2. Kim S, et al. Application of risk-score analysis to low-coverage sequencing data for noninvasive detection of trisomy 21 and trisomy 18. Poster presented at the 18th International Conference on Prenatal Diagnosis and Therapy; July 2014; Brisbane, Australia. 3. Sequenom Laboratories internal data. 4. Palomaki GE, et al. DNA sequencing of maternal plasma reliably identiies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012;14(3):296-305. 5. Mazloom AR, Dzakula Z, Oeth P, Wang H, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013;33(6):591-597. 6. Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-734. 7. Zhao C, et al. Detection of fetal subchromosomal abnormalities by sequencing CCF from maternal plasma. Poster presented at the ACMG Annual Clinical Genetics Meeting; March 2014; Nashville, TN. Tel: +34 (93) 7272233 www.cerba.com 36-20238R3.56 0415.
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