SAN DIEGO, Sequenom, Inc. today announced that a new publication of an independent multi-center study on Sequenom Center for Molecular Medicine’s MaterniT21™ laboratory-developed test (LDT) appears today in the online issue of Genetics in Medicine. The study demonstrated the LDT can detect fetal trisomy 21, 18 and 13 with high accuracy from a maternal blood sample and will be published in the March issue. The full results of the study can be found online at https://journals.lww.com/geneticsinmedicine/.

“Together with the previously published results on the test’s ability to detect trisomy 21 with high accuracy, this publication provides further evidence that this valuable non-invasive technology can identify nearly all cases of T18 and T13, as well as T21, at a low false positive rate,” said Harry F. Hixson, Jr., Ph.D., Chairman and CEO, Sequenom, Inc. “This research continues to validate the use of our MaterniT21 LDT as a valuable tool in the care of pregnant women who are at high risk for fetal aneuploidy.”

The published results represent a large international, multi-center study conducted at 27 prenatal diagnostic centers. Participating sites collected and processed maternal plasma samples from 4,664 pregnant women at high risk for fetal aneuploidy undergoing diagnostic testing in the late first and early second trimester. The results of a blinded testing of 212 pregnancies with trisomy 21 and their 1,484 matched controls were previously published in Genetics in Medicine. During that same testing period, blinded samples from pregnancies with trisomy 18 and trisomy 13 and their controls were also tested. Inclusion criteria were the same as for the earlier study of trisomy 21.

A total of sixty-two trisomy 18 and twelve trisomy 13 pregnancies along with their matched controls (including the trisomy 21 cases and matched controls) were tested using the MaterniT21 LDT. When unblinded, the detection rate for trisomy 18 was 100 percent and for trisomy 13, was 91.7 percent, with false positive rates of 0.28 and 0.97 percent, respectively.

The research was led by Jacob Canick, PhD, and Glenn Palomaki, PhD, of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital and The Warren Alpert Medical School of Brown University, and included scientists at Sequenom Center for Molecular Medicine, San Diego, CA, and an independent academic laboratory at the University of California at Los Angeles. The MaterniT21 test is available exclusively through Sequenom CMM as a testing service to physicians.

An estimated 1,330 cases of trisomy 18 and 600 cases of trisomy 13 are expected at term among the estimated 4.25 million pregnancies in the United States each year.

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at https://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

About Sequenom CMM

Sequenom Center for Molecular Medicine® (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, is developing a broad range of diagnostics with a focus on prenatal diseases and conditions. These laboratory-developed tests provide beneficial patient management options for obstetricians, geneticists and maternal fetal medicine specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.