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Illumina’s Non-Invasive verifi® Prenatal Test Using cfDNA Significantly Reduces False Positive Rate of Fetal Aneuploidy Detection Compared to Current Standard Pregnancy Screening Practices

Study Results Published in New England Journal of Medicine Show the verifi® Prenatal Test Achieves Positive Predictive Value Tenfold Higher Than Current Standard of Care

SAN DIEGO--(BUSINESS WIRE)--Feb. 26, 2014-- Illumina, Inc. (NASDAQ: ILMN) today announced that in a direct comparison of non-invasive prenatal testing (NIPT) using cell free DNA (cfDNA) to standard prenatal aneuploidy screening in a general obstetrical population, the verifi® prenatal test1 significantly reduced the rate of false positive results for the detection of fetal trisomies 21 and 18. In addition, the study demonstrated that the verifi® prenatal test performs consistently well in all pregnant women, regardless of their risk level for fetal aneuploidy.

The results of the study, entitled “DNA Sequencing versus Standard Prenatal Aneuploidy Screening,” are available online today in The New England Journal of Medicine and the full article can be accessed at www.verifitest.com/news-events. The paper will be included in the February 27, 2014 print edition.

“The study reflects the diverse clinical screening practices and ethnic variation present throughout the United States, and effectively answers questions from the medical and scientific communities regarding the positive predictive value (PPV) of the verifi® prenatal test in the general obstetric population,” said Diana W. Bianchi, M.D., Executive Director of the Mother Infant Research Institute at Tufts Medical Center, and lead author of the publication. “In addition to the significant increase in PPV, the study shows similar fetal fraction distributions in both high- and low-risk pregnant women. Thus, from both a biological and technical perspective, the verifi® prenatal test performs well in pregnant women of all risk levels.”

The prospective, multi-center, blinded study analyzed samples from 1,914 pregnant women (mean age 29.6 years) at all risk levels for fetal chromosome abnormalities. The false positive rate for detection of trisomy 21 with the verifi® prenatal test was significantly lower than conventional standard screening (6/1909, 0.3% vs. 69/1909, 3.6%, p<0.0001). For trisomy 18, the verifi® prenatal test also demonstrated a lower false positive rate when compared to standard testing (3/1905, 0.2% vs. 11/1905, 0.6%, p=0.0325). Importantly, the study showed a tenfold improvement in the PPV for the verifi® prenatal test (45.4%) when compared to standard screening for trisomy 21 (4.2%) and a fivefold improvement in PPV for trisomy 18 (40% vs. 8.3%). Both the verifi® prenatal test and standard screening correctly detected all cases of trisomies 21 and 18. For all of the women enrolled in the study, pregnancy outcome and neonatal follow-up data were obtained, including physical examinations and karyotypes, if performed.

“The results of this study demonstrate that the verifi® prenatal test could significantly improve clinical practice by reducing the number of invasive procedures needed to clarify false positive results obtained with standard screening,” said Richard Rava, Ph.D., Vice President, Research and Development for Reproductive and Genetic Health at Illumina. “In this study using the verifi® prenatal test, we have shown a tenfold improvement in the PPV for trisomy 21 over conventional screening methods. Importantly, the performance of NIPT using cfDNA in a general obstetric population, representative of contemporary clinical practice in the US, is equivalent to previously demonstrated performance in high-risk pregnant women.”

Illumina’s Reproductive and Genetic Health solutions use next-generation sequencing (NGS) technology and advanced microarrays to generate comprehensive, accurate genomic information to assist healthcare providers and patients in making informed decisions for their reproductive health and well-being. Illumina offers the non-invasive verifi® prenatal test (formerly offered by Verinata Health, Inc.) in their CLIA-certified, CAP-accredited clinical services laboratory, to detect chromosome abnormalities and aberrations with improved resolution for consistent and dependable results.

About Illumina

Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare.

Forward-Looking Statements

This release may contain forward looking statements that involve risks and uncertainties. Important factors that could cause actual results to differ materially from those in any forward-looking statements are detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We do not intend to update any forward-looking statements after the date of this release.

1 The verifi® prenatal test is a non-invasive blood test that analyzes DNA found in a pregnant woman’s blood to detect the most common fetal chromosome abnormalities, including Down syndrome (trisomy 21 or T21), Edwards syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13) and sex chromosome abnormalities.

Source: Illumina, Inc.

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