Early insight gives rise to a world of possibilities

Sequenom, a leader in genetic analysis products, is developing diagnostic products to improve the healthcare of women. Our commercial objective is to make safe, non-invasive prenatal testing available to all women, independent of age and other factors that may contribute to pregnancy complications.

Our research and development team, in collaboration with the world’s leading experts in prenatal genetic medicine, are working on technologies and methodologies that will provide accurate information to women, their physicians, and genetic counselors. We anticipate that these technologies and methodologies may be utilized early in pregnancy, reduce the need for amniocentesis and contribute to the care and prevention of birth defects.

Sequenom’s technology, SEQureDx^TM, is based on the work of Professor Dennis Lo, and isolates and analyzes circulating fetal nucleic acid from a maternal blood sample. The technology has particular promise for developing new, non-invasive tests for fetal gene and chromosome abnormalities such as RhD, fetal sex determination and Trisomy - including trisomy 21. Through key partnerships with genetic testing laboratories, the first test using SEQureDx technology, fetal RhD, became available in 2007.

By applying our novel technology to frequently encountered diagnostic problems in pregnancy and reproduction, Sequenom believes it can create a new standard of care to assist women, their families and their physicians with better tools to achieve the best pregnancy outcomes.

For years, doctors have used tests such as amniocentesis or chorionic villus to determine the health of a fetus.

The introduction of Sequenom’s Fetal Nucleic Acid Technology has the potential to be the long-sought-after alternative to these common procedures. That’s because the Sequenom technology is both non-invasive, thereby posing no risk to the baby, and has the possibility to be performed earlier in the pregnancy. Early diagnosis is important because it can help doctors to identify patients at risk sooner and provide treatment where possible.

According to Dr. Kenneth Moise, Professor of Obstetrics and Gynecology and a specialist in Maternal-Fetal Medicine at Baylor College of Medicine in Houston, Texas, this is a major breakthrough in prenatal medicine.