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New Approach to Routine Prenatal Genetic Testing

Researchers demonstrate the viability of an approach to routinely detect the presence of fetal DNA in a mother's blood to accurately diagnose or rule// out genetic defects - as early as the first trimester. The study results were presented at the 27th Annual Meeting of the Society for Maternal-Fetal Medicine being held in San Francisco.

This future diagnostic technology, currently under development at Sequenom, Inc. (Nasdaq: SQNM), shows promise that a universal alternative to such invasive genetic screening procedures as amniocentesis and chorionic villus sampling, may be available in the future.

These implications are important to women with high-risk pregnancies, in that this future non-invasive screening technique will have significant benefit to all expectant mothers, especially on the heels of new guidelines endorsed by the American College of Obstetricians and Gynecologists (ACOG) that call for risk assessment of all pregnancies for fetal chromosomal abnormalities.

Previous guidelines recommended testing women 35 years and older using amniocentesis or chorionic villus sampling, both considered invasive procedures that carry risks. ACOG now recommends screening before the 20th week of pregnancy using a less invasive screening option that includes ultrasound in conjunction with the measurement of certain blood hormones.

Invasive techniques involve sampling amniotic fluid that surrounds the baby in the uterus or tissue sampling of the placenta. Sequenom's proprietary Fetal Nucleic Acid Technology, currently being developed, may be applicable to a range of non-invasive prenatal tests that use a mother's blood sample for fetal genetic screening. Sequenom's technology, based in part on the foundational research of Professors Dennis Lo and James Wainscoat while at the University of Oxford, isolates and analyzes circulating fetal nucleic acid from a maternal blood sample.

In the opinion of Dr. Kenneth Moi
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