Sequenom, Inc. has announced the approval of a protocol by the Institutional Review Board (IRB) at San Diego-based Sharp HealthCare, clearing the way to commence patient enrollment in a screening study to clinically assess the Company's noninvasive cell free fetal nucleic acid SEQureDx™ Technology for the detection of fetal aneuploidy, including Down syndrome, using a laboratory developed test (LDT).
More than 2.7 million pregnancies are evaluated annually in the United States to assess the risk of Down syndrome by various screening methods, which are comprised of surrogate serum markers in combination with ultra-sonographic methods. These risk assessment protocols result in the referral of approximately 5% of normal pregnancies to be screened through invasive procedures, such as amniocentesis, to help rule out the chances of an affected pregnancy for Down syndrome.
Sequenom's SEQureDx Technology, to be evaluated in this screening study, provides a direct genetic assessment of Down syndrome using a noninvasive maternal blood sample collected in the first or second trimester of pregnancy.
The expected benefits of this approach are to improve current detection rates, while reducing the number of patient referrals (false positives) to the invasive procedures and fetal losses due to the procedures, which are currently employed in prenatal screening programs throughout the U.S.
"This clinical assessment represents an important milestone in our prenatal genetic testing development program and keeps us on track with our plan to introduce an LDT for Down syndrome in late 2009," said Harry Stylli, Ph.D., Sequenom's President and Chief Executive Officer. "Our SEQureDx Technology-based noninvasive screening method, if verified, could revolutionize Down syndrome prenatal screening."
"Sequenom's technology for Down syndrome screening offers great promise for how we manage our obstetric population within the Sharp HealthCare system and the nation. It will greatly improve the quality of prenatal screening and, ultimately, will reduce the need for invasive prenatal diagnosis - a significant source of anxiety for pregnant women," said Allan Bombard, MD, a reproductive geneticist with more than two decades of experience in the field of prenatal diagnosis, who serves as a Medical Director at Sharp and is the principal investigator of the study.