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New DNA-based prenatal blood test can identify pregnancy with Down syndrome

September 16, 2017

This industry-sponsored project, awarded to Drs. Canick and Palomaki and Women & Infants Hospital in 2008, enrolled 4,500 women at 27 prenatal diagnostic centers throughout the world. Women & Infants also served as one of the enrollment centers under the direction of maternal-fetal medicine specialist and director of Perinatal Genetics, Barbara O'Brien, MD.

"Screening tests, by their nature, do not diagnose, but rather offer information about the chances that a pregnancy may be affected by a genetic abnormality. For years we have relied on screening tests that have had a fairly significant false positive rate because that was the best screening available," said Dr. O'Brien. "But having access to a DNA-based test that can be done early in pregnancy will give us more information so that we can better guide which patients should consider diagnostic testing."

Women & Infants Hospital has been an international center for prenatal screening research. For more than three decades, Drs. Canick and Palomaki have collaborated with others in developing and improving screening tests for Down syndrome and other fetal abnormalities. In 1988, Drs. Canick and Palomaki were involved in the development of triple marker screening. The team was able to convert its findings into prenatal screening tests now used throughout the world. Dr. Canick's lab in 1998 was the first in the US to offer quad marker screening and in the past decade was the laboratory center for the National Institute of Health (NIH) funded FASTER Trial which compared first and second trimester screening.

It was announced today that one version of this laboratory-developed test, MaterniT21, has been validated through clinical studies and is now available through the Sequenom Center for Molecular Medicine, a CLIA-certified and CAP-accredited laboratory. Harry F. Hixson Jr., PhD, chairman and CEO of Sequenom, Inc., said, "We have been fortunate to partner in the clinical study and are proud to offer the service to assist specialists and high-risk patients in making more informed decisions about their pregnancy."

Source: Women & Infants Hospital