Women & Infants gets $4.5M to study Down syndrome test

PROVIDENCE – Researchers at Women & Infants Hospital have received a $4.5 million industry grant to participate in an international study of a new maternal blood test for Down syndrome believed to be more effective than existing options.
The study, sponsored by the molecular diagnostics company Sequenom, will involve as many as 10,000 women at 30 prenatal diagnostic sites in North America, South America and Europe over the next 16 months, the hospital said.
Researchers will study a new technology from Sequenom that looks at ribonucleic acid (RNA) from the fetus that is found in the mother’s blood. The test examines the ratio of specific sequences from the baby’s 21st chromosome to determine if the fetus has two copies (unaffected) or three copies (Down syndrome).
The screening tests that are used now rely on surrogate biochemical or ultrasound markers, and typically identify 80 to 85 percent of cases. About 5 percent of women tested are referred for amniocentesis or chorionic villus sampling (CVS) – invasive, expensive procedures with some risk of miscarriage – to identify the specific genetic abnormality that their baby has.
“We want to improve those numbers for women,” said Jacob Canick, director of the Division of Medical Screening and Special Testing in Women & Infants’ Department of Pathology.
Canick said he expects the share of Down syndrome pregnancies detected by the new test will be higher than with any other screening test, and the number of amniocentesis and CVS procedures “will decrease markedly.”
“This could lead to safer diagnosis of Down syndrome and eventually other serious chromosomal abnormalities,” he said.
Women & Infants has been a pioneer in Down syndrome screening research for decades. In 1989, Canick and Glenn Palomaki, associate division director, were part of a study of secretory products of the human fetus and placenta as possible birth defect markers that led to the creation of new prenatal screening tests.
Canick was also instrumental in the development and refinement of the AFP PLUS Quad Test, an enhanced prenatal test screening for Down syndrome, trisomy 18 and neural tube defects.
Canick and Palomaki will serve as co-principal investigators of the new study.
Down syndrome, or trisomy 21, is a genetic defect leading to physical and mental delays that affects about 1 in 700 babies born each year in the United States. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered a screening for Down syndrome using several available tests.
Women & Infants Hospital, a member of the Care New England health system, is the primary teaching affiliate of the Warren Alpert Medical School of Brown University for obstetrics, gynecology and newborn pediatrics and the seventh-largest obstetrical service in the country, with more than 9,000 deliveries per year. For information, go to www.womenandinfants.org.
Sequenom develops and sells genetic-analysis products for biomedical research, livestock and agricultural applications and molecular medicine, as well as for various diagnostic markets, including noninvasive prenatal testing, oncology and infectious diseases. For more information, go to www.sequenom.com.