Women & Infants Tests New DNA Screen For Down Syndrome

Thursday, July 25, 2013

GoLocalProv Health Team

 

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A recently available DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women is moving a step closer to use in the general pregnancy population. Researchers at Women & Infants announced yesterday the receipt of a substantial industry grant from Natera, Inc. (San Carlos, CA), to determine the level of information and education needed to offer this test to all pregnant women, instead of just those considered to be at risk.

"This study will give our local women an opportunity to obtain a very sensitive and specific DNA-based prenatal screening test for Down syndrome and other common chromosomal abnormalities," said Barbara M. O'Brien, MD, Co-Director of the Prenatal Diagnosis Center. "They will be helping the medical community determine how best to implement this new DNA based screening test in the general low risk community."  

Rhode Island's research team

The research will be led by Glenn Palomaki, PhD, and Geralyn Messerlian, PhD, of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine and O’Brien from the Prenatal Diagnosis Center. The test is being called DNAFirst to indicate that it is a DNA-based method offered as a first line screening test in the late first trimester. DNAFirst testing is primarily based on the Natera ‘Panorama’ offering.

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“This is not a study of the test itself. We already know that DNA-based screening is highly effective. Rather, we need to look at its implementation in the general population to determine how best to educate professionals and patients,” said Dr. Palomaki. 

Seeking women's satisfaction with screening

The proposed study is aimed at determining the knowledge and satisfaction of women who choose the DNAFirst screening test as part of routine prenatal care. Approximately 3,500 women in Rhode Island are expected to have DNAFirst screening. A subset of 100 women with specific clinical and demographic characteristics will be contacted after testing. These study participants will be asked to complete a 15 minute telephone survey about their experience, and all information will remain anonymous.

“Natera is pleased to have been selected by Women & Infants to study the utility of our test in the general pregnancy population,” said Matt Rabinowitz, CEO of Natera, Inc. “Women & Infants is a pioneer in the clinical study of DNA-based screening technologies, and we look forward to advancing the standard of prenatal care.”

Women & Infants Hospital has been an international center for prenatal screening research. For more than three decades, under the leadership of the late Jacob Canick, PhD, the faculty in the Division of Medical Screening and Special Testing has led research to develop and improve screening tests for Down syndrome and other fetal abnormalities. In 2011, Dr. Palomaki and colleagues published the first external validation study of next generation sequencing of circulating cell free DNA in maternal plasma to identify common chromosome abnormalities.  This work forms the basis of this new project.

For information about this study, please contact Women & Infants’ Division of Medical Screening and Special Testing at (401) 453-7650 or visit womenandinfants.org.

 

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