New study to determine risk of Down syndrome

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Monday November 4, 2013

New study to determine risk of Down syndrome

A team of clinical researchers led by CHU de Québec and Université Laval has received CAN$10.5 million from Génome Québec, Genome Canada, CIHR, Genome Alberta and other partners to recruit 5,600 pregnant women in Canada to study the potential of using DNA sequencing alone or in a contingent model with first trimester serum markers as a non-invasive method for detecting birth defects. The four marker first trimester serum quadruple screen,1T-Quad (PAPP-A, Free beta hCG, AFP and PIGF) provided by PerkinElmer will be used by researchers to validate its use in a contingent model where women identified by the 1T-Quad screen as having an increased risk of fetal aneuploidy undergo analysis of cell-free circulating fetal DNA from a standard blood draw to better estimate their risk of Down syndrome or other trisomy.


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