Research highlight

Minimally invasive diagnosis of Down syndrome

Nature Medicine

March 7, 2011

A method to diagnose Down syndrome prenatally from the mother’s blood, thereby minimizing the risks associated with amniocentesis and other methods in clinical use, is presented in an article published online this week in Nature Medicine.

In Down syndrome, there are three copies of chromosome 21, called trisomy-21, instead of the normal two. Taking advantage of differences in the DNA methylation patterns — which are important to control gene expression — between mother and fetus, Philippos Patsalis and his colleagues developed a new method to detect extra copies of a fetal chromosome in maternal blood. The application of this approach allowed the authors to correctly diagnose 14 trisomy-21 cases and 26 normal fetuses, highlighting its potential clinical utility.

doi: 10.1038/nm.2312

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