This article is about a breakthrough in detecting Down Syndrome. However, it includes the following:
The maternal serum test developed by Lenetix medical director Dr. Stephen A. Brown at the University of Vermont incorporates the use of methylation-sensitive amplification (MSA) of fetal nucleic acid markers. In the preliminary studies, more than ten clinical plasma specimens of various ethnicities provided by clinical partners were tested with clinical partners using the MSA approach developed by Dr. Brown. Data from pilot studies indicate that highly accurate screening for common fetal autosomal (Trisomy 18, 21) and sex chromosomal (47, XXY) chromosome abnormalities is feasible, particularly in the first trimester of pregnancy when MSA features of early pregnancy-derived cells can be leveraged. This approach affords diagnostic confirmation by CVS, an invasive first trimester procedure, or genetic amniocentesis in the early 2nd trimester.
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