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Breakthrough in prenatal screening for Down syndrome

Published on January 29, 2009 at 5:16 AM · No Comments

Lenetix, Inc. today announced a significant step in the development of an improved first and second trimester non-invasive fetal chromosomal screening test to detect Down syndrome and other genetic fetal conditions.

Lenetix presented preliminary study results at the 29th annual Society for Maternal-Fetal Medicine Conference in San Diego that indicate a potential breakthrough in testing quality and accuracy while preserving the safety of mother and fetus.

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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