Breakthrough in prenatal screening for Down syndrome

Jan 29 2009

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.

"The technique described by Dr. Brown and his team at Lenetix will create a revolution in prenatal diagnosis," said study investigator Allan Fisher, M.D., FACOG, FACMG. "This testing will ultimately decrease the number of amniocenteses, and thus reduce the number of miscarriages caused by amniocenteses. It will also help us identify patients who will need an amniocentesis or CVS where we may have missed them before. A better test that produces fewer false positives and negatives drives better patient care, and that's exciting for the future."

"Our preliminary results are extraordinarily encouraging, and complement nicely the work of other investigators whose efforts have focused heretofore in the 2nd trimester," said Lenetix president and CEO Leonard H. Kellner. "Such breakthroughs in improvements of current maternal serum screening for fetal aneuploidy, including fetal Down syndrome, will lead to better quality of screening and most certainly will result in less unnecessary, invasive diagnostic testing."