Tuesday, April 7, 2015

A More Accurate Way for Detecting Down Syndrome

     Dr. Mary Norton, professor of clinical obstetrics and gynecology at the University of California-San Francisco, led the study revealing how blood tests are a more accurate way to detect two rarer chromosomal abnormalities - Edwards syndrome and Patau syndrome - than conventional techniques. According to Dr. Norton and colleagues, the cfDNA test has proved highly accurate in detecting Down syndrome in high-risk pregnant women, but its effectiveness among pregnant women at lower risk is unclear.
     This study involved 18,955 pregnant women between the ages of 30-35. Between the tenth and fourteenth week the women received both the first trimester combined test (conventional method) and the cfDNA test. Among the women, 38 cases of Down Syndrome were found, and the cfDNA test correctly identified all of them. The first trimester combined test only identified 3o cases. Researches also found that the cfDNA tested showed significantly fewer false-positive results than the first trimester combined test. The team also found the cfDNA test was more accurate than the standard test for identifying Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). It identified nine out of ten cases of Edwards syndrome with 1 false positive, while standard screening identified eight cases with 49 false-positives. For Patau syndrome, 1 false-positive was given and there were 28 for standard screening. 
     This type of new screening using the cfDNA test is incredible and should become the regular screening process for every pregnant woman since it is more accurate. With this advancement, hopefully we will have better control and probability outcomes related to Down syndrome. 

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