Researchers Develop New Technique To More Quickly Detect Down Syndrome In Fetuses

August 22, 2007 – 10:36 pm | posted in Pregnancy

A group of physicians from Singapore and the United Kingdom recently developed a new test that can detect within two hours whether a fetus has Down syndrome, Singapore’s Business Times reports. The new FlashFISH test is a modified version of the existing Standard FISH test, which provides results in 24 to 48 hours. Another procedure, called karyotyping, delivers results between eight and 21 days, according to the Business Times (Khin, Business Times, 8/17).

Both FlashFISH and Standard FISH involve inserting a needle through the pregnant woman’s abdominal wall to draw amniotic fluid from the womb, Singapore’s Straits Times reports. FlashFISH requires two milliliters of fluid to be drawn, compared with five milliliters in standard tests. Doctors then examine fetal cells in the fluid by maneuvering a molecular probe directly into the cells’ nucleus, according to Mahesh Choolani — the project’s lead researcher and assistant professor at the National University of Singapore’s Department of Obstetrics and Gynecology. The probe is a tiny portion of DNA that can attach to a matching sequence in the fetal cell and identify whether it is abnormal, the Straits Times reports.

Choolani said the test has proved to be 99% accurate in detecting Down syndrome. Researchers said the new technique carries the same risk of miscarriage — about one in 100 — as the traditional tests because it involves inserting a needle into the womb. FlashFISH, which has been patented by Singapore-based INEX Innovations Exchange, is expected to be available at Singapore’s National University Hospital by the end of the year, the Straits Times reports.

Choolani said the test particularly will be useful for women who become pregnant after age 35 because they are more at risk for having a child with Down syndrome (Young, Straits Times, 8/17). “Waiting for test results can cause a lot of anxiety in couples,” Choolani said, adding, “[W]e decided to develop an alternative technique that requires a shorter waiting time” (Chuah, Today/ChannelNewsAsia, 8/17).

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