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New pre-natal Down's syndrome test being developed

Down's syndrome is a genetic disorder that affects thousands of individuals in California and the rest of the United States. Down's syndrome causes lifelong intellectual disabilities, developmental delays and other health problems, according to Mayo Clinic. People with Down's syndrome automatically qualify as being "disabled" for purposes of collecting disability benefits from the Social Security Administration.

Currently, the only diagnostic way to test an unborn child for Down's syndrome is by using a needle to take a sample of fluid from the sac that contains the baby. However, this testing also comes with a slim risk of miscarriage. The only other non-invasive option involves an ultrasound and blood test screening process, but that carries a high rate of false positives.

Now researchers have announced that a new, less invasive test for Down's syndrome is on the horizon. Researchers at the Harris Birthright Research Centre for Fetal Medicine at King's College London in the U.K. announced that they have developed a blood test that can diagnose Down's syndrome with about 99 percent accuracy.

In primary testing for Down's syndrome and other trisomy disorders, the researchers took blood samples for pregnant women at 10 weeks and the results were compared to the combined screening method. They found that the new blood test, which intricately studies traces of the fetal DNA in the mother's blood, was able to detect all cases of Down's syndrome and with only a 0.1 percent false-positive rate.

The study was published June 7 in Ultrasound in Obstetrics & Gynecology. It is expected that a larger study will follow before the test is available to the public.

Of course, it's important to point out that many people with Down's syndrome lead full and happy lives. However, many parents are interested in pre-natal testing for Down's syndrome so that they can adequately prepare for a child with special needs. The hope is that the new test would also put fewer fetuses at risk of miscarriage, which is associated with the more invasive testing.

Source: CBS News, "New Down's syndrome blood test may be less-invasive option," Ryan Jaslow, June 7, 2013

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