A Prenatal Test for Down Syndrome Without the Risk of Miscarriage

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According to scientists, a new method for detecting Down syndrome during pregnancy may eventually be available as a safer, less invasive alternative to amniocentesis, WebMD reported.The experimental method screens for genetic markers of Down syndrome in blood samples from the mother taken between the 11th and 14th weeks of pregnancy.  Early testing of the method showed it had 100 percent accuracy in distinguishing between 14 fetuses with Down syndrome and 26 without.

The method works by screening for extra copies of a fetal chromosome in the mother’s blood.  In Down’s syndrome, the fetus has three copies of chromosome 21, called trisomy-21.  In healthy fetuses, there are only two copies.

Amniocentesis, the standard method for Down syndrome testing, involves taking samples of genetic material from the fetus and comes with a risk of miscarriage.  Other less invasive tests are not as accurate and can only estimate the risk of Down syndrome in the fetus.

The study was published in the journal Nature Medicine.

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