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New DNA Test Detects Down Syndrome

Courtesy Photo:
Courtesy Photo:

Pregnant women in San Diego and in 20 other U.S. cities can now use a blood DNA test called MaterniT21 to find out if their unborn babies have Down syndrome.

The San Diego based company Sequenom developed the non-invasive prenatal test that detects the genetic anomaly that is the most often linked to Down syndrome.

The test can be done as early as 10 weeks gestation.

Currently, the standard and most accurate way to detect fetal abnormalities is through amniocentesis—an invasive and somewhat risky procedure that punctures the amniotic sac inside the womb.

But, Mathias Ehrich, M.D., PhD., director of research and development at Squenom said their blood test is not meant to replace amniocentesis.

Instead, he said the test could provide more information that could help prevent unnecessary invasive procedures.

“The tests result from the MaterniT21 test is really to be used as an additional piece of information. The decision for an invasive procedure will still be made by the doctor and patient.”

Data from international clinical trials show MaterniT 21 testing is about as accurate as an amniocentesis for detection of Down syndrome.

“Overall, out of more than 1,600 MaterniT21 tests there were only three results not accurate,” said Ehrich.

Large-scale study results were published in October’s peer-reviewed journal Genetics in Medicine.

Sequenom has had to redeem itself over the last few years following a scandal about the exaggeration of clinical findings during the experimental testing phase.

New management and new clinical trials in the U.S and internationally seems to have paid off both for the company and perhaps for the 750,000 women in the U.S. at high-risk for having a baby with Down syndrome.