Blood Test Detects Down Syndrome During Pregnancy

THURSDAY, Feb. 23 (HealthDay News) — A second company reports
that it has developed a prenatal blood test to detect Down syndrome,
potentially providing yet another option for pregnant women who want to
know whether their unborn child has the condition.

Last fall, Sequenom Inc. announced that it was making a prenatal Down
syndrome blood test, available in 20 cities in the United States. It
marked the first time that pregnant women could undergo a Down syndrome
test without having to go through amniocentesis or chorionic villus
sampling, which are invasive and pose a small risk of miscarriage.

Now, two studies published online Feb. 21 and in the April print issue
of the American Journal of Obstetrics and Gynecology suggest that
another blood test, this one developed by Aria Diagnostics, can detect
Down syndrome and a genetic disorder known as Edwards syndrome, which can
cause severe birth defects and is often fatal. In both studies, testing
was conducted before 20 weeks gestation.

One of the studies, written by Aria Diagnostics researchers, correctly
detected 44 cases of the two disorders out of 167 prenatal blood samples.
The other study, by researchers from University of London and University
College London, correctly detected all Down syndrome cases and 98 percent
of Edwards syndrome cases.

The test “would be useful as a secondary test contingent upon the
results of a more universally applicable primary method of screening,”
senior study author Dr. Kypros H. Nicolaides, of the University of London,
said in a journal news release. “The extent to which it could be applied
as a universal screening tool depends on whether the cost becomes
comparable to that of current methods of sonographic and biochemical
testing.”

Dr. Brian Skotko, a physician with the Down Syndrome Program at
Children’s Hospital Boston, said the test’s accuracy is “pretty good,”
although the studies didn’t test as many samples as Sequenom did for its
test.

Several other companies are developing prenatal tests for Down
syndrome, said Skotko, who predicted that competition in the prenatal
blood test market would lead to lower prices. Sequenom has said that its
test won’t cost mothers more than $235 in out-of-pocket costs.

The growth of these kinds of tests raises major questions, Skotko said:
Will the tests become routine? If so, “will babies with Down syndrome
slowly start to disappear?”

Some pregnant mothers choose to abort their unborn children after they
are diagnosed with Down syndrome. Statistics suggest that their numbers
have risen in recent decades, Skotko said.

More information

For more on Down Syndrome, go to U.S. National Library of Medicine.

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