Blood test detects Down syndrome during pregnancy

February 23, 2012
Blood test detects down syndrome during pregnancy
Second company develops noninvasive screen for condition.

(HealthDay) -- 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 , 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 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 suggest that another blood test, this one developed by Aria Diagnostics, can detect Down syndrome and a known as , 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 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.

Explore further: Study shows that new DNA test to identify Down syndrome in pregnancy is ready for clinical use

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


Related Stories

Study shows that new DNA test to identify Down syndrome in pregnancy is ready for clinical use

October 17, 2011
A new DNA-based prenatal blood test that can strikingly reduce the number of risky diagnostic procedures needed to identify a pregnancy with Down syndrome is ready to be introduced into clinical practice. The test can be ...

Noninvasive method accurately and efficiently detects risk of Down syndrome

February 21, 2012
Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities ...

Recommended for you

Population health impact of infants born small for gestational age in low- and middle-income countries

August 18, 2017
In low-and middle-income countries, it is common for babies to be born of low birth weight, due to either inadequate growth in utero (fetal growth restriction) and/or preterm birth, (birth before 37 weeks gestation). Maternal ...

Hormone from fat tissue can give protection against polycystic ovary syndrome

August 10, 2017
Obesity and reduced insulin sensitivity are common in polycystic ovary syndrome, PCOS. New research based on animal studies, and to be published in the journal PNAS, reveals that the hormone adiponectin can protect against ...

Study in mice may reveal insights into causes of miscarriages for some women

August 9, 2017
Researchers at St. Michael's Hospital have identified how natural killer cells in the mouse placenta can cause a fetus to fail to grow in the womb or cause miscarriages.

Insomnia, sleep apnea nearly double the risk of preterm delivery before 34 weeks

August 9, 2017
Pregnant women who are diagnosed with sleep disorders such as sleep apnea and insomnia appear to be at risk of delivering their babies before reaching full term, according to an analysis of California births by researchers ...

Elective freezing of IVF embryos linked to higher pregnancy rates in some cases

August 1, 2017
A delay in transferring embryos to the mother improves the success of in vitro fertilization in certain cases, according to a study by scientists at the Stanford University School of Medicine, Celmatix Inc. and several other ...

Negative birth outcomes linked to air pollution exposure early in pregnancy, study finds

July 27, 2017
Exposure to air pollution early in a pregnancy could increase risk for preterm birth and low birth weight, according to a study led by researchers at NYU School of Medicine, and published on July 27 in Environmental Health ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.