New Test Better at Finding Birth Defects

Microarray analysis picks up abnormalities

pregnant woman meeting with doctor

A new tool may be better at deciphering early problems in a fetus than traditional tests.

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Most pregnant women have an ultrasound to identify potential birth defects. But advanced age, an abnormal result on a Down’s syndrome screening or an abnormality on the ultrasound itself will typically prompt more testing.

In these cases, a traditional chromosome analysis is performed. However, a recent study finds a newer test called a microarray analysis can pick up even smaller abnormalities, says Jeff Chapa, MD, a prenatal care expert at Cleveland Clinic.

More potential birth defects found

In the study, nearly 4,500 pregnant women were enrolled at Columbia University and broken into several groups based on age, Down’s syndrome screening, ultrasound results and other indications.

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Results showed that in about 6 percent of the women who had an abnormal result on their ultrasound, a microarray analysis found abnormalities that were not seen in the chromosome analysis.

“Those patients now have an opportunity for a diagnosis earlier rather than later,” says Dr. Chapa. “This can help them with planning and preparing for the rest of the pregnancy,” he adds.

A new gold standard?

Dr. Chapa says, for now, there is room for both tests, but he can see a day where microarray may become the gold standard.

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“We’ll probably continue with the chromosome analysis as the standard. But there is certainly a role now for the microarray, particularly in situations where we are not getting an answer from the chromosome analysis, but we still suspect there may be something going on,” he says.

While the microarray provides more information, Dr. Chapa cautions that doctors aren’t yet sure of significance of all this new data.

 “Is the data truly the cause of the underlying problem or just a variant with no clinical significance?” Dr. Chapa asks. “As our experience with this testing grows, along with our knowledge of the human genome, this will become less and less of a problem,” he adds.

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