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Maternal Blood Test Might Spot Birth Defects More Safely
Date:11/10/2011

By Alan Mozes
HealthDay Reporter

WEDNESDAY, Nov. 9 (HealthDay News) -- In what a team of scientists says is a first, the researchers appear to have successfully screened for a rare form of fetal abnormality by means of a completely noninvasive blood test.

By performing a DNA analysis on a blood sample from a prospective mother, the team was able to accurately identify a specific chromosomal irregularity called "fetal microdeletion syndrome" in the unborn child, reported investigators at the Magee-Womens Research Institute (MWRI) at the University of Pittsburgh Medical Center.

In so doing, the researchers indicated it may one day be possible to avoid the use of much more invasive -- and thereby riskier -- standard diagnostic techniques, such as amniocentesis.

"If a fetal anomaly is suspected, mothers are usually offered an invasive screening procedure," said David Peters, head of the MWRI team and an associate professor in the department of obstetrics, gynecology and reproductive sciences.

"But there is a pretty significant, if small, level of risk to the health of the fetus associated with those tests. So there's been a strong push to try and reduce that risk," he noted.

"So I think the most compelling point," said Peters, "is that we have been able to illustrate a proof of concept. We have shown that you can identify these sorts of abnormalities without having to collect a physical sample from the baby or the placenta."

Peters and his colleagues discussed their findings in a letter published in the Nov. 10 issue of the New England Journal of Medicine.

Although this may be the first such test for this particular type of defect, maternal blood tests are also being developed for other fetal anomalies such as Down syndrome, as reported by HealthDay earlier this year. That study, conducted by Greek researchers, was published in the March 6 online edition of Nature M
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