Breakthrough: New fetal DNA tests could spot Down syndrome in unborn babies

Breakthrough: New fetal DNA tests could spot Down syndrome in unborn babies

Experts warned that the test isn't perfect, and could lead to false positives that could result in abortions.

A new blood test to screen fetuses for Down syndrome has sown significant improvements over current prenatal screening tests — although researchers warned that it isn’t a be-all, end-all solution.

The Roche blood test worked much better than standard prenatal tests in younger, low-risk women, which could eventually result in more widespread use of the test, according to the study, which was published in the New England Journal of Medicine, as reported by Reuters.

Experts warned that positive tests will still need to be confirmed by standard invasive diagnostic testing, such as amniocentesis, especially if the finding would result in a decision to abort the fetus.

Dr. Mary Norton of the University of California, San Francisco, called it a “great test” for detecting Down syndrome, but it isn’t perfect and can’t replace more thorough diagnostic tests.

Studies that have been conducted in the past have shown that fetal DNA tests have been very accurate in detecting Down syndrome and other abnormalities for high-risk, older women. The test measures DNA fragments from the placenta.

As part of the study, Norton and her colleagues tested about 16,000 women with an average age of 30, and compared the Roche’s Harmony test to standard screening procedures for Down syndrome. The study found that the Roche tests identified all 38 cases of Down syndrome, versus just 30 detected through standard screening. That caused the false positive rate to dive from 5.3 percent to a minuscule 0.06 percent of the study population.

It is the nine false positive results that worry experts, however, as a positive could result in an abortion that would ultimately have proven to be unnecessary.

Also, the DNA test didn’t return a result for 500 women because there wasn’t enough fetal DNA in the blood of the pregnant woman.

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