down syndrome

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What You Need To Know About New DNA Down Syndrome Tests

The news recently broke that prenatal testing is entering a new era: DNA tests able to detect Down syndrome in a fetus just by testing the mother’s blood are now hitting the market.

Below you’ll find a nuts-and-bolts Q&A with a leading researcher on such tests: What’s the state of the science? Who should get one? How much are they?

But first, a brief editorial: This is good news for the great many parents-to-be who want the chance to know in advance if a fetus has Down syndrome. As an older mother, I would have been overjoyed to have a near-definitive, non-invasive test. If the women who come after me have that chance, and it looks like they will, I’ll consider it quite a boon of the genomic era.

Much of the coverage has struck me as oddly “balanced.” If you search on nytimes.com, for example, the headline says the new type of test “raises hopes and questions.” Questions? Well, sure, it’s a new technology: Will it live up to its initial promise? But the Times story also cites concerns “that use of such tests early will lead to more abortion of fetuses with minor abnormalities, the wrong sex or an undesired father.” It quotes Dr. Brian Skotko of the Down syndrome program at Children’s Hospital Boston, whose sister has Down syndrome. He “pointed out that these tests could encourage more people to end their pregnancies, causing a decline in the numbers of people with the condition and leading to diminished support for them.”

I remember it as: ‘Do I want to avoid Down syndrome badly enough to risk this whole precious pregnancy?’

We’re all entitled to our points of view. But let’s look at the tests from the perspective of the parents-to-be.

These DNA tests could bring about the end of the heart-wrenching pregnancy decision on whether to get an invasive test like an amniocentesis despite the small risk of miscarriage. (I remember it as: “Do I want to avoid Down syndrome badly enough to risk this whole precious pregnancy?”) Continue reading