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What You Need to Know About the Hidden Benefits (and Costs) of New Prenatal Tests

What You Need to Know About the Hidden Benefits (and Costs) of New Prenatal Tests


Jul 6 2012
Significant scientific leaps offer more information—and decisions—to expecting mothers.

At first blush, the news that scientists can diagnose thousands of genetic disorders in an unborn human baby looks incredible.

Using a blood sample from the mother and saliva from the father, scientists at the University of Washington mapped out the entire genome of a child while he was in the womb. The discovery, which was published June 6 in Science Translational Medicine, makes it possible to spot disorders from sickle cell disease to cystic fibrosis to Down syndrome in the second trimester of pregnancy.

Best of all, at least for those of us who shiver at the thought of an amniocentesis, is that it's noninvasive.

About 10 percent of the free-floating DNA in a mother's blood belongs to her baby, and by comparing her blood with her own and the father's DNA, scientists can pinpoint which DNA belongs to the baby. From there, they can sequence the child's entire DNA code.

Or at least, they can get pretty close. Their accuracy rate was about 98 percent in the infant boy they tested.

And I find myself wishing this test had been around when I was having my kids. How great would it be to know for sure that your baby is okay? You could breathe more easily, knowing that your infant would be born whole and healthy.

And if he's not, well, then at least you know. You can be emotionally prepared for his birth. You could choose a C-section if that was warranted, or line up services for him, or join a support group.

Or abort him.

That's the rub, said Gene Rudd, president of the Christian Medical and Dental Associations.

It's hard to imagine this test wouldn't be the instigation of selective abortions, since many women with prenatal diagnoses of Down syndrome currently abort, he said.
"It's search and destroy that we do that now with Downs," he said. "And to what benefit do we do that? If we look at the statistics or surveys that come from families that have raised a Downs individual, 97 percent said it was rewarding."

It's a life worth living, and many see that, says Amy Julia Becker, who has written extensively about her daughter with Down syndrome. Heart conditions and respiratory troubles often suffered by those with Down syndrome can be treated, life expectancy has risen from 25 to 60, and by all accounts, raising a son or daughter with Down syndrome can be a wonderful gift. The numbers are tricky, but Becker says that about 70 percent of babies prenatally diagnosed with Down syndrome are aborted.

Becker even declined extensive prenatal testing in subsequent pregnancies despite an elevated risk of the syndrome, saying she would welcome another child with Down syndrome.

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