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Fresh Hopes and Concerns As Fetal DNA Tests Advance
"Some of these disorders are quite burdensome. They require lifelong nursing care. In some cases these children never walk, never talk, never feed themselves," Beaudet said. "It can have a major impact on the family. People say, 'I wish you had given me the opportunity to know ahead of time. It's really destroyed our lives.' That's why women want to know."
While some couples may choose to terminate a pregnancy when they get a bad result, others may decide to have the baby, and knowing the information helps them and their doctors get ready to care for the child.
"There are things we want to detect during the pregnancy so we can anticipate the medical problems once the baby is born," said Lisa G. Shaffer, Signature's president and chief executive. "That way, once they are born, they already have a diagnosis and can get the care they need as soon as possible. That's the biggest advantage."
So far most couples requesting the tests have already had a child with a genetic abnormality, have a family history of a genetic syndrome or are trying to clarify worrisome results from standard screening such as an ultrasound or conventional genetic analysis.
"Patients and obstetricians are aware that this is available and are demanding it," said David Ledbetter, a professor of human genetics at Emory.
But some couples seek the testing because they want as much information as possible.
"The concern could be because of advanced maternal age," Shaffer said. "They might go into a doctor to have amniocentesis and say, 'Is there anything I can do to rule out any chromosomal abnormalities?' And the doctor says, 'Yeah, there's this other test.' "
Roxanna Rickel and her husband decided to get the test at Baylor last spring to minimize the possibility that their baby would be born with problems.
"My husband's reaction was, 'Why not?' " said Rickel, who had unexpectedly gotten pregnant at age 47. Their test came back clear. "It's reassuring. You know you're on a path that looks like everything is good."
While uneasy that Baylor and Signature may be creating misconceptions about how many genetic conditions they can definitively rule out, Ledbetter said the results can help guide couples. "We can tell the family quite a lot," he said.
Antiabortion activists, however, fear that the tests will lead to more abortions.
"The question is, what is the information used for?" said David Prentice of the Family Research Council. "If it's for informing the parents so they can be prepared for what might come, that's great. But if it's being used for eugenics purposes -- for abortion -- we would be against it."