New prenatal tests open a minefield for expectant parents

Geneticists are beginning to track the influence of prenatal testing on the Down syndrome population. 

When faced with the fact that their child has a disability, many parents first want to know: What will my child’s quality of life be?

For people with Down syndrome, there have been big advances in care. Physicians are able to fix common heart defects soon after birth. There are also now medicines available that can treat other complications, like thyroid problems.

They’re living much longer than they used to–a baby born with Down syndrome today will live, on average, to about age 60. In 1950, the life expectancy was five years old. In fact, people with Down syndrome are living so long that Alzheimer’s disease is becoming a problem for the population.

“Down syndrome today is dramatically different than Down syndrome yesterday,” said Brian Skotko, a medical geneticist from Massachusetts General Hospital, whose sister has Down syndrome. “Not because the genetics have changed but because we as a society have changed.”

Skotko feels society is more inclusive, and that there are more opportunities for people with Down syndrome today.

Skotko’s been researching the population. He and some colleagues recently stitched together the numbers from several data sets and came up with this: about 200,000 people live in the U.S. now with Down syndrome.

That number has changed over time. But it’s not yet clear whether new genetic tests are having an impact on the population.

The tests are just too new, Skotko said. The simple blood test that detects Down syndrome became available in 2011.

“When prenatal testing came about, many couples learned about Down syndrome prenatally, and some of those couples choose to terminate their pregnancies. So the rate at which the numbers of people with Down syndrome has grown has slowed because of these increases in elective terminations,” Skotko said.

Among couples that have opted for prenatal testing and received a definite positive diagnosis of Down syndrome, Skotko says studies find that 74 percent choose to terminate.

Many other parents opt not to have prenatal testing. Others who learn their child will have the condition choose to carry the baby to term anyway.

Overall, the impact of abortion is about a 30 percent reduction in the number of babies born with Down syndrome, according to Skotko. That is, there are 30 percent fewer people with Down syndrome than there might have been without elective terminations.

The bottom line is we will have to wait and see about the impact of genetic tests on the number of babies born with Down syndrome.

In the meantime, some advocacy groups are making the case that Down syndrome shouldn’t be a reason to terminate a pregnancy.

Edward Myette, who has Down syndrome, has a large, extended family that is committed to being there for him.

The Myette family lives in Cranston, Rhode Island. Edward is 46. He works as a receptionist at a nonprofit agency that helps people like him. He’s a huge Red Sox fan. His mother Brenda Myette did not have access to prenatal testing when she was pregnant with Edward.

She says she wouldn’t have wanted the test.

“No,” said Myette. “I would prefer as each child is born you have a surprise.”

Edward Myette had an opinion, too.

The Pulse asked: “If a mother were to find out the child she was carrying had Down syndrome, and she might decide not to have that child, what do you think about that?”

“I think I will love her,” Edward Myette said.

“You would love the mother?”

“Yes, I would love the mother,” he said.