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As Down detection gets easier, choices harder

A shift to blood tests could mean fewer affected babies — and more questions about what is ‘normal’

Courtney Kane says her daughter, Julia, has brought great rewards. Kane and her husband have no regrets.

YOON S. BYUN/GLOBE STAFF

Courtney Kane says her daughter, Julia, has brought great rewards. Kane and her husband have no regrets.

SWANSEA — On a stormy Valentine’s Day in 2007, Courtney Kane felt herself detach from her body and float up to the ceiling. She watched as the figure below, 19 weeks pregnant, reclined on a bed in an exam room, talking to a doctor and a genetic counselor.

Her husband, Trafford, was holding her hand. Her mother had come along for support. She felt as if the rest of the world had dropped away and they were alone, like characters frozen in a spotlight on a stage.

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A detailed ultrasound had given the medical team a strong indication that the Kanes’ baby had Down syndrome, and Courtney now found herself agreeing to have a long, thin needle inserted into her abdomen to retrieve amniotic fluid for genetic testing. The invasive test was uncomfortable and scary, and it carried a small risk of miscarriage.

The results wouldn’t be known for a few days, so the family traveled back to their 200-year-old home in Swansea, numb. The roof had started leaking and water was pooling on the dining room table, but they barely noticed.

When the Kanes were later asked to participate in a study that would help in the development of an alternative prenatal test that required ­only a tube of blood, they didn’t hesitate. Courtney wanted to help other women avoid the invasive procedure, called amniocentesis.

Fast-forward to 2013.

In the short span of a year and a half, four companies in the United States have launched prenatal tests that use maternal blood to detect syndromes such as Down, which are caused by abnormal numbers of chromosomes, as early as nine or 10 weeks into pregnancy. Not all the companies have disclosed their sales, but tens of thousands of tests have been sold, and the underlying technology has the potential to reveal more. Last year, researchers demonstrated that a mother’s blood could be used to reconstruct the entire genome of a fetus.

Meanwhile, rather than feel good about their contribution to this medical advance, the Kanes utterly regret the small role they played in helping push the technology forward. If the tests get more accurate and expand in use, as they seem poised to do, Courtney, 34, and Trafford, 32, expect that more families will opt for a seemingly harmless test very early in the pregnancy. Information, after all, is empowering. But information is also powerful in ways families don’t always anticipate; a positive result can push them toward a crossroads, a decision point. The Kanes worry that fewer families will know the joys of Julia.

. . .

The genome era — made possible by the ever-cheaper, ever-faster ability to read the DNA “book of life” — has brought ethical dilemmas along with biomedical insight. The medical community wrestles with questions about how genetic tests should be used and what information should be disclosed to patients.

But in perhaps no other area are the questions raised by the evolving technology as morally fraught as when they involve a 10-week-old fetus, when parents may use the test results to decide whether to terminate or continue a pregnancy.

Today, use of the new prenatal blood tests is limited. Medical groups recommend them only for high-risk pregnancies, including women 35 and older. They currently screen for a small number of chromosomal syndromes. A positive result must be followed up by more invasive tests for a definitive diagnosis. Many, however, anticipate the eventual expansion of the tests — both to a larger swath of pregnant women and to a wider catalog of genetic conditions and disorders.

Vastly increasing the number of women who learn about the genetic traits of their baby early on has the potential to reshape the medical and social experience of pregnancy, in the way it has already altered the lives of families that learn they are having a child with Down syndrome.

Advocates for the Down syndrome community worry that wider prenatal testing will mean more expectant parents receive an alarming test result without sufficient information to make an informed choice about whether to terminate or continue the pregnancy.

“I think Down syndrome is genetics’ canary in a coal mine,” said Dr. Brian Skotko, a physician at Massachusetts General Hospital who co-leads a clinic focused on caring for people with Down.

“There are today 250,000 Americans with Down syndrome, only [about] 50,000 away from being reclassified as a rare disease,” Skotko said. “We are, in the moment, potentially seeing through our society’s choices the elimination of a people.”

Skotko has a younger sister, Kristin, with Down, and he has performed surveys that have helped recalibrate perceptions of the lives of individuals with Down. In studies published in the American Journal of Medical Genetics, he found that 99 percent of people with Down report being happy with their lives, and 79 percent of parents credited having a child with Down with giving them a more positive outlook.

But he also was a reviewer for a brochure that mentions abortion as one of the options expectant parents can consider, and he describes himself as pro-information when it comes to genetic testing.

Women who knew their baby’s diagnosis ahead of time had more positive feelings about their pregnancy and their birth experiences than those who found out when their child was born.

Are the new, noninvasive prenatal tests “something to worry about or something to celebrate? The answer is yes,” said Hank Greely, a bioethicist at Stanford Law School. “It depends on who you are and what you believe.”

He said that a safe test that allows women to get accurate information about their pregnancy — including the challenges they may face — is a benefit. But the concerns of people within the Down syndrome community are real, because a shrinking community of people with Down could lead to less support for research and treatment, and reduce societal acceptance of people with the condition.

“Those are really legitimate concerns for the Down community and I think they should be legitimate concerns for all of us,” Greely said. “Disabilities, disadvantage, heartbreak, tragedy sometimes bring out the best in people. But we still, in general, set up our society to try to avoid them.”

Before the advent of the new technology, only 2 percent of pregnant women opted for the invasive genetic tests. The new tests, however, are far simpler — perhaps one of a handful of blood draws that a pregnant women would get during a routine visit. Women are supposed to receive counseling before agreeing to the test, but more women may opt to take an essentially harmless blood test, perhaps without fully thinking through the types of results they may receive. If the tests do expand to other conditions, that means that an increasing amount of information, which typically came after a baby was born, may be divined ahead of time.

“I think this really challenges couples to answer two essential questions,” Skotko said. “Their own personal questions on when does life begin for them, and what forms of human conditions are considered valuable.”

. . .

It was two days after the amniocentesis when Courtney Kane got the news over the phone: Her first baby had Down syndrome. She fell to the floor sobbing and curled up in a ball. She called her mother, a teacher, who left school early to be there.

That day, the Kanes went back for a meeting with the genetic counselor, who told them they had three options: to continue the pregnancy, terminate it, or put the baby up for adoption. Courtney and Trafford did not know any people with Down syndrome; it wasn’t a risk they had been focused on, since they were both young and healthy.

They asked what other people did in their situation. The counselor told them the vast majority, 90 percent of people, terminated the pregnancies.

“We were pretty overwhelmed with the high statistics,” Courtney said. “We thought, there must be a reason why.”

They left the appointment with two books. One was a parents’ guide to Down syndrome. It described the condition, caused by an extra chromosome, explaining that it causes children to experience delays in physical and mental development of varying severity. The other was a collection of stories from women who had chosen to terminate their pregnancies for a variety of reasons.

The Kanes started the weekend overwhelmed by the options. If they chose to continue the pregnancy, their baby would need open-heart surgery in addition to having Down syndrome.

They felt they didn’t know enough. All the information made it hard to answer the one question they cared most about: Would their child be able to have a good quality of life? Would he or she be happy? They begged close family members for advice. It would have been easier if they had strong religious views and opposed abortion, but the Kanes do not. For one tormented day, they seriously contemplated ending the pregnancy, trying to understand what that would mean.

“We spent a day inside of that feeling,” Trafford recalled.

Courtney had a nightmare that night. Her mother had stayed over and Courtney crawled into bed with her the next morning. Connie Ward wanted the couple to come to their own decision.

“I remember reading, restating facts . . . asking questions with as little judgment,” Ward said. “I knew how Courtney felt; I just know her.”

Almost intuitively, without a big debate or talk that either can remember, Courtney and Trafford realized they had both reached a decision as they milled around the kitchen Sunday morning. It was sunny outside. There was no question. They would have this baby.

. . .

The push for prenatal blood tests is driven by simple reasoning: to reduce the number of invasive procedures that cause fear in the mother and a small risk to the baby while also providing information about genetic conditions to help guide the pregnancy.

Last December, the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine released a committee opinion calling the new prenatal blood tests a technology with “tremendous potential as a screening tool” for abnormal numbers of chromosomes. The tests will allow many women with high-risk pregnancies to forgo the riskier tests, according to Dr. Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts Medical Center.

Several companies are now conducting clinical trials to determine whether their screening tests could be used in the general population of pregnant women. They hope to demonstrate that the tests are more accurate than conventional screening used in women not at high risk. Conventional screening has a false positive rate of about 5 percent and also may indicate there is a low risk of a problem when a fetus does have a chromosomal syndrome.

Bianchi sees a further upside to the new tests, which can provide earlier diagnosis. The benefit, she says, is not just that women could make decisions about whether to continue pregnancies based on information about the fetus, but that the growing area of fetal medicine might have more time to intervene.

“You could conceivably have 30 weeks to treat a condition,” said Bianchi, who last week presented early data at the meeting of the Society for Gynecologic Investigation in Florida showing the effects of an antioxidant drug in mice with a form of Down syndrome. The drug was administered through the pregnant mother’s food and was continued until the offspring were 8 to 10 weeks old. Mice that received the treatment were less hyperactive and displayed more normal exploratory behavior. Bianchi’s hypothesis is that the drug may reduce oxidative stress that interferes with normal brain development.

But Dov Fox, a fellow at Georgetown University Law Center, said that the tests may lead to a subtle societal shift that often gets left out of the debate. Providing the information might create what feels like a turning point for many — compelling a decision to do something or not do something that could gradually shift what is normal.

“It also exerts social pressure on parents to terminate pregnancy for fear of criticism or reproach from people who regard the choice — their child with a disability — as negligent, or irresponsible,” Fox said. “This increasing willingness to prevent the birth of children with impairments or genetic abnormalities may, moreover, bring a tendency to exclude rather than accommodate people whose abilities fail to meet the demands” of the everyday world.

. . .

A test returns results in black and white terms — positive or negative, or a risk expressed as a set of numbers. It can’t convey what a whole life would feel like.

In July 2007, when Julia was born, her mother instantly recognized the physical features of Down; she had been reading about them for months. Julia had slightly upturned eyes. Trafford recalls she had low muscle tone — she was a little bit floppy.

But as Courtney looked down at the baby in her arms, she felt that all the books she’d read had given her only the vaguest hints of how her daughter’s life would unfold. The way she and Trafford would hold their breath through her open-heart surgery. The way they would worry about Julia as they tried to get her to gain an ounce. The way they would get to know their head-strong, social little girl who wiggles her feet when she is excited and clinks her red popsicle with everyone’s cup in a joyous toast after dinner. The way she would have to be painstakingly taught how to jump and walk and practically everything else — and how that struggle would make it all that much sweeter.

Now, the parents have watched as her younger brother, Oliver, 2, seemed to learn faster from Julia — and is now helping to accelerate her development. As he has learned to string words together into sentences, Julia makes more of an effort, too.

The Kanes say they are part of a club that no one would think they want to join, but that they would never want to leave.

There is something else Courtney vividly remembers from the first time she held her daughter.

In some ways, it is an emotion specific to having a child she knew would be slow to speak, might never get married, and might never live independently. But in other ways, it’s the same feeling all parents have.

As she gazed into her daughter’s blue eyes, Courtney heard a voice in her head say, “Please, just love me. I’m not what you expected, but please just love me. . . . I need you guys to be on my team.”

Carolyn Y. Johnson can be reached at cjohnson@globe.com. Follow her on Twitter @carolynyjohnson.
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