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Prenatal Blood Tests Come With High Hopes And Some Questions

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When Ramona Burton became pregnant with her second child this year, the 37-year-old Upper Marlboro, Md. woman knew that her age put her baby at an elevated risk for Down syndrome, even though screening with ultrasound and standard blood tests raised no warning flags.

Burton and her husband didn’t want to risk amniocentesis, the gold standard for prenatal diagnosis, because it carries a small chance of miscarriage. So when her doctor offered an alternative — a new test that requires only a sample of the mother’s blood — they leapt at it. In less than two weeks, they got the news: no Down syndrome. The baby, a boy, is due next month.

Three versions of this test, which can be performed as early as 10 weeks into a pregnancy, have come onto the market since December.

Tens of thousands of women have used them, according to the companies that sell the tests. But they are not subject to regulation by the Food and Drug Administration, and questions have been raised about a technology whose accuracy and role are still being assessed. As a result, no major insurance company has yet agreed to cover the tests, whose list prices range up to $1,900.

New medical technologies often challenge a health-care industry grappling with pressures to control costs. It’s not yet clear whether the new tests will cut costs and miscarriages by reducing invasive prenatal diagnostic procedures such as amniocentesis or inflate costs because they’re used by women who probably would never have opted for amnio because of miscarriage fears. (The established tests are performed about 200,000 times annually in the United States and cost roughly $2,500 in the Washington area.)

More is not better

With the new tests, fragments of fetal DNA extracted from the mother’s blood sample are checked for increased amounts of material from chromosomes 21, 18 and 13, a sign that the fetus carries three instead of the normal two copies of those chromosomes.

In this case, more is not better. Having an extra copy of 21, a condition called trisomy 21, is the main cause of Down syndrome, while having a third copy of 18, a condition called trisomy 18, causes a less common disorder named Edwards syndrome. Trisomy 13 is also known as Patau syndrome. All three conditions are linked to serious developmental and medical problems.

Standard first-trimester screening for these genetic conditions can be performed as early as 11 weeks’ gestation. It consists of a blood test to check levels of pregnancy-associated proteins and hormones in the mother’s blood and an ultrasound to look for extra fluid under the skin at the back of the fetus’s neck. The results are usually available within a week.

Used together, the standard blood tests and ultrasound can detect about 90 percent of Down syndrome cases and an even greater proportion of trisomies 18 and 13. But there’s a false-positive rate of about 5 percent, and only amniocentesis or the much less commonly used chorionic villus sampling, another invasive test that can cause miscarriage, can provide a definitive answer.

The new blood tests that assess fetal DNA rather than maternal blood perform better than standard screening, says Tufts scientist Diana Bianchi, whose research helped lay the groundwork for them. Bianchi sits on the scientific advisory board of Verinata Health, which launched its test, called Verifi, in March. “The problem is they’re more expensive, so they can’t be a primary screen,” she says.

The tests generally are offered only to women whose age, family history or standard screening put their fetus at a higher risk of having a chromosome abnormality — not to all women, as the standard screening tests are.

So far, major insurance companies, citing limited studies about the tests’ accuracy and impact on patient care, consider them to be experimental and do not cover them. (Sequenom, the marketer of the MaterniT 21 Plus test, asserted this month that 15 percent of the U.S. population is covered by plans that will pay for the test, though it did not identify those plans.)

‘Not a clear endorsement’

The American College of Obstetricians and Gynecologists published its first opinion on the tests Nov. 20 and concluded they “should not be part of routine prenatal laboratory assessment.” However, ACOG said, the tests can be offered to patients at increased risk of having a baby with a trisomy, as long as they are counseled beforehand about the tests’ limitations. Previously, the National Society of Genetic Counselors and the International Society for Prenatal Diagnosis reached similar conclusions.

Because research has not yet proved that the new tests are as accurate as the standard invasive tests, all three organizations recommend that women with a positive result undergo amniocentesis or chorionic villus sampling to be sure.

“We clearly take ACOG’s opinion into consideration as we evaluate coverage policy,” says Julie Kessel, senior medical director of Cigna’s coverage policy unit. But, she adds, “it’s not a clear endorsement.”

Cigna typically reviews coverage of technologies annually, unless a “sentinel event,” such as firm new guidelines about their use, suggests the company needs to take another look sooner, Kessel says. The ACOG opinion is not such an event, she says, so the company likely won’t revisit the blood tests until July.

Aetna spokeswoman Tammy Arnold says her company is awaiting the results of more research into the tests’ accuracy and how testing affects women’s decisions about amniocentesis. Once studies of patients prove that the tests add value, Arnold says, “cost savings to the health-care system would be a welcomed bonus.”

Women are asking for the tests right now, however. “I don’t think anybody really anticipated that the consumers would drive this as much as they’re doing,” Bianchi says.

For now at least, the companies that market the new tests appear to be eating much of the cost. For example, the most that women with insurance have to pay out of pocket is $235 for the MaterniT21 Plus test (list price $1,900) and $200 for Verifi (list price $1,200), even if their plan declines to cover the test. Both companies offer self-pay options for women without insurance: The price is $450 to $500 for MaterniT21 Plus and an “introductory price” of $495 for Verifi.

Jeffrey Spencer, Ramona Burton’s OB-GYN at the Anne Arundel Medical Center in Annapolis, Md., says that although questions remain about how best to use the tests, he needs to make his patients aware of them. “It’s so new we’re not sure the best way to do it. I feel I have an ethical obligation to make patients aware of the option.” (Spencer says he is a member of the speakers’ bureau of Sequenom, which markets the MaterniT21 Plus test, and is paid a fee when he speaks at the company’s request.)

Burton is one of several hundred higher-risk patients in his practice who have opted for MaterniT 21 Plus, Spencer says.

Mark Evans, a Manhattan OB-GYN, says his patients want to skip the standard screening tests and go right to the new tests.

“My patients are the average New Yorkers,” he says, “who want their answers yesterday.”

This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News is an editorially independent program of the Henry J. Kaiser Family Foundation, a nonprofit, nonpartisan health policy research and communications organization not affiliated with Kaiser Permanente.

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Comments (7 Responses)

  1. paul moore says:

    Yeah! Another test to determine if you have a “defective” child like mine. How many more wonderful, kind accepting children will be aborted due to this new screening method. Why do we not spend that money on educating parents about the value of all people, not just the “normal” ones. We really haven’t evolved that much as a society have we.

  2. Veronica says:

    How wonderful it would be if a fraction of the money spent to develop these tests had gone to finding a treatment for Down syndrome, the least funded genetic condition in this country.

  3. Nicole LeBlanc says:

    People need to stop testing for Downs Syndrome!! They need to Accept their child they way they are Born!!! Diversity is a Great thing!! If we were all Normal it would be a boring world!!! Stop the abortions of Babies with Downs and other disabilties. We are Not Burdens!!!

  4. Glen S says:

    Nicole, it is not a matter of lack of acceptance. How a family chooses to use information is their business and not yours or mine. More information leads to better preparedness. Better preparedness leads to more ability to use the “system” to the betterment of the child born with Down’s Syndrome or any other disability.

    Again, it boggles the mind how many individuals with disabilities have taken up the mantel of the identity followers we fought so hard against in the 60′s and 70′s.

  5. DJ Ames says:

    If you receive the God-given blessing of having a child with Down syndrome, consider yourself in good hands. Those with Down syndrome are pure in spirit and only enter this world by God’s steady hand. If you should be the mother of one of these innocents, your life will be changed in ways unmeasurable and unexplainable to anyone else but other mothers (and fathers and sisters and brothers) of children with Down syndrome. Don’t bite the hook for early blood tests to rule out. This type of testing interferes with the genius of the Universe, to say the least.

  6. Katie says:

    I read this post a few days ago, but it actually took me a while to formulate a response to it. I have to admit, I was surprised to find this article on disability scoop and even more surprised disability scoop did not at least add a disclaimer to clarify they are not necessarily endorsing prenatal screening, which often does lead to abortion of the fetus when he or she is found to have Down syndrome. I know this is not always the outcome, but about 90% of children conceived with Down syndrome in the United States are aborted.

    Before I go on, let me clarify that I am not for limiting anyone’s access to prenatal screening. I do believe that whatever prenatal screening technology we have available should be accessible to every woman and that woman can then choose what to do with the information. If her choice is to abort her child with Down syndrome, I would say she missed out on a wonderful opportunity, but it is her choice.

    That said, I still have to ask myself, what would happen if instead of pouring all the time, energy, and money into developing these high tech prenatal tests so a woman can be 100% sure she doesn’t have a child with Down syndrome, we put that money to use elsewhere? What if we used it to pay for more housing for people with disabilities? What if we put it into programs which are working to make communities more accessible to people with disabilities? What is we have that money to organizations like Special Olympics and Best Buddies, which work to improve the quality of life of people with disabilities and promote acceptance of people with disabilities by their communities? I just think that might be a better use of those resources.

  7. Glen S says:

    Katie,
    At least your comments showed a measure of tempering. Again, how can anyone advocate for keeping parents in the dark about possible congenital disabilities. Prenatal testing allows the system to be ready to serve before a child is born. Early interventionists can already be assigned so evaluations can be prepared before mother and baby leave the hospital. Parents can be educated or research for themselves what services are available in their state and community, and how to qualify and apply. Civic organizations can be made aware that a family is going to need assistance.

    It is hard enough as parent to be given the news that your wonderful child was born with multiple severe disabilities and medical frailties. It is made worse when you are having to learn about the new realities of caring for a child AND trying to determine how the “system” works. Better to be prepared than not.

    To the point of spending money on services: You mean giving more money to unemployed individuals who claim a disability because they can’t keep their temper in check. But, they can be found twice a week getting horseback riding lessons on the taxpayers’ dimes. Or forcing employers and schools to make accommodations for the same anger management issues. Or more money for ineffective medicaid waiver programs. Throwing money at poorly researched, poorly planned, criminally managed, and ineffective programs is not the answer.

    Yes, it is unfortunate that parents choose to use information for ill rather than good. That is their choice, and the whole of society should not be kept in the dark because others use information for ill.

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