Pa. law mandates information on Down syndrome

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PHILADELPHIA (AP) — Pennsylvania has joined a small but growing number of states requiring that a Down syndrome diagnosis be accompanied by useful, accurate information about the genetic disorder.

The Down Syndrome Prenatal and Postnatal Education Act, effective Oct. 1, mandates that medical practitioners give expectant or new parents "informational publications," to be provided online by the state health department.

The Down syndrome advocates behind such state laws — five in the last two years, including in Delaware and Maryland — promote them as a way to give unbiased information to pregnant women at a momentous, stressful juncture.

"This isn't a partisan law. It's not a pro-choice or pro-life law. It's a pro-information law," Kurt Kondrich, 51, of Upper St. Clair, said of the Pennsylvania bill he helped craft.

No doubt, though, advocates hope the information will discourage women from aborting affected fetuses now that noninvasive genetic testing is making diagnosis easier, earlier, and more accurate.

In recent years, articles in popular media and even scholarly journals have carried such ominous titles as "Is Down syndrome doomed?" and "With new prenatal testing, will babies with Down syndrome slowly disappear?"

Kondrich has blogged about his fears of a "silent eugenic movement" against children like his daughter Chloe, 11.

"As prenatal genetic testing advances," he wrote, "I challenge people to ask the question, 'Who will be next to be identified . . . and eliminated because they don't meet cultural mandates for perfection?' "

Pennsylvania's legislation was introduced in March by Rep. Jim Marshall (R., Beaver Falls), passed with almost no opposition, and was signed by Gov. Corbett — and Chloe — on July 18. Its track was quickened partly because medical groups such as the state chapter of the American College of Obstetricians and Gynecologists (ACOG) were not asked to weigh in.

The law "may be well-intended, but it clearly interferes with the physician-patient relationship, and ACOG opposes (it)," said Owen Montgomery, chair of ob-gyn at Drexel University College of Medicine.

Advocates for other genetic disorders may demand me-too laws, he said. "And what's the penalty for non-enforcement?"

The Pennsylvania Department of Health cannot make sure all practitioners print out or give links to the publications, acknowledged spokesman Wesley Culp. The department is now working to select appropriate publications, which must include "physical, developmental, educational, and psychosocial outcomes" and contacts for support services.

That choice could be tricky because of a question that has divided the Down syndrome community: Can information be considered unbiased if it doesn't mention the abortion option?

The issue came to a head in 2008. Anticipating the debut of new noninvasive genetic tests, experts from major advocacy and medical organizations, including geneticist groups, developed an unprecedented guide called "Understanding the Down Syndrome Diagnosis," available free online at lettercase.org. The booklet was supposed to become the resource to give parents.

But the next year, the two advocacy groups withdrew their backing rather than endorse two paragraphs on pregnancy termination. In 2012, they produced their own, briefer pamphlet, without mention of abortion.

"We have board members with Down syndrome," said David Tolleson, director of the National Down Syndrome Congress. "In their minds, their advocacy organization should not be touting termination as coequal to other options. . . That's like saying your life is not worth living."

Today, such lives can be full and long — the average is 60 years, compared with 28 in the 1980s — thanks to laws protecting people with disabilities, and the end of institutionalization.

Down syndrome, caused by an extra copy of chromosome 21, causes mild to moderate intellectual impairment, physical delays, characteristic facial features, and in half of cases, correctable heart defects.

Most "people with Down syndrome now live at home," says the Global Down Syndrome Foundation. "The overwhelming majority will learn how to read and write. Most are attending public school and some are graduating. More and more are holding down jobs."

Still, prejudice persists.

Foundation cofounder Michelle Sie Whitten, whose 11-year-old daughter has the syndrome, recalled a genetic counselor showing her a video full of dire misinformation — then trying to comfort her by saying she could terminate the pregnancy.

Laws like Pennsylvania's, she said, "are born of frustration in the Down syndrome community."

The actual abortion rate is unknown, data being sketchy. A 2012 U.S. study estimated 67 percent, but many advocates cite 92 percent, from a 1999 international study.

The number of U.S. residents with the condition is also unclear, with estimates ranging from 250,700 to 400,000.

In any case, the picture may be changing.

Seven years ago, major medical groups urged that all women be offered screening and diagnostic tests for the syndrome — not just those over 35, when the risk of chromosomal abnormalities rises.

But conventional screening yields many false alarms, while diagnostic tests, in which a needle is stuck into the womb, carry a tiny risk of miscarriage and can't be done before 10 weeks of pregnancy.

That's why the 2011 introduction of Sequenom's noninvasive test was a watershed. With a sample of the mother's blood at 9 weeks of pregnancy, "MaterniT21" can extract and analyze fetal DNA to predict Down syndrome with up to 99 percent accuracy.

Sequenom, which has done 300,000 tests, now has competition from three other companies.

The right to abortion is a divisive moral issue, but for Down syndrome advocates, it is layered with questions about disability rights, self-determination, diversity, human dignity.

Louisville, Ky., lawyer Mark Leach, whose daughter has Down syndrome, tried to peel the layers in a blog entry titled, "What are we losing if Down syndrome disappears?"

"In this era of multiculturalism, biodiversity, and interconnectedness, the loss of a kind of people seems intuitively to be tragic," he wrote. "A narrowing of the diversity of the human condition does not seem to be something to be aimed for, but something to be regretted."

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Information from: The Philadelphia Inquirer, http://www.inquirer.com

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