Posts Tagged ‘ Down’s syndrome ’

New Prenatal Genetic Test Less Invasive, But More Expensive

Thursday, November 29th, 2012

A relatively new type of blood test that can detect genetic diseases including Down syndrome in pregnant women is making news because it is so much less invasive than amniocentesis, a procedure that carries a small risk of miscarriage, and can be conducted at 10 weeks gestational age. But the new test–three are currently on the market–is expensive, costing nearly $2,000, and is not yet regulated by the Food and Drug Administration. More from The Washington Post:

“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.)

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.”

Image: Pregnant woman talking to doctor, via Shutterstock

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Student with Down Syndrome Fights to Stay in School Sports

Friday, April 20th, 2012

A high-school junior with Down syndrome, who has played on his school’s basketball and football teams, may have to sit on the sidelines for his senior year because he has turned 19 and now violates the maximum age allowed by the school district.

Eric Dompierre attends Ishpeming High School in Michigan, where he has experienced some thrilling moments in sports, including scoring a 3-point shot in basketball and kicking a field goal in football. His parents have always been thrilled and grateful for his acceptance and level of participation, and they are fighting to allow him to play during his senior year.  From CNN.com:

According to the constitution of the Michigan High School Athletic League, students who turn 19 before September 1 are not allowed to compete in sports. The rule is intended to prevent the possibility of injury or competitive advantage from an older more developed athlete playing against younger students.

For the past two years Eric’s parents, with the support of the Ishpeming High School District have tried to get the rule changed so Eric can play during his senior year.

But a committee with the Michigan High School Athletic Association has refused two proposals which would allow kids like Eric to participate.

James Derocher is the president of that committee says “our members have to change the constitution and at this point in time they’ve told us ‘no.’ ”

Derocher says one of the concerns is that if they let Eric play, other 19-year-olds may come along in the future and claim a disability for a competitive advantage.

Image: Football, via Shutterstock.

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Oregon Couples Wins ‘Wrongful Birth’ Lawsuit

Tuesday, March 13th, 2012

A Portland, Oregon couple was awarded nearly $3 million in damages last week after they sued their health care providers for failing to diagnose their daughter with Down syndrome in utero.  Ariel and Deborah Levy sued for “wrongful birth” because they said had they known  the diagnosis, they would have opted to have an abortion.

The couple underwent a number of screening tests for Down’s syndrome, The Oregonian newspaper reports, including ultrasound screenings and bloodwork–which showed an elevated risk of the fetus having the disorder–and a procedure called chorionic villus sampling, or CVS–which showed that the fetus was did not in fact have Down’s.  The Levy’s lawsuit alleged the lab that conducted the CVS mistakenly analyzed Deborah Levy’s tissue, rather than the fetus’.

The Levys learned within a week of their daughter Kalanit’s birth that she did in fact have Down syndrome.  The couple, who has two older, healthy sons, sued for the estimated $3 million additional lifetime costs they will incur to care for Kalanit.  A jury, voting 12-0 after only 6 hours of deliberation, awarded the family nearly the entire amount.

The Oregonian reports on the broader issue of so-called “wrongful birth” lawsuits:

Experts say so few parents choose to file wrongful birth suits because it forces them to take an awkward position: They must be willing to say on the record that they would have aborted the pregnancy, and that they feel a burden — albeit financial — of raising the child.

The Levys’ attorney, David K. Miller, said his clients deeply love their daughter but worried about being portrayed as heartless. Miller said they sued because they worried about providing all that their daughter would need over her lifetime. Experts testified that she will continue to need speech and physical therapy and face a concerning list of possible medical problems over her lifetime. Professionals have told the Levys that she will likely never be able to live independently, or earn a living.

According to several studies, 89 percent or more of expectant mothers who learned their children would have Down syndrome chose to terminate the pregnancies.

Image: Gavel, via Shutterstock.

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