Raising Children With Down Syndrome

In the first study of its kind, the grand majority of families with members who have the genetic disorder Down Syndrome reported happiness. From MSNBC.com:

Among 2,044 parents or guardians surveyed, 79 percent reported their outlook on life was more positive because of their child with Down syndrome

This is particularly relevant as a new blood test to determine Down syndrome early in pregnancy is expected to be available within months.

The story opened up with Melissa Reilly, who not only has Down syndrome but is a Special Olympian who brings home gold medals in skiing, cycling and swimming, and also interns for a Massachusetts state senator. This story is worth a read as it not only shows how accomplished people with Down Syndrome can be and the positive effect they have on their families, but also introduces the controversy around prenatal genetic testing for Down.

Thousands of women a year opt to terminate pregnancies when their unborn child has Down syndrome. Some estimates put that number as high as 90 percent, according to Boston’s Children’s Hospital.

But soon, the first non-invasive and inexpensive blood test will allow pregnant women to know if their fetus has Down syndrome in the early weeks of pregnancy. The test, expected to hit market later this fall, detects fetal DNA in a mother’s bloodstream.

Bioethicist Art Caplan says the ease of this test raises the possibility that Down syndrome will slowly disappear from our society.

Skotko, the genetics researcher, also has a 31-year-old sister with Down syndrome. He says she is the inspiration for his practice and research on the condition and that it’s critical for families to receive accurate and unbiased information, and they should know raising a child with Down syndrome can be a fulfilling and rewarding experience.

I am glad that Skotko is getting the word out. Why is there so much fear around people with Down Syndrome?


Doctors Debate Controversial Test for Down’s Syndrome

At least four biotech companies have developed a non-invasive, but accurate test, to detect Down’s syndrome during the first trimester of pregnancy, according to the Washington Post.

In 2007, the American College of Obstetricians and Gynecologists recommended that all women be offered screening tests for Down syndrome, which causes mental retardation and other health problems. The current tests consist of a combination of blood tests and ultrasounds. Depending on the results, the women may then undergo either amniocentesis or chorionic villus sampling (CVS) to confirm or rule out the diagnosis.

But the screening tests often produce imprecise results, and amniocentesis, the most common definitive test, can cause miscarriages and is not usually performed until the second trimester, when the termination of a pregnancy is much more traumatic and difficult to obtain.

The new tests take advantage of techniques that can isolate and analyze tiny bits of genetic information from the fetus that circulate in a woman’s bloodstream, in this case from cells or free-floating snippets of DNA or the related molecule RNA.

At least four companies are developing such tests, including Sequenom of San Diego, which plans to be the first on the market in June. The other companies hope to have their versions on the market within a year.

At a meeting of the Society for Maternal-Fetal Medicine in San Diego last month, the company reported that results from 858 women showed that its test did not miss a single case of Down syndrome and produced only one false alarm, making it much more accurate than the currently available screening tests and on a par with amniocentesis.

Initially, Sequenom plans to offer the test as an alternative to the first-trimester screening blood-and-ultrasound test. By reducing false alarms, the test could help many women obtain a more definitive diagnosis without the risks of amniocentesis or chorionic villus sampling.

The test has raised brows in the disabled community that is urging Congress to enforce a law passed last year requiring doctors to give mothers accurate information about genetic disorders and let them know there are resources to help them raise their babies.

Advocates worry that such tests could increase the number of women getting inaccurate information that makes life for people with Down syndrome and their families sound worse than it really is.

“We have a nation of physicians who are unprepared for explaining a diagnosis of Down syndrome,” said Brian Skotko, a physician at Children’s Hospital in Boston who works with the National Down Syndrome Society. “Many overemphasize the negative consequences or outright urge women to terminate their pregnancies.”

Skotko, whose sister has Down syndrome, predicted such tests would result in fewer babies being born with the condition.

“Every day my sister teaches me lots of life lessons — to laugh when others are mocking me, to keep on trying when obstacles are thrown my way,” he said. “If there were a world with fewer people with Down syndrome, I think the world would miss all these important lessons.”