Stories about: testing for Down syndrome

Early prenatal test continues to raise ethical questions and draw media attention


CBS This Morning recently took a look at a new test that will detect birth abnormalities at an earlier stage in a woman’s pregnancy. The new test, called the MaterniT21, can be administered at just 10 weeks and is safer and more accurate than current tests of a similar nature.

Detecting birth abnormalities helps families and health care workers prepare for the child and figure out the best ways to treat and support him once born, but there are also concerns about how such testing could affect birth rates of children with identifiable medical conditions.

Brian Skotko, MD, MPP, a clinical fellow in genetics at Children’s Hospital Boston’s Down Syndrome Program, was interviewed in the CBS piece and has been following the MaterniT21 story since it first surfaced. Also featured in the story is an adorable young patient of Skotko’s named Grace McLaughlin, as well as her mother Melanie, who discusses how having Grace has changed her life.

Both Skotko and the McLaughlins were also featured in a recent article on prenatal testing in TIME magazine, which explores what these types of tests could mean for future generations.

Click here for the option to read the full article.

To read more on Skotko’s take on MaterniT21 visit Thriving’s first blog on the subject from January 2011.

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Let’s get real about Down syndrome

by Brian Skotko, physician in Children’s Hospital Boston Down Syndrome Program

Brian Skotko, MD, MPP

In mere months, pregnant American women might be able to learn if their fetuses have Down syndrome with a simple blood test. The test will be perfectly safe, eliminating the small, but real, chance of miscarriage that comes with our current diagnostic options. If these tests do become a routine part of obstetric care, thousands of expectant parents will be receiving a phone call from their healthcare provider each year with this message: your fetus has Down syndrome.

That will be a panicked moment, according to women studied in previous research. But, what should healthcare professionals say about Down syndrome? What does it really mean to have Down syndrome? Six years ago, Sue Levine, Dr. Rick Goldstein, and I set out to find the answer to that question. Rather than let Rahm Emmanuel or GQ Magazine have the final word on what life is like with Down syndrome, we spoke to the people who truly understand.

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New guidelines for physicians: How to give a diagnosis of Down syndrome

stockphotopro_731969kha_pregnant_elly_jp(2)by Brian Skotko, MD, MPP

Every mother and father who has a child with Down syndrome remembers vividly when they first learned of the diagnosis. One mother once wrote me that she was shopping in her favorite grocery story, selecting a can of garbanzo beans, when her cell phone went off. It was her obstetrician, calling to inform her that the “test” came back “positive” for Down syndrome. She froze, she wrote. After all of those years shopping in the same store, she could not find the door. Another mother, then a third-grade teacher, recounted how the PA speaker announced while she was teaching that an “important phone call” was awaiting her in the administrative offices. She told her class to read their books, while she walked to the principal’s office. It was the obstetrician’s assistant. “We wanted to tell you right away: it’s Down syndrome,” the mother recalled. She was unable to return to her class.

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The impact of prenatal testing for Down syndrome

Brian Skotko, MD, MPP

By Brian Skotko, MD, MPP

I was recently asked by the editor of the medical journal, Archives of Disease in Childhood, to size up the impact of prenatal testing for Down syndrome. After reviewing research from around the globe, I learned that the number of babies born with Down syndrome has been steadily decreasing.  In the United States, alone, there would have been a 34% increase in the number of babies born with Down syndrome between 1989 and 2005, in the absence of prenatal testing.  Instead, there were 15% fewer babies born, representing a 49% decrease between expected and observed rates.

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