Stories about: prenatal test 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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Debate over prenatal testing for Down syndrome continues

Brian Skotko, MD, MPP

Brian Skotko, MD, MPP, a clinical fellow in genetics at Children’s Hospital Boston’s Down Syndrome Program, recently wrote a Thrive editorial about a soon-to-be available prenatal test for Down syndrome, which could safely and inexpensively detect whether or not a fetus has Down syndrome during the first trimester of a pregnancy. According to Skotko, once this test becomes widely available it will raise many ethical questions in regards to the already staggering pregnancy termination rates of fetuses with Down syndrome. (Current numbers show that about 90 percent of unborn children worldwide who test positive for Down syndrome are terminated.)

In less than a month’s time the post has been viewed over 8,500 times on Thrive alone, and has lead to debate on Down syndrome websites, Facebook, NPR and now television. Last night Dr. Skotko joined Dr. Lachlan Forrow, Director of Ethics at Beth Israel Deaconess Medical Center, on WGBH’s Greater Boston, to discuss prenatal testing and the effect it will have on both the Down syndrome community and the population at-large.

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Will babies with Down syndrome slowly disappear?

Written by Brian Skotko, MD, MPP

Children’s Hospital Boston Clinical Genetics Fellow, Down Syndrome Program

Brian Skotko, MD, MPP

Last week a breaking study in the British Medical Journal offered a glimpse into our reproductive futures: soon, a non-invasive test will allow expectant mothers to know whether their fetus has Down syndrome.

Current prenatal tests for Down syndrome are invasive and can potentially cause a miscarriage, making them undesirable for many women. But now scientists have learned how to quantify the fetal copies of the 21st chromosome, the genetic basis for Down syndrome, with a simple blood test taken in the first trimester. These tests would be safer, faster, and, most likely, cheaper than anything available today.

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