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brian skotko

Grace

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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Brian Skotko, MD, MPP, a physician at Children’s Hospital Boston’s Down Syndrome Program, recently wrote an Op-Ed piece for USA Today, where he addresses concerns raised by a new, easy to administer blood test that can screen for Down syndrome in-utero. In the piece, Skotko wonders what effect the simple and affordable test will have on the birth rates of children with Down syndrome and discusses his own research that shows that a majority of families living with a Down syndrome family member cite the experience as positive.

In mid-October, pregnancy as we know it forever changed in America. The company Sequenom announced that with a simple blood draw at 10 weeks of gestation, a pregnant woman can now learn with near 99% accuracy whether her fetus has Down syndrome. …

With these new tests, however, America also confronts expectant parents with a parade of uncomfortable questions. Currently, only 2% of pregnant women are pursuing chorionic villus sampling or amniocentesis. Now, with the simpler blood test, the percentage of women who may choose to undergo testing will grow, if not skyrocket. As the doctors phone the news of the results, more and more expectant couples will be frantically asking: What does it mean to have a child with Down syndrome? And do we really want to find out?

My research colleagues Sue Levine, Rick Goldstein and I recently surveyed more than 3,000 families nationwide who have a member with Down syndrome. The positive results might surprise some: 99% of parents say that they truly love their son or daughter with Down syndrome; 88% of brothers and sisters say that they are better people because of their sibling with Down syndrome; and people with Down syndrome, themselves, spoke up, too: 99% are happy with their lives, and 97% like who they are. My sister with Down syndrome certainly does. (I often wonder: How many Americans can say the same?)

But will this matter? …

To read the rest of Skotko’s opinion piece, please click here.

To see more of Skotko’s writing on Thriving, please browse the many blog posts he’s written as an advocate for people with Down syndrome.

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Let’s get real about Down syndrome

by Boston Children's Hospital staff on September 23, 2011

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. Full story »

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Children’s in the news

by Tripp Underwood on February 5, 2011

Here at Children’s Hospital Boston, our staff prides itself on providing world-class care for every patient that comes through our doors. But when they’re not busy performing surgeries, setting bones or caring for patients, many of our clinicians are doing research that will shape the future of pediatrics, or discussing how those changes will impact everyday care for thousands of people. Here’s a quick round up of what Children’s employees have been discussing with the media this past week.

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A safer and earlier way to determine if a fetus has Down syndrome is being studied

An article in The Los Angeles Times discusses new technology soon to be available that will allow women to know early in their pregnancy whether they are carrying a fetus with Down syndrome. Children’s Brian Skotko, MD, MPP, speaks with the paper about the new tests – which are noninvasive and will pose fewer risks to the mother and fetus than current prenatal testing—and the questions they raise.

Dr. Skotko wrote a similar piece for Thrive last week and has opened a wide debate on the subject of prenatal testing.

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Full story »

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Against my better judgement: a week in review

by Matt Cyr on January 31, 2011

I don’t usually like to do Thrive posts that wrap up a previous week’s events, but last week was an interesting and exciting week on Thrive and at Children’s Hospital Boston, so I thought I’d break my own rule just this once (and I reserve the right to break it again!)

The post by Dr. Brian Skotko (shown here with his sisters Kristin and Allison) generated a lot of conversation—and controversy.

The most widely read, shared and commented on post—by far—was Dr. Brian Skotko’s thought-provoking article, “Will babies with Down syndrome slowly disappear?” Dr. Skotko, a clinical genetics fellow in Children’s Down Syndrome Program and the brother of a young woman with Down syndrome, talked about a new study that says mothers-to-be will soon be able to get a simple blood test during the first trimester of pregnancy that will let them know if their baby will have Down syndrome. This caused Dr. Skotko to ask: Full story »

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Obama signs Rosa’s Law

by Tripp Underwood on October 7, 2010

Mirroring a Massachusetts law passed earlier this year, President Obama recently signed Rosa’s Law, mandating the removal of the terms “mental retardation” and “mentally retarded” from all federal education, health and labor laws and replacing them with the words “intellectual disability.”

The bill was proposed because many Americans feel after years of misuse the word ‘retarded’ now qualifies as  hurtful speech.

“This law is about families fighting for the respect and dignity of their loved ones. It was driven by a passion for social justice and compassion for the human condition,” said the bill’s sponsor Senator Barbara Mikulski (D- Md.), in a press release. “It’s a perfect example of citizen advocacy.”

Brian Skotko, MD, MPP, a specialist in Children’s Hospital Boston’s Down Syndrome Program had this to say about Rosa’s Law and the impact the R-word can have on people with intellectual disabilities and their families.

“At last, the R-word has now been banished from the Oval Office.  When President Obama signed the U.S. Congress’s law to retire the R-word from federal statutes, our nation took one more step to bury a word that has come to stigmatize an important segment of our society.  People with disabilities can and do make important contributions to our communities, and my earnest hope is that we can now all embrace another “r” word–respect.”

To read more from Dr. Skotko’s on the importance of sensitive language as it relates to people with intellectual disabilities, please click here.

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