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 »
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 »
by Childrens Hospital Boston staff on January 20, 2011
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. Full story »
by Childrens Hospital Boston staff on November 3, 2010
Grace
Melanie McLaughlin Perkins is the mother of Grace, a girl born with Down syndrome and a heart defect, who has been receiving care at Children’s Hospital Boston her whole life. In the following post Melanie shares her thoughts on “Monica and David,” a new documentary following the lives of a young newlywed couple, both of whom have Down syndrome. Based on popular demand the program will re-air tonight on HBO2 at 8 pm.
In May of 2007 life was moving along perfectly. We had two healthy children, a girl and a boy, a beautiful home and a loyal golden retriever. I was celebrating a pinnacle in my career. Like I said, everything was perfect.
But I had a secret. I was almost 12 weeks pregnant with our third child. Only my husband and I knew. We went in for our 12-week ultrasound mostly, we thought, to see the baby’s heartbeat. Suddenly we were overwhelmed with information about nuchal translucency and percentages and ratios. We were told there was a possibility our child might have Down syndrome or a heart defect. I distinctly remember praying it would be “just a heart defect.”
Clearly, I had no experience in matters of the heart – in so many ways. Full story »
by Judy Palfrey, MD, FAAP on January 26, 2010
Children’s Judith Palfrey, MD, FAAP, president of the American Academy of Pediatrics writes about the most urgent children’s health stories that were neglected by the media last year:
This past year, the newspapers and blogs were full of stories about H1N1, obesity, autism and health care reform. These are all important and newsworthy topics, but there are other stories that are perhaps less flashy, but nonetheless have worth on their own merit.
As far as I am concerned, one of the biggest of these is the story of our adolescents and young adults with chronic conditions and disabilities. Quietly and without fanfare, as a result of the great innovations of medicine and surgery, the numbers of adolescents and young adults with significant health problems has been rising in the United States. Full story »
by Childrens Hospital Boston staff on November 7, 2009
Other stories we’ve been reading:
The Swiss drug maker, Novartis, says it will meet the United State’s H1N1 vaccine order on time and new research shows that people on cholesterol-lowering drugs are twice as likely to survive seasonal flu hospitalizations. The World Health Organization announced, again, that the H1N1 vaccine is safe and that one dose is enough for everyone except children under the age of 10, who need two doses. NPR’s Morning Edition interviewed Children’s experts about what parents should do when they think their child has the flu.
Does your toddler have enough educational toys? This writer argues you should hand her an iphone. We know that you’re proud of your kid, but could all of that bragging end up hurting them? Down syndrome births are way down in the United States. ABC news explores why.
by Childrens Hospital Boston staff on September 30, 2009
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. Full story »
by Erin Graham on September 14, 2009
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. Full story »
