Written by Brian Skotko, MD, MPP
Children’s Hospital Boston Clinical Genetics Fellow, Down Syndrome Program
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. …
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. …