More research presented at the 2014 American College of Medical Genetics & Genomics conference. A common theme emerges: non-invasive prenatal screening (NIPS) isn't what it's been promised to be, and patients are misunderstanding it. Continue Reading
May 21, 2014
ACMG Posters: studies do not support professional recommendations
I attended and presented a poster at this year's American College of Medical Genetics & Genomics conference, held in Nashville, Tennessee. Here's what some of the other posters reported on the research their authors had conducted regarding prenatal testing. Continue Reading
May 12, 2014
Delaware and Maryland join Massachusetts and Kentucky in enacting laws to provide information with a Down syndrome test result
Last week, Governor O'Malley of Maryland and then Governor Markell of Delaware each signed laws requiring that their state agencies provide accurate, up-to-date information about Down syndrome for parents receiving a test result. They join Massachusetts (2012) and Kentucky (2013) in passing such legislation. Continue Reading
May 8, 2014
Your MaterniT21 test is NEVER positive
And it's NEVER negative, either. Continue Reading
May 1, 2014
We shouldn’t have to justify children with Down syndrome being born
Rachel Adams, the author of Raising Henry, has a piece in the new issue of American Journal of Medical Genetics, Part A. You should read it and its lines should be inscribed in offices around the world. Continue Reading
April 14, 2014
Physicians: too many doing Down syndrome prenatal testing wrong
A study of parents of children with Down syndrome reports on their experiences with finding out the diagnosis. It finds that too many physicians still are doing it wrong. Continue Reading
March 21, 2014
World Down Syndrome Day: Such Good News To Share
Today is World Down Syndrome Day. I have an op-ed in our local paper; a webinar at noon on prenatal testing; a new organization supporting moms launches; and your support is needed! Continue Reading
March 20, 2014
World Down Syndrome Day in the news
Today, my daughter and I had the opportunity to talk about World Down Syndrome Day with John Ramsey on WAVE Listens Live on our local NBC affiliate. Above is the video of the segment and below are links regarding the topics we discussed. Continue Reading
March 19, 2014
Dear future mom expecting a child with Down syndrome
I hope you'll join the million of others who have watched the above video, produced through a collaboration of organizations including the Jerome Lejeune Foundation and Saving Downs. I already expect what some will think of it. Here's what I have to say about that. Continue Reading
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