Down Syndrome Prenatal Testing

Mark Leach May 29, 2014

ACMG Posters: non-invasive prenatal screening still has false positives

Another roundup of research presented at this year’s ACMG conference on prenatal testing for Down syndrome and other genetic conditions.

Filed Under: Informed Decision Making, NIPT Tagged With: ACMG, Ariosa, NIPS, Research

Mark Leach May 26, 2014

Memorial Day: the importance of having a mission

For this Memorial Day, ask yourself: what in your life is worth living for?

Filed Under: Informed Decision Making Tagged With: informed decision making, prenatal testing, Understanding

Mark Leach May 22, 2014

ACMG Posters: NIPS is causing misunderstanding

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.

Filed Under: Informed Decision Making, NIPT Tagged With: informed decision making, NIPS, Understanding

Mark Leach 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.

Filed Under: NIPT Tagged With: ACMG, informed decision making, NIPS, Sequenom

Mark Leach May 19, 2014

Our story: nothing has changed about Down syndrome, except how the world treats those with it

This past Saturday, our family got to experience something that would have been unimaginable when I was born. It shows nothing has changed about Down syndrome, except the way the world treats those with Down syndrome.

Filed Under: Our story Tagged With: History, inclusion, Living a life with Down syndrome, Stigmatization, Unexpected

Mark Leach May 15, 2014

Happy (Belated) Birthday, Jon Will

Jon Will celebrated his birthday at the start of May. Here’s a little bit about Jon and his parents.

Filed Under: A Life with Down syndrome Tagged With: DADS, Living a life with Down syndrome, Unexpected

Mark Leach 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.

Filed Under: Informed Decision Making Tagged With: A mother's take, Down syndrome resources, informed decision making, Regulations

Mark Leach May 9, 2014