World Down Syndrome Day was bookended by two pieces of legislation. The week after 3/21, North Dakota enacted its law banning Down syndrome-selective abortion, which I wrote about at this post. The week before 3/21, Kentucky passed the Down Syndrome Information Act, requiring written materials and referral to parent support organizations with every Down syndrome diagnosis, prenatal or postnatal, which I wrote about here. In a recent column in TIME magazine, the two laws were discussed. Continue Reading
March 28, 2013
The nonmaleficent role of NIPT
At last week's ACMG Annual Clinical Meeting, I presented a poster titled "The Ethics of Non-Invasive Prenatal Testing." It turns out that the logic of my argument could very well be reflected in practice guidelines that are soon-to-be-released. I doubt the force of my abstract submitted last winter is to account for the change. But, it is a bit ironic that because NIPT will cause a test with risk to potentially have greater risk, NIPT has justified itself being inserted as a step before the test Continue Reading
March 26, 2013
North Dakota enacts law banning Down syndrome-selective abortion
Yesterday, the Governor of North Dakota signed House Bill 1305, prohibiting sex-selective abortion and abortion for genetic abnormality. That same day, the Governor also signed a law banning abortion once a fetal heartbeat is detected. As a result, with abortion being invoked, the media reporting and instant comments devolved into pro-life/pro-choice arguments. But let's look at the actual language of the law that concerns Down syndrome abortions and see what it actually says before we choose Continue Reading
March 26, 2013
When cell free fetal DNA isn’t
For years, I’ve been presenting at conferences on prenatal testing for Down syndrome, explaining how the new tests are based on cell free fetal DNA or “cffDNA.” Turns out I was wrong. Here’s why. Continue Reading
March 25, 2013
Why is there prenatal testing for Down syndrome?
At my very first national medical conference, I received an answer to the question: why is there prenatal testing for Down syndrome? I have shared the response I received in many presentations. At last week’s ACMG conference, I learned of another reason. It struck me as profound. I wonder what you think about it. Continue Reading
March 19, 2013
WDSD & The Down Syndrome Information Act on TV
WDRB 41 Louisville - News, Weather, Sports Community Thursday is World Down Syndrome Day (WDSD). March 21st was chosen as the numerical date, 3/21, reflects the genetic cause of Down syndrome, a triplicate of the 21st Chromosome. Today, a local news affiliate featured my local organization in preparation for WDSD. Watch the video to see self-advocate Chris getting ready to make our host breakfast and your blog's author interviewed about the recently-passed Down Syndrome Information Continue Reading
March 15, 2013
Kentucky joins Massachusetts in expanding information about Down syndrome
Yesterday, Governor Steve Beshear signed into law Senate Bill 34, referred to already as "The Down Syndrome Information Bill." The bill was patterned after a 2012 Massachusetts law. It requires that any health care professional or facility that delivers a Down syndrome diagnosis, prenatally or postnatally, also provide the family with up-to-date, evidence-based, written information and the contact information for national and local support programs and services, specifically listing Down Continue Reading
March 12, 2013
So many choices: what does each do & how much do they cost?
Next week, I travel to Phoenix to give a poster presentation at the 2013 Annual Meeting for the American College of Medical Genetics (ACMG). I receive a daily invitations in my inbox to visit the booth for one of the manufacturers for the new Non-Invasive Prenatal Testing (NIPT). But what does each test test for, and how much do they cost? Continue Reading
Creating an ordinary life for an extraordinary person
Do you know about the TED talks? I discovered them several years ago and find them an endless source of inspiration and challenging ideas. The talk featured in this post (and at this link) is one of the best I've seen. Continue Reading