The International Society for Prenatal Diagnosis (ISPD) issued a policy statement that sets forth its position on prenatal testing for Down syndrome. The policy statement was prompted by the new prenatal testing for Down syndrome called Non-Invasive Prenatal Screening (NIPS), where a mother's risk assessment is recalculated based on testing cell free DNA in her blood stream. ISPD has a "serious concern" about NIPS. Read on to find out why. Continue Reading
April 8, 2013
What is the optimal prenatal testing protocol for Down syndrome?
Last week, both the American College of Medical Genetics and Genomics and the International Society for Prenatal Diagnosis (ISPD) issued position statements on the latest developments in prenatal testing for Down syndrome. I selected highlights here. In this post, I cover what the ISPD statement claims is "optimal" for prenatal testing for Down syndrome. Continue Reading
April 5, 2013
A new age of prenatal testing for Down syndrome: a new name, new policy statements, and recognized resources for patients
On the same day, two major medical professional organizations announced their respective position statements concerning the newest form of prenatal testing for Down syndrome. There is A LOT to analyze, but here are some instant highlights from both. Continue Reading
March 29, 2013
News coverage of the Down Syndrome Information Act
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 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 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 7, 2013
How to deliver a Down syndrome diagnosis?
With the advances in prenatal testing and guidelines recommending prenatal testing be offered to all expectant mothers, more Down syndrome diagnoses are being delivered than ever before. But how should a Down syndrome diagnosis be delivered? Fortunately, there is a very helpful resource that is also a professional guideline by those who should know best. Continue Reading
February 27, 2013
The need for care and support
This past weekend was the Down Syndrome Affiliates in Action conference. Consistent with past years, the schedule featured sharing sessions and breakouts on best practices for medical outreach and new and expectant parent support. With the advances being made in prenatal testing and research showing that the need for care and support is a key factor for expectant mothers making a decision following a prenatal diagnosis, this information is needed now more than ever. Continue Reading
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