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 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
January 15, 2013
Words matter: how to describe NIPT & Down syndrome
This news report is far better than most I have seen in providing balance in the information shared about the new non-invasive prenatal testing (NIPT) for Down syndrome (and it's the first I ever remember seeing where an amniocentesis is actually filmed as it is performed). That said, what words or phrases or the way the information is presented jump out at you as having room for improvement in being less biased against Down syndrome? I have suggested to the leadership of the Canadian Continue Reading
December 4, 2012
Verinata’s Prenatal Testing Flow Chart: Unethical?
As I’ve mentioned before, on the home page there is a scroll of my twitter feed. Like this blog, I typically tweet about news related to Down syndrome and/or prenatal testing. But, sometimes Twitter’s 140-character limit is not enough to provide a thorough analysis of ethical issues. Verinata is a laboratory that developed its version of non-invasive prenatal testing (NIPT), which has the brand name "verifi." Featured on its website is the following decision-making flow chart for prenatal Continue Reading
November 23, 2012
Breaking News: ACOG Issues New Guidelines on NIPT
Since the 1990's, when fragments of cell free fetal DNA (cffDNA) were found in the mother's blood stream, researchers have been on a quest for what is regularly termed "The Holy Grail" of prenatal testing: a diagnostic test from just a mother's blood sample. If the fetal DNA could be identified and tested, then the fetus' genetic code could be diagnosed. Mothers (and practitioners) would be able to receive a diagnosis without risking miscarriage, as must be done with current diagnostic tests, Continue Reading
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