A new post on The DNA Exchange observes that, while a genetic diagnosis may seem like the end of a journey for a clinician, it’s really the beginning of a lifelong journey for individuals and families. And, even more importantly, that journey isn’t entirely defined by clinical diagnoses or encounters. … More Diagnosis begins a journey
We’re happy to report that we’ve resubmitted our application for R01 grant funding from the National Institutes of Health. This project is based at Case Western Reserve University and we are collaborating with University Hospitals of Cleveland, the Mayo Clinic, the Albert Einstein College of Medicine/Montefiore Medical Center, and the University of North Carolina-Chapel Hill–in … More Grant resubmission complete
The guiding question of the PREPARE study is: What helps parents prepare for the birth of a child with a genetic condition? And the answer is: we just don’t know for sure. Surprisingly, given how often we talk about prenatal testing as giving parents information that will help them prepare, there are simply no studies … More Does prenatal testing help parents prepare?
It may surprise you to learn that even for Down syndrome, the condition most commonly tested for during pregnancy, there are no standard clinical recommendations for how to “prepare” for a birth and a child with the condition. … More Preparing for birth
Many women choose to have testing during pregnancy to learn whether their future child is likely to have a genetic condition. Different tests can give women different levels of certainty about what to expect from their pregnancy and birth, but no test can predict the future 100%. … More Prenatal genetic testing