Down syndrome

Diana Bianchi on Prenatal Testing

Diana Bianchi began her career in genetics so long ago that she needed to make one thing clear: “I’m not that old. I just started young.” And it’s true! Diana fell in love with the study of chromosomes back in high school and returned to it as a pediatrician and a specialist in neonatal medicine. From the start of her career, she has been absorbed in the question of how to pull information on the fetus from the maternal bloodstream. Her work has led her through a 3-decade+ academic career (where she was lead author on a landmark 2014 study showing the clinical value of cell-free DNA testing) and now to the NIH, where she directs the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Diana joins us here today to discuss the past, present, and future of prenatal genetic testing.

Difference or Disability? with Rosemarie Garland Thomson

Rosemarie Garland Thompson is a professor of English and Bioethics at Emory University. She has been called a “thought leader” in disability studies. She is co-editor of About Us: Essays from the New York Times about Disability by People with Disabilities. She is here today to discuss disability rights in the light of prenatal genetic testing.

Rachel Adams

Rachel Adam’s life took an unexpected turn 11 years ago, when her son was diagnosed with Down syndrome shortly after birth. Her memoir, Raising Henry, is a deeply thoughtful and eloquent look at her own experience as a mother and her introduction into the Down syndrome community. She shares some of that eloquence with us, and talks about the challenge of being both a staunch believer in the right to choose, and an advocate for not only her son, but the whole concept of Down syndrome as an example of “healthy disability.”

Here is the link for Lettercase, the site that Rachel mentions that offers the excellent resource Understanding a Down Syndrome Diagnosis in several languages.

Here’s Henry at Halloween, dressed (obviously!) as Gaston from Beauty and the Beast. Henry, we have on good authority, knows every word of Beauty and the Beast. Also, his mother informs us, he tends to like the villains…


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