prenatal diagnostics

Ten years ago, prenatal testing was revolutionized by the introduction of non-invasive testing, which improved the positive predictive value of testing while reanimating concerns that have dogged reproductive genetics from the get-go: what should we test for and who should decide? Now, start-up Luna Genetics has announced its arrival, bringing to market the first non-invasive test that will look at intact cells from the fetus (well, the fetal placenta). Will Luna upend the prenatal testing market once again? NIPT took a hit with a critical front-page article in the NY Times last week. Does Luna represent another blow?

Joining us to answer these questions (and others) is Dr. Ron Wapner, Director of Maternal-Fetal Medicine at Columbia Presbyterian Hospital in New York. Ron has been a pioneer in reproductive genetics, having witnessed and participated in the evolution of the field, and he is a member of the Luna Genetics Scientific Advisory Board.

Rayna Rapp is Professor of anthropology and an affiliate at the center for disability studies at NYU.

Laura welcomes Rayna Rapp, feminist, medical anthropologist and all-around sage, who has worked for decades in the study of the social impact of prenatal genetic testing. Her 1999 book, "Testing Women; Testing the Fetus; the Social Impact of Amniocentesis in America," is a classic that has influenced generations of genetic counselors.

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…