prenatal testing

22Q11 Deletion Syndrome – the most common version of a rare thing, affecting close to 1 in 1000 births – is no picnic for genetic counselors. Presentation is complex and unpredictable and can include structural, developmental, and behavioral manifestations. The history of 22Q is a mirror of genomic medicine, with diagnosis by phenotype giving way to diagnosis by genotype, and in the process expanding our definition of “affected.” Donna McDonald-McGinn, who has been working with families dealing with 22Q11 Deletion Syndrome at the Children’s Hospital of Philadelphia for over 2 decades, is on a first-name basis with much of that history, and comes on the Beagle today to share her enthusiasm for working with this special community, and discuss the arguments for adding 22Q to the current Newborn Screening panel – and what the recent New York Times article on microdeletion testing in the prenatal phase got wrong.

Hannah Llorin is a reproductive genetic counselor at Brigham and Women’s Hospital in Boston, and Kim Zayhowski is a cancer genetic counselor at Boston Medical Center and a faculty member at the Boston University Genetic Counseling Program. Recently, Kim and Hannah co-authored a Perspectives article questioning whether the language we use when discussing NIPT results reinforces an inaccurate understanding of the relationship between sex and gender, and ignores the existence of a vulnerable minority of folks who are born intersex. Kim and Hannah join us today to discuss their article, their thoughts on how to be better, and their own budding role as activists in the genetic counseling community.

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.