Prenatal genomics is a success story of genomic medicine that has translated, and even transformed, clinical care. Noninvasive prenatal sequencing of cell-free DNA that circulates in the plasma of pregnant women has improved both the accuracy and predictive values of screening for the common fetal chromosome abnormalities. The widespread implementation of prenatal genomic sequencing has also raised numerous ethical issues, such as "for which conditions should we offer prenatal screening?" and "should we report out secondary findings that derive from the mother's DNA?" and "how do we train the next generation of obstetricians to perform diagnostic procedures, since fewer need to be performed as a result of improved screening?"
Prenatal Genomics and Therapy (PGT) section researchers focus on three distinct but related areas related to pregnant women and their children. In the first area, the group is determining the various biological explanations for noninvasive prenatal sequencing results that are discordant with the results of diagnostic testing. For example, what are the DNA sequencing patterns that would lead to a suspicion of maternal cancer, and what further work-up is indicated? In the second, researchers are comparing prenatal patterns of gene expression in atypical versus typically developing children. Our hypothesis is that by prenatally identifying differences, treatment can begin as early as possible. In the third area, researchers focus on developing novel treatments to improve neurocognition and brain development in fetuses with Down syndrome. Potential therapies have been identified by comparing gene expression differences in humans with trisomy 21 to euploid controls, and three different mouse models of Down syndrome, Ts65Dn, Ts1Cje, and Dp(16)1YeY, to their wild-type littermates. The group is testing the safety and efficacy of different FDA-approved compounds that are predicted to improve both pathway abnormalities, deficits in neurogenesis and various behavioral and memory tests in mice.
Diana W. Bianchi, M.D., is the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at NHGRI. She oversees the research on pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas. These efforts include managing a staff of approximately 1,400 people and an annual budget of approximately $1.3 billion. Dr. Bianchi serves as an ambassador and spokesperson for NICHD.
Dr. Bianchi received her B.A. magna cum laude from the University of Pennsylvania and her M.D. from Stanford University School of Medicine. She completed her residency training in pediatrics at the Children's Hospital, Boston, and her postdoctoral fellowship training in medical genetics and Neonatal-Perinatal Medicine, both at Harvard. She is board-certified in all three specialties and is a practicing medical geneticist with special expertise in reproductive genetics. Dr. Bianchi's translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis, and investigating the fetal transcriptome to develop new therapies for genetic disorders that can be given prenatally.
Dr. Bianchi has published over 300 peer-reviewed articles, and she is one of four authors of Fetology: Diagnosis and Management of the Fetal Patient. This book won the Association of American Publishers award for best textbook in clinical medicine in 2000. The second edition was published in April 2010 and is in its third printing. It has been translated into Japanese, Mandarin and Spanish.
Dr. Bianchi is recognized widely for her leadership roles. She spent 23 years at Tufts Medical Center, where she was the founding executive director of the Mother Infant Research Institute, as well as the Natalie V. Zucker Professor of Pediatrics, Obstetrics and Gynecology at Tufts University School of Medicine. Dr. Bianchi also was the vice chair for Pediatric Research at the Floating Hospital for Children, Boston. From 2011 through 2015, she served on the National Advisory Council of NICHD. She is currently editor-in-chief of the international journal Prenatal Diagnosis and is a past president of the International Society for Prenatal Diagnosis and the Perinatal Research Society. She is a former member of the Board of Directors of the American Society for Human Genetics and a former council member of both the Society for Pediatric Research and the American Pediatric Society. She was elected to membership in the National Academy of Medicine (formerly the Institute of Medicine) in 2013.
Dr. Bianchi has received three major lifetime achievement awards. The Colonel Harland D. Sanders Lifetime Achievement Award in Genetics, given in 2017 by the March of Dimes, recognized her pioneering work on maternal and fetal cellular communication, including their significance in disease and diagnostics, and for exploring treatments of fetal disorders. The Maureen Andrew Award for Mentoring, given in 2016 by the Society for Pediatric Research, recognized her commitment to mentoring the next generation of clinician-scientists. The Landmark Award, from the American Academy of Pediatrics, was given in 2015 in recognition of her research and contributions to genetics and newborn care.
Last Updated: November 27, 2017