Soon after many expectant mothers discover they are pregnant, they are offered the option to screen the fetus for the genetic disorder Down syndrome – yet this traditional screening can lead to false positives and further diagnostic testing, which can increase stress and risk of miscarriage.

But what if there were a more accurate alternative – a new method that could eliminate the need for invasive testing and unwarranted risk?

According to Diana Bianchi, director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health, cell-free DNA testing provides the most accurate form of prenatal screening for genetic abnormalities. As a bonus, this test also provides the pertinent information required for a successful gender reveal party.

“After seven weeks of gestation, the accuracy of fetal sex detection is very good using maternal blood," said Bianchi, who also serves as head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at the National Human Genome Research Institute (NHGRI), in an interview with Grow by WebMD.

Bianchi – an elected member of the National Academy of Medicine – will discuss the impact of this prenatal screening technique in a virtual talk titled, “Transforming Prenatal Screening: From New Technologies to Gender Reveal Parties,” at 5:30 p.m. on Thursday, Dec. 16.

Bianchi’s talk is the latest in the Maury Strauss Distinguished Public Lecture Series, hosted by the Fralin Biomedical Research Institute at VTC in Roanoke. The series is named for Maury Strauss, a Roanoke businessman and longtime community benefactor who recognized the importance of bringing top biomedical and health scientists to the Roanoke community. The lecture is available to all free of charge via Zoom and live feed on the research institute’s website.

“Dr. Bianchi is a global leader in reproductive genetics and genomics whose approach to prenatal screening has led her to the forefront of tomorrow’s health,” said Michael Friedlander, executive director of the Fralin Biomedical Research Institute and Virginia Tech’s vice president for health sciences and technology. “Her use of the latest scientifically validated techniques, coupled with her leadership as a medical geneticist and neonatologist, has positioned her to spearhead and cultivate transformative research that will impact prenatal screening practice around the world.”

Throughout her career, Bianchi has advanced non-invasive prenatal testing using blood tests, and pioneered the analysis of amniotic fluid fetal transcriptome – an emerging method used to evaluate gene expression changes and disease biomarker patterns during fetal development.

In her role at NICHD, Bianchi oversees pediatric health and development research.

Bianchi also recently co-chaired the Collaboration to Assess Risk and Identify Long-term Outcomes for Children with COVID task force, which explored why some children are more prone to COVID-19 infection and greater symptoms compared with others, and how to identify high-risk individuals prior to an exposure.

Prior to leading the NICHD, Bianchi worked at Tufts Medical Center for 23 years, where she was the founding executive director of the Mother Infant Research Institute. She has received the Colonel Harland D. Sanders Lifetime Achievement Award in Genetics from the March of Dimes, the Maureen Andrew Award for Mentoring from the Society for Pediatric Research, the International Society for Prenatal Diagnosis’s Pioneer Award, and the Health Public Service Visionary Award by the Society for Women’s Health Research. She has also been issued five patents for novel approaches to analyzing fetal DNA molecules.

Bianchi earned a bachelor’s degree magna cum laude at the University of Pennsylvania, a medical degree at Stanford University School of Medicine, and completed postdoctoral training at Boston Children’s Hospital and Harvard Medical School. She has an honorary doctorate from the University of Amsterdam.

Watch Bianchi’s lecture via Zoom or live webcast on the Fralin Biomedical Research Institute’s website.

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