In a recent study published in GIM, researchers assessed an expanded non-invasive prenatal screening test on 94,000 women and found the predictive value for DiGeorge Syndrome was higher than that of current screens. In this month’s episode of GIM’s GenePod podcast, host Cynthia Graber talks with study author Dr. Deshang Liang about how the new screen might improve upon current widely available screening tests by having a higher detection rate of clinically significant fetal chromosome abnormalities. They also discuss how the implementation of expanded screening could stretch genetic counseling resources and touch on other potential concerns.
Related article:
https://www.nature.com/articles/s41436-019-0467-4
