The AI That Can Diagnose Genetic Birth Defects in Hours Instead of Months
Every year, millions of parents-to-be stare at ultrasound images, hoping for reassurance and bracing for uncertainty. For about 6% of all pregnancies worldwide, the scan reveals something unexpected: a structural anomaly in the developing fetus. A heart that formed differently. A spine that didn’t close. In the moments that follow, a grueling diagnostic odyssey begins — one that, even with the best genetic sequencing technology, can take months or years and often ends without answers. A new artificial intelligence system from Zhejiang University, described in a preprint posted this week, just made that journey dramatically shorter. Its name is DeepBD, and it might be the closest thing yet to a diagnostic safety net for the most vulnerable patients who will never speak for themselves.