March 2025: Shomron and Rabinowitz: AI model may replace amniocentesis
Prof. Noam Shomron, Edmond J. Safra member (Medicine), Dr. Tom Rabinowitz, former Edmond J. Safra PhD student fellow (Medicine) and colleagues from Rabin Medical Center, have developed an innovative technology that combines a simple blood test from the mother with an AI-powered model to identify genetic disorders in the fetus.
In a new study, published in Briefings in Bioinformatics, artificial intelligence-based models replaced invasive procedures for detecting genetic mutations in fetuses.
Prof. Noam Shomron, Edmond J. Safra member (Medicine), Dr. Tom Rabinowitz, former Edmond J. Safra PhD student fellow (Medicine) and colleagues from Rabin Medical Center (Beilinson Hospital), have developed an innovative technology that combines a simple blood test from the mother with an AI-powered model to identify genetic disorders, such as amniocentesis, in the fetus. This model utilizes advanced bioinformatics technology to enable an early and comprehensive prenatal screening test for genetic syndromes. Early tests conducted on pregnant women treated at Beilinson Hospital have demonstrated remarkable accuracy.
The successful demonstration of the model's capabilities on pregnant women from the Raphael Recanati Genetics Institute at Rabin Medical Center was achieved in collaboration with Identifai Genetics, where Prof. Shomron is serving as the Chief Scientific Officer.
The research was featured in YNET.