December 2024: Shomron: Israeli startup develops AI to detect 250 genetic diseases in fetuses from maternal blood

IdentifAI, an Israeli health-tech innovator, has developed a non-invasive prenatal testing (NIPT) technology that can identify up to 250 hereditary genetic disorders from a simple maternal blood sample. This breakthrough, Published in Prenatal Diagnosis, building on the research of Prof. Noam Shomron, an Edmond J. Safra member (Medicine), represents a major leap from current NIPT standards, which are limited to detecting around 25 genetic conditions like Tay-Sachs and cystic fibrosis.

The technology uses advanced artificial intelligence and machine learning to isolate fetal DNA from maternal DNA in blood samples and perform comprehensive genetic sequencing as early as nine weeks into pregnancy. Clinical trials at Israel’s Beilinson and Meir Medical Centers demonstrated exceptional accuracy, with results from 18 pregnancies aligning perfectly with invasive amniocentesis findings.

To further validate the technology, IdentifAI has initiated trials in the United States, including a recent study at Columbia University Medical Center, with seven additional medical centers scheduled to join upcoming research efforts.

Read more here.