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Israeli startup develops AI to detect 250 genetic diseases in fetuses from maternal blood

Israeli startup develops AI to detect 250 genetic diseases in fetuses from maternal blood

IdentifAI's technology analyzes fetal DNA at just nine weeks gestation, expanding prenatal testing capabilities. 

CTech | 08:32, 09.12.24

IdentifAI, an Israeli health-tech company, has developed a non-invasive prenatal testing (NIPT) technology capable of identifying 250 hereditary genetic disorders from a maternal blood sample. The breakthrough builds on the research of Professor Noam Shomron of Tel Aviv University, a leading expert in genetics and bioinformatics.

The company’s approach isolates fetal DNA from maternal DNA in blood samples and uses artificial intelligence and machine learning to conduct full genetic sequencing from as early as nine weeks of pregnancy. This marks a significant expansion of current NIPT capabilities, which are limited to detecting about 25 genetic conditions such as Tay-Sachs and cystic fibrosis.

IdentifAI CEO Eyal Miller. IdentifAI CEO Eyal Miller. IdentifAI CEO Eyal Miller.

Clinical trials at Israel’s Beilinson and Meir hospitals demonstrated the system’s accuracy. In tests involving 18 pregnant women, IdentifAI’s technology correctly identified fetal risks, with results matching those of amniocentesis, a more invasive procedure. These findings were published in Prenatal Diagnosis, a leading journal in the field.

The company is conducting further trials in the United States, including a recent study at Columbia University Medical Center. Seven additional U.S. medical centers are set to participate in upcoming trials.

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While traditional amniocentesis remains the gold standard for prenatal genetic testing, its invasive nature poses risks to both the mother and fetus. NIPTs have gained popularity as a safer alternative but have been constrained by their limited scope. IdentifAI’s technology, capable of detecting mutations in single DNA bases, aims to address this gap.

The market for NIPTs is expected to grow significantly, from its current $6 billion valuation to $19 billion by 2030, driven by advances in technology and increased demand for non-invasive solutions.

To date, IdentifAI has raised $6.5 million from eHealth Ventures specializing in healthtech investments, Shizim Fund, and additional investors, along with grants from the Israel Innovation Authority. The company employs 15 people in its Tel Aviv offices.

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