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Of the 140 million babies born worldwide each year, 6-8% are at risk for hereditary genetic diseases. 

Amniocentesis is considered the gold standard for detecting fetal genetic risks with high accuracy, but it is invasive, has some risks for mother and baby, and cannot be done until at least 15 weeks into the pregnancy. 

The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about 10 percent of known genetic disorders, including Tay-Sachs, cystic fibrosis and spinal muscular atrophy. 

A breakthrough blood test developed in Israel is poised to make prenatal genetic testing available earlier, noninvasively and comprehensively: It can detect the risk of 250 diseases with high accuracy.

Identifai was founded in 2021 based on the research of Tel Aviv University Prof. Noam Shomron, a world expert in genetics and bioinformatics. 

Using artificial intelligence and machine learning, Identifai’s technology requires nothing more than a maternal blood sample. After isolating fetal DNA from maternal DNA, it does a full, rapid fetal genetic sequencing starting from just nine weeks’ gestation. 

The technology can detect mutations even in a single DNA base among billions, making it capable of identifying a wide range of hereditary genetic conditions.

“This is a tremendous step forward,” Identifai CEO Eyal Miller tells ISRAEL21c.

“If the mother is a carrier [of a genetic disease], we can do the whole genome sequencing for the fetus and provide a clinical report with a negative predictive value of more than 90%,” he explains. 

“This means that if results are negative, the likelihood of the fetus having [a genetic disease] is close to zero. And that gives immediate relief to the parents. On the other hand, if the results are positive, the parents know exactly what they’re dealing with,” Miller adds.

“That dramatically changes the whole ecosystem from the point of view of parents, clinicians and genetic counselors. This is why we shine.”

Gamechanger

The Israeli technology, expected to be commercialized in the second half of 2025 following additional clinical trials in Israel and the United States, has already gained international recognition through the publication of a study conducted at Israel’s Beilinson and Meir hospitals.

Chosen as the cover story of the global journal Prenatal Diagnosis last August, the study involved 18 cases where both parents were carriers of genetic diseases. Identifai’s system analyzed the mothers’ blood samples and predicted fetal risks with 100% accuracy, matching the results from amniocentesis. 

Identifai will soon release results from a larger study at Columbia University Medical Center in New York.

“At Columbia, we came across parents who carry a rare genetic disease and they were amazed that we can provide a very simple solution very early in the process in order to give them certainty about the status of the fetus as soon as possible,” Miller says. 

The couple wrote to Identifai: “Our reproductive journey has been hugely impacted by the knowledge of being carriers and we hope that this kind of non-invasive testing becomes available one day in the future for families like us.”

The benefits of knowing

Identifai generates a report for parents and their healthcare provider, detailing the probability of the fetus carrying or developing specific genetic conditions and how they might manifest if the pregnancy continues. 

“Couples are aware very early if the fetus has some type of disease, which means they can make a decision about what lies ahead,” says Miller. 

“If you’ve decided to maintain the pregnancy, there are specific hospitals in the United States that can treat the fetus, or the newborn, immediately once a clear diagnosis is in place.”

Furthermore, Identifai needs only maternal blood for analysis, which is helpful in the many cases where the father is unavailable or unknown. 

“If the mother is a carrier and you can’t find the father, the only thing to do until now has been to keep your fingers crossed and pray and then do invasive amnio,” says Miller.

In addition to the medical advantages of the test, Miller adds, there’s an emotional and psychological advantage because amniocentesis “causes enormous anxiety and stress” and many expectant couples don’t want it. 

A $6 billion market

Miller says the prenatal testing market is currently valued at $6 billion annually, with NIPT tests making up half of that amount. This market is expected to grow to $19 billion by 2030. 

“Our ability to detect fetal risk for hundreds of genetic conditions will expand this market to hundreds of billions, including early in-utero surgeries and detection of late-stage conditions where amniocentesis is no longer an option,” he says.

“Furthermore, this solution, which does not require FDA approval, will be accessible, convenient, and effective for populations worldwide who avoid amniocentesis for cultural reasons, for millions of pregnancies where the father’s identity is unknown, and in response to new US legislation limiting abortions and amniocentesis tests that might justify terminations.”

Identifai has received grants from the Israel Innovation Authority and raised $6.5 million from investors including the Shizim Fund as well as eHealth Ventures, which supports early-stage digital health companies from the initial stages of R&D through capital raising, business development, commercialization, and market entry. 

Identifai employs 15 people in its Tel Aviv offices. Miller says a US office will be established to support clinical, marketing and operational activities in that target market.

For more information, click here. 

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