A company heading to the ASX says a single blood sample from a pregnant mother can reveal serious inherited disorders in the first trimester.
For many parents, the first sign of Pompe disease comes after birth, in a baby whose heart and muscles are already under strain.
The rare inherited disorder leaves the body short of an enzyme called acid alpha-glucosidase, so a sugar called glycogen builds up and progressively damages the heart and skeletal muscles. In its severe infantile-onset form, that damage can begin before a baby is born.
Two pregnancies have shown how much sooner it can be found.
In case data presented by Identifai Genetics, which is preparing to list on the ASX under the code ID1, both affected pregnancies were identified by analysing the mother’s blood, one at 10 weeks and the other at 12 weeks. Both results were confirmed by chorionic villus sampling (CVS), an established invasive diagnostic test.
“It’s all about timing, as early as possible,” said Identifai chief executive Eyal Miller. “We raise a flag early in the pregnancy, providing the couples and the clinicians sufficient amount of time to assess the situation.”
That timing matters. Enzyme replacement therapy for Pompe disease is already approved, and early knowledge gives families and doctors time for counselling, delivery planning and having treatment ready from the first days of life. Researchers are also investigating giving the therapy in the womb.
The test, called Windrose, works because a pregnant woman’s bloodstream carries tiny fragments of her baby’s DNA. From nine weeks of pregnancy, Identifai’s machine-learning algorithms identifies which fragments are likely to come from the baby and search for disease-causing mutations across the baby’s genome.
Existing non-invasive prenatal tests largely focus on chromosomal conditions such as Down syndrome. Single-gene disorders like Pompe are harder to detect, partly because healthy parents can unknowingly carry a faulty copy of the gene.
The technology was developed at Tel Aviv University by Professor Noam Shomron and Dr Tom Rabinowitz and licensed to the company in 2021.
A 2025 review in The American Journal of Human Genetics identified 296 genes where a fetal finding could change care, 54 of them treatable in the womb. The authors noted that many disorders covered by newborn screening can cause serious harm before results arrive at five to seven days of life.
Identifai plans a staged US release of Windrose from November, with fetal screening for recessive disorders slated for January 2027, alongside a planned 600-patient US clinical validation study.
For conditions where every week counts, the most valuable thing a test can offer is time.
