Blood Test Detects Rare Pompe Disease as Early as 10 Weeks if Pregnancy

Sydney, Australia — A single blood sample from a pregnant woman has detected rare inherited Pompe disease as early as 10 weeks of pregnancy, offering families and doctors more time to plan treatment before birth.

The cases were identified by Identifai Genetics, which is preparing to list on the Australian Securities Exchange under the code ID1.

The company said two pregnancies affected by Pompe disease were detected through analysis of maternal blood at 10 and 12 weeks, with both results later confirmed through chorionic villus sampling (CVS).

Pompe disease is a rare inherited disorder caused by a deficiency of the enzyme acid alpha-glucosidase. The deficiency causes glycogen to accumulate and progressively damage the heart and skeletal muscles.

In its severe infantile-onset form, the damage can begin before birth, meaning early detection could have significant implications for treatment and care.

"It's all about timing, as early as possible," Identifai Chief Executive, Eyal Miller said.

"We raise a flag early in the pregnancy, providing the couples and the clinicians sufficient amount of time to assess the situation," said Miller.

The company's Windrose test analyses fragments of fetal DNA circulating in the mother's bloodstream.

From about nine weeks of pregnancy, Identifai said its machine-learning technology identifies DNA fragments likely to have originated from the fetus and searches across the fetal genome for disease-causing mutations.

Unlike conventional non-invasive prenatal testing, which largely screens for chromosomal conditions such as Down syndrome, Windrose is designed to identify single-gene disorders, including conditions that parents may unknowingly carry.

The company said early detection could give families and clinicians more time for genetic counselling, delivery planning and preparation for treatment immediately after birth.

Enzyme replacement therapy for Pompe disease is already approved, while researchers are also investigating whether treatment can be administered before birth.

The technology was developed at Tel Aviv University by Professor Noam Shomron and Dr. Tom Rabinowitz, before being licensed to Identifai in 2021.

A 2025 review published in The American Journal of Human Genetics identified 296 genes for which a fetal diagnosis could potentially change clinical care.

Of these, 54 were linked to conditions considered potentially treatable in the womb.

The review also noted that some disorders currently covered by newborn screening can cause serious harm before results become available, typically five to seven days after birth.

Identifai plans to begin a staged US release of Windrose in November, with fetal screening for recessive disorders expected to start in January 2027.

The company also plans a 600-patient United States clinical validation study as it works to expand the technology's use in prenatal screening.

For families facing inherited conditions in which treatment timing can influence outcomes, earlier detection could provide something often lost in prenatal diagnosis: valuable time.