A prenatal blood test has identified a rare inherited disease in two pregnancies during the first trimester, according to case data released by genetics company Identifai.
The findings point to the potential for earlier screening to give families and doctors more time for counselling, specialist assessment and treatment planning.
Identifai said its Windrose test detected pregnancies affected by Pompe disease at 10 and 12 weeks. Both results were subsequently confirmed by chorionic villus sampling, or CVS, an established invasive diagnostic procedure.
Pompe disease occurs when the body lacks sufficient acid alpha-glucosidase, an enzyme needed to break down glycogen within cells. The resulting build-up can damage muscles and, in the severe infantile form, the heart.
Identifai chief executive Eyal Miller said the aim was to provide information early enough for families and clinicians to consider their options.
“It's all about timing, as early as possible,” he said.
“We raise a flag early in the pregnancy, providing the couples and the clinicians sufficient amount of time to assess the situation.”
According to the company, Windrose can be used from nine weeks of pregnancy. It analyses fragments of DNA circulating in the pregnant woman’s blood, using genetic analysis and machine-learning technology to screen for inherited disorders.
The company says its approach extends beyond the chromosomal conditions commonly assessed by existing non-invasive prenatal screening, to examine conditions caused by changes in individual genes.
Pompe disease can be inherited from parents who carry a disease-causing genetic variant without showing symptoms themselves.
Earlier identification could allow specialist teams to plan care before birth and prepare for treatment soon afterwards. Enzyme replacement therapy is available for Pompe disease, and early treatment can improve outcomes.
Researchers have also investigated treatment before birth. A published case report described prenatal enzyme replacement therapy for a fetus with severe infantile-onset Pompe disease, although this remains a developing area of specialist research.
Identifai said the technology was developed at Tel Aviv University by Professor Noam Shomron and Dr Tom Rabinowitz and licensed to the company in 2021.
The company has outlined plans for a staged United States release from November 2026, with screening for recessive disorders planned for January 2027, alongside a proposed 600-patient clinical validation study.
The two reported pregnancies provide early case evidence, rather than establishing how accurately the test performs across a wider population. Both required diagnostic confirmation.
The supplied announcement did not specify Australian availability, pricing or regulatory status.
For Hawkesbury families, the development highlights the growing possibilities of prenatal screening while reinforcing the importance of understanding the distinction between a screening result and a confirmed diagnosis.
