Blood Test Breakthrough Enables Earlier, Less Invasive Endometriosis Detection

Despite its prevalence and severity, diagnosis can take an average of eight to 10 years for adults and up to 14 years for adolescents. Laparoscopy remains the gold standard for diagnosis of endometriosis, but it is a surgical and therefore invasive approach. Researchers have now identified blood-based molecular biomarkers that may support earlier, noninvasive detection in adolescents and young adults. 

The diagnostic approach developed by researchers at Yale School of Medicine (YSM; New Haven, CT, USA) centers on molecular biomarkers in blood, specifically small RNA molecules called microRNAs. MicroRNAs are present in every tissue and as regulators of gene expression, with disease-associated changes reflected in their activity. Prior Yale-led work identified circulating microRNAs that can be used to detect endometriosis noninvasively in adults. The latest study extends this concept to younger patients by describing a new microRNA signature associated with earlier stages of disease.

The study evaluated 51 adolescents and young adults ages 13 to 26 with pelvic pain who were scheduled for gynecologic surgery between 2019 and 2024. Blood samples were collected before surgery, and the surgeries confirmed endometriosis in 31 patients. Comparing blood from those with and without confirmed disease identified differences in microRNA expression reported as unique to early-stage endometriosis.

In a larger trial of 100 patients with an average age in the mid-30s, the researchers showed that these biomarkers could accurately detect endometriosis using a noninvasive blood test. The researchers stated that validation in distinct cohorts is needed before a blood test could become commercially available. The findings were published in Reproductive Biology and Endocrinology on January 15, 2026.

“We need to diagnose the disease much earlier, because endometriosis often doesn’t start when a person is 25. We have hard data that it commonly starts in adolescence, shortly after the first period” said lead author Alla Vash-Margita, MD, associate professor of obstetrics, gynecology, and reproductive science at YSM.  “Through future trials, we can and will develop a clinical diagnostic test that can be used for early diagnosis of endometriosis, so people don’t have to undergo major surgery,” added Vash-Margita.

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