Noninvasive Blood-Based Detection of Endometriosis Prior to Surgical Laparoscopy Among Symptomatic Women: Is There a Benefit?

Study Objective

To demonstrate efficacy in performing noninvasive blood-based testing to confirm the presence or absence of endometriosis among women considering laparoscopy with symptoms of pelvic pain and/or abnormal menstrual bleeding.

Design

This is a case-control, observational, prospective study designed to demonstrate the concordance between a noninvasive blood-based diagnostic approach for detecting endometriosis as compared to gold standard laparoscopy with histology.

Setting

Under IRB consent, 10ml peripheral blood was drawn from symptomatic women prior to scheduled laparoscopy. Blood samples were processed to separate serum for RNA isolation, cDNA preparation followed by analysis by qPCR and a bioinformatic AI model that was developed using machine learning to predict presence or absence of endometriosis. Concordance between histology and the miRNA blood test was determined.

Patients or Participants

215 women with symptoms of pelvic pain and/or abnormal menstrual bleeding and undergo laparoscopy were enrolled. Subjects had no previous history of endometriosis.

Interventions

Not applicable.

Measurements and Primary Results

An overall 91% concordance between the invasive gold standard procedure and the noninvasive blood-based miRNA test was observed with 95% specificity. Results were is independent of disease stage, type of endometriosis and the presence of other gynecologic conditions, such as uterine fibroids and leiomyomas. Among cases found to be discordant between visual laparoscopy and histology, miRNA results were more consistent with histology outcome.

Conclusion

Using circulating serum miRNAs as a diagnostic to confirm the presence or absence of endometriosis offers several advantages over conventional diagnostic. Currently, the gold standard for endometriosis diagnosis relies on laparoscopy for direct visualization, an invasive surgical procedure that poses risk to the subject. A noninvasive blood-based miRNA test can inform and aid the surgical team in preparing for potentially difficult cases where the need to search for lesions may justified. This may be particularly valuable for early detection and for patients who may not have immediate access to specialized surgical evaluation.