Endometriosis Raises Risk of Birth Defects

Canadian Medical Association Journal

For babies born to people with endometriosis, there is a small but significant increased risk of congenital anomalies, often called birth defects, according to new research in CMAJ (Canadian Medical Association Journal) https://www.cmaj.ca/lookup/doi/10.1503/cmaj.250439 .

Endometriosis is an often-painful chronic inflammatory condition where endometrial-like tissue grows outside the uterus. It affects 1 in 10 females of reproductive age and can affect fertility.

The study included data from ICES on more than 1.4 million births in Ontario, of which 33 619 were infants of patients with endometriosis. A total of 2120 (6.3%) infants with any type of congenital anomaly were born to a patient with endometriosis compared with 77 094 (5.4%) born to people without the condition.

Endometriosis was associated with an increased risk of cardiovascular, gastrointestinal, genital, and musculoskeletal anomalies as well as neoplasms and tumours, which could be only partially attributed to fertility treatment.

The authors note that the risk is still small.

"Although we observed modest relative increases in risk, the absolute risk of congenital anomalies for infants born to patients with endometriosis remained low, because congenital anomalies are uncommon," writes Bailey Milne, Queen's University, Kingston, Ontario, with coauthors.

A practice article https://www.cmaj.ca/lookup/doi/10.1503/cmaj.241889 published in the same issue of CMAJ describes a patient with chronic endometriosis that caused severe organ damage.

"These articles underscore the imperative for timely diagnosis, effective treatment, and greater awareness of endometriosis because of its potentially serious sequelae," write Drs. Olga Bougie, associate professor in the Department of Obstetrics and Gynaecology, University of Toronto, and Catherine Varner, CMAJ deputy editor, in a related editorial https://www.cmaj.ca/lookup/doi/10.1503/cmaj.260662 . "However, endometriosis remains misunderstood, underrecognized, and undertreated in Canada."

The editorial calls for a community-of-practice model for endometriosis care, with support for primary care physicians to diagnose and manage uncomplicated cases.

"Addressing these challenges requires a fundamental shift toward coordinated, evidence-based, and patient-centred care," the authors write.

For clinical guidance on endometriosis, CMAJ published a review article, Diagnosis and management of endometriosis , in 2023.

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