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Infertility and Risk of Congenital Anomalies: A Population-Based Cohort Study
Bailey Milne1, Susan B Brogly2,3, Jonas Shellenberger3
1Department of Public Health Sciences, Queen's University, Kingston, Ontario, Canada.
Paediatric and Perinatal Epidemiology
|August 5, 2026
Summary
Infertility, even without treatment, is linked to a slightly higher risk of congenital anomalies in newborns. This study highlights the importance of considering infertility itself as a risk factor for birth defects.
Area of Science:
- Reproductive Health
- Obstetrics
- Pediatrics
Background:
- Fertility treatments are known to increase the risk of congenital anomalies.
- Previous studies often confound fertility treatment effects with underlying infertility.
- Confounding by indication may overestimate risks associated with fertility treatments.
Purpose of the Study:
- To isolate and quantify the association between infertility and congenital anomalies, independent of fertility treatment.
- To determine if infertility itself is a risk factor for birth defects.
Main Methods:
- Population-based cohort study in Ontario, Canada (2006-2021) including over 1.4 million births.
- Infertility without treatment defined by physician consultations within 2 years prior to conception.
- Modified Poisson regression used to calculate adjusted relative risks (RR) for congenital anomalies.
Main Results:
- A small increased risk of any congenital anomaly was observed in births to women with infertility (RR 1.12).
- Elevated risks were noted for eye anomalies (RR 1.22) and ear, face, and neck anomalies (RR 1.19).
- The highest relative risk was for other penile malformations (RR 1.41).
Conclusions:
- Infants born to women with infertility, even without treatment, have a slightly elevated risk of congenital anomalies.
- Specific organ system and individual anomalies show increased risks.
- Infertility, independent of treatment, is a contributing factor to congenital anomaly risk.
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