Prenatal Genetic Testing for Intersex Conditions in Canada

Intersex individuals face human rights violations, discrimination, and stigmatization worldwide. Diagnosis in infants is uncommon, with between 1 in 2000 and 1 in 4500 infants born with ambiguous external genitalia sufficient to warrant genetic and endocrine studies. However, estimates of the actual proportion of the population falling under the broader umbrella of intersex, including sexual variation at the chromosomal, gonadal, hormonal, or genital level, are as high as 1.7%. As the rise of non-invasive prenatal screening (NIPS) capable of identifying intersex conditions at the fetal stage has increased the potential for prenatal detection, there is an urgent need for attention to the potential ethical challenges that may arise from earlier and more frequent detection.