Antenatal imaging of retinoic acid embryofetopathy: A case report and review of literature

Isotretinoin is a derivative of vitamin A that has been implicated in the occurrence of fetal abnormalities since the 1980s. The reported abnormalities involve the heart, face, and central nervous system. All of the described malformations have been identified postnatally. This case describes prenatal imaging of an embryofetopathy. The patient was a 29-year-old primigravida. She had a history of acne treated with isotretinoin. After missing 3 contraceptives pills, she experienced amenorrhea. An ultrasound performed at 22 weeks of gestation revealed cerebellar vermis agenesis, thymus aplasia, agenesis of pulmonary valves, and ear abnormalities. This is the first time that pulmonary valve agenesis has been described within the spectrum of isotretinoin-related malformations. Pulmonary agenesis was the only conotruncal heart defect not yet described in isotretinoin embryopathy. From this observation, we can recommend an investigation of isotretinoin exposure in any case of conotruncal heart defect without 22q11 deletion.