Infectious embryofetopathy

Infectious embryofetopathy refers to a group of congenital conditions caused by maternal infections transmitted to the developing embryo or fetus during pregnancy. These infections can occur at various stages of gestation and may lead to a wide spectrum of structural malformations, organ damage, and functional impairments depending on the timing of infection and the causative pathogen. The term encompasses damage caused by well-known teratogenic infectious agents including, but not limited to, rubella virus, cytomegalovirus (CMV), Toxoplasma gondii, herpes simplex virus, varicella-zoster virus, Zika virus, and Treponema pallidum (syphilis) — historically grouped under the acronym TORCH infections. The body systems most commonly affected include the central nervous system (microcephaly, intracranial calcifications, intellectual disability, sensorineural hearing loss), the eyes (chorioretinitis, cataracts, microphthalmos), the cardiovascular system (congenital heart defects), and the liver and spleen (hepatosplenomegaly, jaundice). Growth restriction, thrombocytopenia with petechiae, and skeletal abnormalities may also be present. The severity of the embryofetopathy depends on the gestational age at the time of infection, with first-trimester infections generally causing the most severe structural malformations. Treatment is largely supportive and depends on the specific organ systems involved. Some infections, such as congenital toxoplasmosis and congenital syphilis, can be treated with antimicrobial therapy during pregnancy or in the neonatal period to reduce disease severity. Antiviral agents (e.g., ganciclovir for symptomatic congenital CMV) may be used in select cases. Prevention through maternal vaccination (e.g., rubella, varicella), screening programs, and hygiene measures remains the most effective strategy. Long-term multidisciplinary follow-up involving neurology, ophthalmology, audiology, and developmental specialists is typically required.

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