Embryopathy

Embryopathy is a medical term used to describe congenital anomalies that originate during embryonic development, typically during the first eight weeks of gestation when organs and structures are formed. It is a broad, non-specific concept that encompasses malformations caused by genetic mutations as well as disruptions from environmental factors occurring during organogenesis.

Causes of embryopathy are diverse and can include genetic syndromes and chromosomal abnormalities; teratogenic exposures such as certain medications (for example isotretinoin, thalidomide, some anticonvulsants like valproic acid), alcohol, and illicit drugs; maternal infections (rubella, cytomegalovirus, toxoplasmosis, syphilis, Zika virus); metabolic disorders (uncontrolled diabetes, phenylketonuria); nutritional deficiencies (folate deficiency); radiation; and vascular disruptions during development.

Clinical presentation is highly variable and may include limb abnormalities, craniofacial defects, neural tube defects, heart malformations, and growth restriction. Some embryopathies exhibit recognizable patterns such as limb reduction defects or craniofacial syndromes, but many result in nonspecific multisystem anomalies.

Diagnosis relies on prenatal imaging and testing when available (ultrasound, fetal MRI) and postnatal clinical assessment, along with genetic testing to identify underlying etiologies. Counseling focuses on prognosis and recurrence risk, which depend on the cause. Prevention centers on avoiding teratogenic exposures, maintaining maternal health, disease screening and management, vaccination against infections, and folate supplementation prior to and during early pregnancy.