Maternal hyperthermia-induced birth defects

Maternal hyperthermia-induced birth defects (also known as maternal hyperthermia embryopathy or hyperthermia-induced embryopathy) is a pattern of congenital anomalies that occurs when a developing embryo or fetus is exposed to abnormally elevated maternal body temperature during critical periods of pregnancy, particularly during the first trimester. Causes of maternal hyperthermia include prolonged high fever (from infections or other illnesses), excessive use of hot tubs, saunas, or other sources of external heat exposure. The condition is classified under ICD-10 code Q86.8 and Orphanet code 2216. The birth defects associated with maternal hyperthermia primarily affect the central nervous system, craniofacial structures, and the cardiovascular system. Key clinical features may include neural tube defects (such as anencephaly and spina bifida), microcephaly, intellectual disability, seizures, hypotonia, midface hypoplasia, micrognathia, cleft lip and/or palate, microphthalmos, limb anomalies, and congenital heart defects. The severity and pattern of malformations depend on the degree and duration of temperature elevation as well as the gestational timing of the exposure. There is no specific cure or targeted treatment for maternal hyperthermia-induced birth defects. Management is supportive and symptomatic, tailored to the individual's specific anomalies. This may include surgical correction of structural defects (such as cardiac or craniofacial anomalies), physical and occupational therapy, seizure management, and developmental support services. Prevention is the most important strategy, and pregnant individuals are advised to avoid prolonged exposure to high temperatures and to promptly treat febrile illnesses, including the use of antipyretics such as acetaminophen under medical guidance.

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