Coxsackievirus intrauterine infection has been documented mostly on the basis of indirect evidence of transplacental transmission, with neonatal manifestations ranging from asymptomatic infection to meningoencephalitis, myocarditis, and generalized sepsis. This is the first report of prenatal findings and fetoplacental pathology in a third trimester fetus with coxsackie B3 transplacental infection confirmed by molecular techniques. Prenatal ultrasound detected severe reduction of fetal movements at the 27th week. Late onset fetal akinesia deformation sequence with mild arthrogryposis, necrotic meningoencephalitis with vascular calcifications, interstitial pneumonitis, mild myocardial hypertrophy, and chronic monocytic placental villitis were the cardinal findings at fetal autopsy following interruption of the pregnancy.

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Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases.

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