Congenital rubella syndrome is a spectrum of congenital abnormalities that result from primary maternal infection with the rubella virus. It falls under the TORCH group of infections.
It is important to note that reinfection/reactivation of maternal infection has a significantly lower risk of fetal anomalies than compared to primary infection.
Rarely congenital rubella syndrome can result in progressive disease known as progressive rubella panencephalitis 8.
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Clinical presentation
Features can include:
congenital sensorineural deafness
congenital cataract formation
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congenital cardiac anomalies: particularly
intellectual/learning disabilities
The first three clinical features were classically termed the Gregg syndrome.
Pathology
The rate of congenital infection is worst during the 1st trimester (particularly during the first 6 weeks).
Serological markers
maternal rubella specific IgG
maternal rubella specific IgM
False positive results of IgM antibodies are common. It must be followed with IgG avidity testing to ensure if the infection is recent or not 7.
Radiographic features
Ultrasound
Sonographic findings are often not specific and a normal scan cannot absolutely exclude an infection. Features that may be seen include
evidence of hydrops fetalis if severe
evidence of a congenital cardiac anomaly (e.g. ASD and VSD) 8
evidence of intra-uterine growth restriction
sub-ependymal cysts: on cranial ultrasound 2
CT
Brain manifestations 8:
small head circumference/microcephaly
periventricular calcifications
white matter hypodensity
ventriculomegaly