Updated: 12/28/2021

Congenital Rubella Syndrome

Review Topic
  • Snapshot
    • A 25-year-old woman gave birth to a boy, who is noted to be small for gestational age. She did not have consistent prenatal care and had only 1 obstetrician appointment prior to giving birth. She has a history of drug use and multiple sexual partners. She does not know if she had received her childhood vaccinations. The boy is noted to have multiple violaceous macules on his skin, resembling a “blueberry muffin.” He also has cataracts and a continuous machine-like murmur on cardiac exam.
  • Introduction
    • Classification
      • rubella virus
        • an enveloped, icosahedral capsid, single-stranded, positive-sense RNA virus
        • a togavirus
        • causes rubella (German (3-day) measles)
        • transmission via placenta
    • Prevention
      • measles, mumps, and rubella (MMR) vaccine before pregnancy, or resolved maternal infection before pregnancy
        • given over 2 doses
      • serologic screening for rubella immunoglobulin G in pregnant women if not immune
  • Epidemiology
    • Incidence
      • decreased in the US due to vaccination
      • endemic in parts of Europe, Africa, and Asia
    • Demographics
      • occurs in neonates
    • Risk factors
      • lack of vaccination
      • travel to endemic areas
    • Pathogenesis
      • congenital rubella syndrome is most likely to occur if infection occurs at < 16 weeks of gestation
      • vertical transmission from mother to fetus through placenta
    • Associated conditions
      • rubella
        • maculopapular rash
        • lymphadenopathy (especially postauricular)
        • polyarthritis
        • polyarthrlagia
      • autoimmune diseases
        • thyroid disease
  • Presentation
    • Symptoms
      • may result in miscarriage or fetal death in mothers
      • in neonates
        • sensorineural hearing loss
        • congenital heart disease
          • patent ductus arteriosus
          • pulmonary artery stenosis
          • septal defects
    • Physical exam
      • in neonates
        • blueberry muffin rash
          • discrete violaceous macules
          • purpura or petechiae
          • from dermal extramedullary hematopoiesis
        • cataracts or glaucoma
        • low birth weight
        • murmur on cardiac exam
        • hepatomegaly
  • Imaging
    • Fetal ultrasound
      • indication
        • routine pregnancy ultrasounds
      • findings
        • cardiac abnormalities
        • splenomegaly
        • microcephaly
        • intrauterine growth retardation
  • Studies
    • Labs
      • rubella-specific immunoglobulin M in fetal blood or amniotic fluid
  • Differential
    • Congenital toxoplasmosis
      • distinguishing factors
        • also presents with blueberry muffin rash, but toxoplasmosis presents with intracranial calcifications, hydrocephalus, and chorioretinitis
    • Making the diagnosis
      • based on clinical presentation and confirmed with laboratory studies
  • Treatment
    • Management approach
      • mainstay of treatment is supportive care
      • vaccinations are indicated before pregnancy
        • may vaccinate patient if serologic titers are negative but patient must wait at least 4 weeks until trying to get pregnant
        • do not give vaccine during pregnancy
      • mothers may consider termination of pregnancy if detected early
  • Complications
    • Blindness
    • Cardiac arrhythmias
    • Death
  • Prognosis
    • Poor prognosis in infancy

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