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Congenital rubella syndrome

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Congenital rubella syndrome
White pupils due to congenital cataracts in a child with congenital rubella syndrome
SpecialtyTeratology

Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects.[1] The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems.[2]

Rubella infection in pregnancy can result in various outcomes ranging from asymptomatic infection to congenital defects to miscarriage and fetal death.[3][4] If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected.[1] If the infection occurs 12–20 weeks after conception, the risk is 20%. Infants are not generally affected if rubella is contracted during the third trimester.[3] Diagnosis of congenital rubella syndrome is made through a series of clinical and laboratory findings and management is based on the infant's clinical presentation. Maintaining rubella outbreak control via vaccination is essential in preventing congenital rubella infection and congenital rubella syndrome.[3]

Congenital rubella syndrome was discovered in 1941 by Australian Norman McAlister Gregg.[5]

Signs and symptoms

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Infant with skin lesions from congenital rubella
"Salt-and-pepper" retinopathy is characteristic of congenital rubella.[6][7]

The classic triad for congenital rubella syndrome is:[8]

Other manifestations of CRS may include:

Children who have been exposed to rubella in the womb should also be watched closely as they age for any indication of:

Diagnosis

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Congenital rubella serology timeline

Diagnosis of congenital rubella syndrome is made based on clinical findings and laboratory criteria.[3] Laboratory criteria includes at least one of the following:

  • Detection of the rubella virus via RT-PCR[19]
  • Detection of rubella-specific IgM antibody[19]
  • Detection of infant rubella-specific IgG antibody[19] at higher levels (and persists for a longer time) than expected for passive maternal transmission
  • Isolation of the rubella virus by nasal, blood, throat, urine, or cerebrospinal fluid specimens

Clinical definition is characterized by findings in the following categories:

  1. Cataracts/congenital glaucoma, congenital heart disease (most commonly, patent ductus arteriosus or peripheral pulmonary artery stenosis), hearing impairment, pigmentary retinopathy
  2. Purpura, hepatosplenomegaly, jaundice, microcephaly, developmental delay, meningoencephalitis, radiolucent bone disease

A patient is classified into the following cases depending on their clinical and laboratory findings:[3]

  • Suspected: A patient that has one or more of the clinical findings listed above but does not meet the definition for probable or confirmed classification
  • Probable: A patient that does not have laboratory confirmation of congenital rubella but has either two clinical findings from Group 1 as listed above OR one clinical finding from Group 1 and one clinical finding from Group 2 as listed above
  • Confirmed: A patient with at least one laboratory finding and one clinical finding (from either group) as listed above
  • Infection only: A patient with no clinical findings as described above but meeting at least one confirmed laboratory criteria

Prevention

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Vaccinating the majority of the population is effective at preventing congenital rubella syndrome.[25] With the introduction of the rubella vaccine in 1969, the number of cases of rubella in the United States has decreased 99%, from 57,686 cases in 1969 to 271 cases in 1999.[3] For women who plan to become pregnant, the MMR (measles mumps, rubella) vaccination is highly recommended, at least 28 days prior to conception.[17] The vaccine should not be given to women who are already pregnant as it contains live viral particles.[17] Other preventative actions can include the screening and vaccinations of high-risk personnel, such as medical and child care professions.[26]

Infants with birth defects suspected to be caused by congenital rubella infection should be investigated thoroughly. Confirmed cases should be reported to the local or state health department to assess control of the virus and isolation of the infant should be maintained.[27]

Management

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Infants with known rubella exposure during pregnancy or those with a confirmed or suspected infection should receive close follow-up and supportive care. There are no medications or antivirals that will shorten the clinical course of the virus.[4] Only those with immunity to rubella should have contact with infected infants, as they can shed viral particles in their respiratory secretions though 1 year of age (unless they test with repeated negative viral cultures at age 3 months).[3] Many infants can be born with multiple birth defects that require multidisciplinary management and interventions based on clinical manifestations. Often these infants will require extended period or life-long follow up with medical specialists. Early diagnosis of congenital rubella syndrome is important for planning future medical care and educational placement.[19]

Auditory Care

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Many infants with CRS may be born with sensorineural deafness and thus should undergo a newborn hearing evaluation. Hearing loss may not be apparent at birth and thus requires close auditory follow up. Infants with confirmed hearing impairment may require hearing aids and may benefit from an early intervention program.[4]

Ophthalmologic Care

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Eye abnormalities including cataracts, infantile glaucoma and retinopathy are common in infants born with CRS.[27] Infants should undergo eye examinations after birth and during early childhood. Those with congenital eye defects require care from a pediatric ophthalmologist for specialized care and follow up.[4]

Cardiac Care

[edit]

Congenital cardiac anomalies including pulmonary artery stenosis and patent ductus arteriosus can be seen in infants with CRS. Infants should undergo cardiac evaluation soon after birth and those with confirmed cardiac lesions will require specialized care with a pediatric cardiologist for any interventions and follow-up care.[4]

See also

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  • Jay Horwitz (born 1945), New York Mets executive born with the syndrome

References

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  1. ^ a b Vesikari, Timo; Usonis, Vytautas (2021). "9. Measles-Mumps-Rubella vaccine". In Vesikari, Timo; Damme, Pierre Van (eds.). Pediatric Vaccines and Vaccinations: A European Textbook (Second ed.). Switzerland: Springer. pp. 82–83. ISBN 978-3-030-77172-0.
  2. ^ a b Rochester, Caitlin K.; Adams, Daniel J. (2022). "12. Rubella". In Jong, Elaine C.; Stevens, Dennis L. (eds.). Netter's Infectious Diseases (2nd ed.). Philadelphia: Elsevier. p. 53. ISBN 978-0-323-71159-3.
  3. ^ a b c d e f g "Control and prevention of rubella: evaluation and management of suspected outbreaks, rubella in pregnant women, and surveillance for congenital rubella syndrome". MMWR. Recommendations and Reports. 50 (RR-12): 1–23. 2001-07-13. ISSN 1057-5987. PMID 11475328.
  4. ^ a b c d e Arrieta, Antonio C. "Congenital rubella". www.uptodate.com. Retrieved 2023-02-09.
  5. ^ Atkinson, William (2011). Epidemiology and Prevention of Vaccine-Preventable Diseases (12th ed.). Public Health Foundation. pp. 301–323. ISBN 9780983263135. Retrieved 30 March 2015.
  6. ^ Sudharshan S, Ganesh SK, Biswas J (2010). "Current approach in the diagnosis and management of posterior uveitis". Indian J Ophthalmol. 58 (1): 29–43. doi:10.4103/0301-4738.58470. ISSN 0301-4738. PMC 2841371. PMID 20029144.
  7. ^ Khurana, Rahul N.; Sadda, Srinivas R. (3 Aug 2006). "Salt-and-Pepper Retinopathy of Rubella". N Engl J Med. 355 (5): 499. doi:10.1056/NEJMicm040780. PMID 16885553.
  8. ^ "Congenital rubella syndrome | Sense". www.sense.org.uk. Retrieved 2015-07-30.
  9. ^ a b c d Zimmerman, LA; Reef, SE (2022). "Rubella (German Measles)". In Loscalzo, Joseph; Fauci, A; Kasper, D; Hauser, S; Longo, D; Jameson, J (eds.). Harrison's Principles of Internal Medicine (21st ed.). McGraw-Hill Education.
  10. ^ a b "Pregnancy and Rubella". Centers for Disease Control and Prevention. Atlanta, Georgia. 2024. Retrieved January 28, 2024.
  11. ^ a b c d e f Winter, Amy K.; Moss, William J. (2022-04-02). "Rubella". Lancet. 399 (10332): 1336–1346. doi:10.1016/S0140-6736(21)02691-X. ISSN 1474-547X. PMID 35367004. S2CID 247846943.
  12. ^ Duszak, Robert S. (January 2009). "Congenital rubella syndrome--major review". Optometry (St. Louis, Mo.). 80 (1): 36–43. doi:10.1016/j.optm.2008.03.006. ISSN 1558-1527. PMID 19111256.
  13. ^ Kumar Panda, Prateek (2019). "Diabetic ketoacidosis in a child with congenital rubella syndrome: A case report and review of literature". Diabetes & Metabolic Syndrome. 13 (4): 2473–2475. doi:10.1016/j.dsx.2019.06.026. ISSN 1878-0334. PMID 31405663. S2CID 198296894.
  14. ^ a b Shukla, Samarth; Maraqa, Nizar F. (2024), "Congenital Rubella", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29939656, retrieved 2024-01-28
  15. ^ Oster ME, Riehle-Colarusso T, Correa A (January 2010). "An update on cardiovascular malformations in congenital rubella syndrome". Birth Defects Research Part A: Clinical and Molecular Teratology. 88 (1): 1–8. doi:10.1002/bdra.20621. PMID 19697432.
  16. ^ Das, Pratyush Kumar; Kielian, Margaret (2021-04-26). "Molecular and Structural Insights into the Life Cycle of Rubella Virus". Journal of Virology. 95 (10): e02349–20, JVI.02349–20. doi:10.1128/JVI.02349-20. ISSN 1098-5514. PMC 8139664. PMID 33627388.
  17. ^ a b c d e "Congenital Rubella Symptoms & Causes | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2019-03-05.
  18. ^ a b c d e Mawson, Anthony R.; Croft, Ashley M. (2019-09-22). "Rubella Virus Infection, the Congenital Rubella Syndrome, and the Link to Autism". International Journal of Environmental Research and Public Health. 16 (19): 3543. doi:10.3390/ijerph16193543. ISSN 1660-4601. PMC 6801530. PMID 31546693.
  19. ^ a b c d e Leung, A. K. C.; Hon, K. L.; Leong, K. F. (April 2019). "Rubella (German measles) revisited". Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi. 25 (2): 134–141. doi:10.12809/hkmj187785. ISSN 1024-2708. PMID 30967519.
  20. ^ Muhle, R; Trentacoste, SV; Rapin, I (May 2004). "The genetics of autism". Pediatrics. 113 (5): e472–86. doi:10.1542/peds.113.5.e472. PMID 15121991. S2CID 6077170.
  21. ^ Brown, A. S (9 February 2006). "Prenatal Infection as a Risk Factor for Schizophrenia". Schizophrenia Bulletin. 32 (2): 200–202. doi:10.1093/schbul/sbj052. PMC 2632220. PMID 16469941.
  22. ^ Naeye, Richard L. (1965-12-20). "Pathogenesis of congenital rubella". JAMA. 194 (12): 1277–1283. doi:10.1001/jama.1965.03090250011002. ISSN 0098-7484. PMID 5898080.
  23. ^ a b Terracciano, E; Amadori, F; Pettinicchio, V; Zaratti, L; Franco, E (2020-04-02). "Strategies for elimination of rubella in pregnancy and of congenital rubella syndrome in high and upper-middle income countries". J Prev Med Hyg. 61 (1): E98 – E108. PMC 7225652. PMID 32490275.
  24. ^ Forrest, Jill M.; Menser, Margaret A.; Burgess, J. A. (1971-08-14). "High Frequency of Diabetes Mellitus in Young Adults with Congenital Rubella". The Lancet. 298 (7720): 332–334. doi:10.1016/S0140-6736(71)90057-2. PMID 4105044.
  25. ^ "Rubella vaccines: WHO position paper" (PDF). Wkly Epidemiol Rec. 86 (29): 301–16. 15 July 2011. PMID 21766537.
  26. ^ "Congenital Rubella - Pediatrics". Merck Manuals Professional Edition. Retrieved 2019-03-05.
  27. ^ a b "Rubella", Red Book (2021), American Academy of Pediatrics, pp. 648–655, 2021-05-17, doi:10.1542/9781610025225-part03-ch120, ISBN 978-1-61002-522-5, retrieved 2023-02-09
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