Congenital rubella syndrome

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Medical condition

Congenital rubella syndrome

White pupils due to congenital cataracts in a child with congenital rubella syndrome
Specialty| Teratology

Congenital rubella syndrome (CRS) occurs when an unborn baby 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[edit]

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]

* Sensorineural deafness (58% of patients)
* Eye abnormalities—especially retinopathy, cataract, glaucoma, and microphthalmia (43% of patients)
* Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus (50% of patients)[9]

Other manifestations of CRS may include:

* Spleen, liver, or bone marrow problems (some of which may disappear shortly after birth)
* Intellectual disability
* Small head size (microcephaly)
* Low birth weight[10]
* Thrombocytopenic purpura, leading to easy or excessive bleeding or bruising
* Extramedullary hematopoiesis (presents as a characteristic blueberry muffin rash)[2]
* Enlarged liver (hepatomegaly)
* Small jaw size (micrognathia)
* Skin lesions [10]

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

* Developmental delay[10]
* Autism[11]
* Schizophrenia[12]
* Growth retardation[13]
* Learning disabilities
* Diabetes mellitus[14]

## Diagnosis[edit]

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
* Detection of rubella-specific IgM antibody
* Detection of infant rubella-specific IgG antibody 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[edit]

Vaccinating the majority of the population is effective at preventing congenital rubella syndrome.[15] 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.[10] The vaccine should not be given to women who are already pregnant as it contains live viral particles.[10] Other preventative actions can include the screening and vaccinations of high-risk personnel, such as medical and child care professions.[16]

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.[17]

## Management[edit]

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.

### Auditory Care[edit]

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[edit]

Eye abnormalities including cataracts, infantile glaucoma and retinopathy are common in infants born with CRS.[17] 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]

## References[edit]

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. ^ 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.
10. ^ a b c d e "Congenital Rubella Symptoms & Causes | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2019-03-05.
11. ^ 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.
12. ^ 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.
13. ^ 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.
14. ^ 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.
15. ^ "Rubella vaccines: WHO position paper" (PDF). Wkly Epidemiol Rec. 86 (29): 301–16. 15 July 2011. PMID 21766537.
16. ^ "Congenital Rubella - Pediatrics". Merck Manuals Professional Edition. Retrieved 2019-03-05.
17. ^ 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

Classification|

* ICD-10: P35.0
* ICD-9-CM: 771.0
* MeSH: D012410
* DiseasesDB: 11729

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External resources|

* MedlinePlus: 001658
* eMedicine: emerg/388

* v
* t
* e

Skin infections, symptoms and signs related to viruses

| DNA virus|

| Herpesviridae|

| Alpha.|

| HSV|

* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Genital herpes
* Cold sore
* Eczema herpeticum
* Herpetiform esophagitis
* Herpetic gingivostomatitis

|

B virus|

* B virus infection

VZV|

* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome

Beta.|

* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease

Gamma.|

* Kaposi's sarcoma-associated herpesvirus
* Kaposi's sarcoma

Poxviridae|

| Ortho.|

* Variola
* Smallpox
* Alastrim
* Monkeypox virus
* Monkeypox
* Cowpox
* Vaccinia virus
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox

|

Para.|

* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox

Other|

* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* Molluscum contagiosum virus

Papillomaviridae|

| HPV|

* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares

|

* Bovine papillomavirus
* Equine sarcoid

Parvoviridae|

* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome

Polyomaviridae|

* Merkel cell polyomavirus
* Merkel cell carcinoma

RNA virus|

| Paramyxoviridae|

* MeV
* Measles

|

Matonaviridae|

* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles")

Togaviridae|

* Alphavirus infection
* Chikungunya fever

Picornaviridae|

* Coxsackie A virus
* Hand, foot, and mouth disease
* Herpangina
* Foot-and-mouth disease virus
* Boston exanthem disease

Ungrouped|

* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome

* v
* t
* e

Conditions originating in the perinatal period / fetal disease

Maternal factors
complicating pregnancy,
labour or delivery|

| placenta|

* Placenta praevia
* Placental insufficiency
* Twin-to-twin transfusion syndrome

|

chorion/amnion|

* Chorioamnionitis

umbilical cord|

* Umbilical cord prolapse
* Nuchal cord
* Single umbilical artery

presentation|

* Breech birth
* Asynclitism
* Shoulder presentation

Growth|

* Small for gestational age / Large for gestational age
* Preterm birth / Postterm pregnancy
* Intrauterine growth restriction

Birth trauma|

* scalp
* Cephalohematoma
* Chignon
* Caput succedaneum
* Subgaleal hemorrhage
* Brachial plexus injury
* Erb's palsy
* Klumpke paralysis

Affected systems|

| Respiratory|

* Intrauterine hypoxia
* Infant respiratory distress syndrome
* Transient tachypnea of the newborn
* Meconium aspiration syndrome
* Pleural disease
* Pneumothorax
* Pneumomediastinum
* Wilson–Mikity syndrome
* Bronchopulmonary dysplasia

|

Cardiovascular|

* Pneumopericardium
* Persistent fetal circulation

Bleeding and
hematologic disease|

* Vitamin K deficiency bleeding

* HDN
* ABO
* Anti-Kell
* Rh c
* Rh D
* Rh E
* Hydrops fetalis
* Hyperbilirubinemia
* Kernicterus
* Neonatal jaundice

* Velamentous cord insertion
* Intraventricular hemorrhage
* Germinal matrix hemorrhage
* Anemia of prematurity

Gastrointestinal|

* Ileus
* Necrotizing enterocolitis
* Meconium peritonitis

Integument and
thermoregulation|

* Erythema toxicum
* Sclerema neonatorum

Nervous system|

* Perinatal asphyxia
* Periventricular leukomalacia

Musculoskeletal|

* Gray baby syndrome
* muscle tone
* Congenital hypertonia
* Congenital hypotonia

Infections|

* Vertically transmitted infection
* Neonatal infection
* rubella
* herpes simplex
* mycoplasma hominis
* ureaplasma urealyticum
* Omphalitis
* Neonatal sepsis
* Group B streptococcal infection
* Neonatal conjunctivitis

Other|

* Miscarriage
* Perinatal mortality
* Stillbirth
* Infant mortality
* Neonatal withdrawal

* v
* t
* e

Vertically transmitted infections

Gestational|

* Viruses
* Congenital rubella syndrome
* Congenital cytomegalovirus infection
* Neonatal herpes simplex
* Hepatitis B
* Congenital varicella syndrome
* HIV
* Fifth disease
* Bacteria
* Congenital syphilis
* Other
* Toxoplasmosis
* transplacental
* TORCH complex

During birth|

* transcervical
* Candidiasis
* Gonorrhea
* Listeriosis

Late pregnancy|

* Listeriosis
* Congenital cytomegalovirus infection

By breastfeeding|

* Breastfeeding
* Tuberculosis
* HIV

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