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Objective: rubella during the early stages of pregnancy can lead to severe birth defects known as congenital rubella syndrome (CRS). Samples collected from pregnant women with symptoms and suspected of congenital rubella infection between 1996 and 2008 were analyzed. Methods: a total of 23 amniotic fluid samples, 16 fetal blood samples, 1 product of conception and 1 placenta were analyzed by serology and RT-PCR. Results: all patients presented positive serology for IgG / IgM antibodies to rubella virus. Among neonates, 16 were IgG-positive, 9 were IgM-positive and 4 were negative for both antibodies. Of the 25 samples analyzed in this study, 24 were positive by RT-PCR. Changes in ultrasound were found in 15 (60%) of 25 fetuses infected with rubella virus. Fetal death and miscarriage were reported in 10 (40%) of the 25 cases analyzed. The rubella virus was amplified by PCR in all fetuses with abnormal ultrasound compatible with rubella. Fetal death and abortion were reported in 10 of 25 cases analyzed. Conclusion: this study, based on primary maternal rubella infection definitely confirms the good sensitivity and specificity of RT-PCR using amniotic fluid and ultrasound. The results showed that molecular assays are important tools in the early diagnosis of rubella and congenital rubella syndrome.

To verify rubella and congenital rubella syndrome (CRS) elimination, countries need to ensure that their surveillance systems are sufficiently sensitive to capture almost all cases. This study aims to estimate the incidence of CRS in Australia and the sensitivity of CRS case ascertainment in the National Notifiable Disease Surveillance System.

Environmental causes of birth defects have increasingly been recognized since the mid-20th century. The teratogenic effects of maternal infections such as rubella and therapeutic drugs such as thalidomide were first reported by alert clinicians. Among clinicians and researchers who have contributed significantly to our knowledge of these environmental causes, Norman Gregg was a Sydney ophthalmologist whose seminal study in 1941 identified maternal rubella as a cause of birth defects. The teratogenic effects of thalidomide were first noted in 1961 by William McBride, a Sydney obstetrician, and independently confirmed by Widukind Lenz, a German pediatrician. Marsh Edwards, an Australian veterinary scientist, showed experimentally that maternal hyperthermia caused birth defects in various animal species. While it is likely that alert individual clinicians or researchers will continue to signal the first clues about new environmental causes of birth defects, especially therapeutic drugs, it is now usually teams of laboratory researchers and epidemiologists who are more likely to provide definitive evidence of these new teratogens.

Very little is known regarding neuroimaging findings in patients with congenital rubella syndrome. We report a 1.9-year-old boy with congenital rubella syndrome who presented in the neonatal period with severe multisystem involvement and diffuse leukoencephalopathy with subcortical anterior temporal cysts, which showed spontaneous improvement during a period of 3 years.

There is growing evidence for the role of rubella virus in Fuchs' uveitis syndrome (FUS). This report is the first to show persistent intraocular rubella virus in a 28-year-old man with congenital rubella syndrome (CRS), who presented with blurred vision and was diagnosed with FUS.

OBJECTIVE: To assess the seroprevalence of immunity to the rubella virus in pregnant women in Haiti attending the Obstetrics and Gynecology Department of the State University Hospital, in the capital city of Port-au-Prince, in order to help with the introduction of the rubella vaccine for the population and provide protection for women of reproductive age in the country. METHODS: This cross-sectional study was done between February 2002 and May 2002. A total of 503 pregnant women were tested for rubella-specific immunoglobulin G antibodies, using enzyme immunoassay; 8 of those women were later excluded because they did not know their age, leaving 495 women in the analysis. RESULTS: Of the 495 participants included in our analysis, 471 of them (95.2%) were seropositive; only 24 of them (4.8%) were seronegative (susceptible). A statistically significant difference (P = 0.02) was found in the rate of seronegativity for rubella virus between the pregnant women living in the Port-au-Prince area (17 of 426 women, or 4.0%) and those living in rural areas (7 of 69 women, or 10.1%). In terms of age, 81 of the 495 (16.4%) women were under 21 years old. CONCLUSIONS: This study is an important first step in addressing the issue of prevalence of rubella virus infection among Haitian women and in dealing with the still-underrecognized public health problem of congenital rubella syndrome in Haiti. We recommend additional research that uses randomized sampling and includes a significant proportion of women from rural areas of the country.OBJETIVO: Determinar la seroprevalencia de la inmunidad al virus de la rubéola en mujeres embarazadas que se atienden al Departamento de Obstetricia y Ginecología del Hospital de la Universidad Estatal, en Puerto Príncipe, capital de Haití, a fin de contribuir a introducir la vacunación de la población contra la rubéola y proteger a las mujeres en edad reproductiva en el país. MÉTODOS: Este estudio transversal se realizó entre febrero y mayo de 2002. Se evaluó la presencia de anticuerpos de tipo IgG específicos contra la rubéola en 503 embarazadas mediante un inmunoensayo enzimático. Posteriormente se excluyó a 8 mujeres debido a que no sabían su edad. RESULTADOS: De las 495 participantes estudiadas, 471 (95,2%) tenían seropositividad; solo 24 de ellas (4,8%) mostraron seronegatividad (susceptibilidad). Se encontraron menos mujeres seronegativas entre las residentes de Puerto Príncipe (17 de 426, 4,0%) que entre las residentes de zonas rurales (7 de 69, 10,1%) (P = 0,02). En relación con la edad, 81 (16,4%) de las 495 mujeres embarazadas estudiadas eran menores de 21 años. CONCLUSIONES: Con este estudio se da el primer paso hacia evaluar la prevalencia de la infección por el virus de la rubéola en mujeres haitianas y hacia el enfrentamiento de un problema de salud que todavía no ha sido reconocido en toda su magnitud: el síndrome de la rubéola congénita en Haití. Se recomienda emprender estudios adicionales con muestreos aleatorios que abarquen una fracción significativa de mujeres provenientes de zonas rurales.

Unusually large fontanelles were found in four skeletons of children from a cemetery in the North West Province of South Africa. These remains date from the last decade of the 19th and first half of the 20th century. Three small infants (two of about nine months, and one of about six months) and one child (of about three years) were affected. In the case of the three-year-old child pathologic changes were evident on the rest of the skeleton, which probably resulted in the delayed closure. The cause of the unusually large fontanelles in the other three individuals is less clear. Some possibilities are discussed, but it seems as though general hardship and malnutrition, congenital syphilis or other infectious diseases like rubella syndrome may be involved. Copyright © 2002 John Wiley & Sons, Ltd.

Objective: rubella during the early stages of pregnancy can lead to severe birth defects known as congenital rubella syndrome (CRS). Samples collected from pregnant women with symptoms and suspected of congenital rubella infection between 1996 and 2008 were analyzed. Methods: a total of 23 amniotic fluid samples, 16 fetal blood samples, 1 product of conception and 1 placenta were analyzed by serology and RT-PCR. Results: all patients presented positive serology for IgG / IgM antibodies to rubella virus. Among neonates, 16 were IgG-positive, 9 were IgM-positive and 4 were negative for both antibodies. Of the 25 samples analyzed in this study, 24 were positive by RT-PCR. Changes in ultrasound were found in 15 (60%) of 25 fetuses infected with rubella virus. Fetal death and miscarriage were reported in 10 (40%) of the 25 cases analyzed. The rubella virus was amplified by PCR in all fetuses with abnormal ultrasound compatible with rubella. Fetal death and abortion were reported in 10 of 25 cases analyzed. Conclusion: this study, based on primary maternal rubella infection definitely confirms the good sensitivity and specificity of RT-PCR using amniotic fluid and ultrasound. The results showed that molecular assays are important tools in the early diagnosis of rubella and congenital rubella syndrome. Objetivo: a rubéola, durante os primeiros estágios da gravidez, pode levar a graves defeitos congênitos, conhecidos como síndrome da rubéola congênita (SRC). Amostras de gestantes com sintomas e suspeitas da rubéola congênita foram coletadas entre 1996 e 2008. Métodos: um total de 23 amostras de fluido amniótico, 16 amostras de sangue fetal, um produto da concepção e uma placenta foram analisados por sorologia e PCR. Resultados: todas as gestantes apresentaram sorologia positiva para IgG/IgM para o vírus da rubéola. Entre os recém-nascidos, 14 apresentaram anticorpos IgG positivos e 11 foram os anticorpos IgM positivos. Das 25 amostras analisadas neste estudo, 24 eram positivas por RT-PCR. Alterações na ultrassonografia foram encontradas em 15 (60%) dos 25 fetos infectados com o vírus da rubéola. Morte fetal e aborto espontâneo foram reportados em 10 (40%) dos 25 casos analisados. O vírus da rubéola foi amplificado por PCR em todos os fetos que apresentaram alterações na ultrassonografia, compatíveis com a rubéola. Morte fetal e aborto foram relatados em 10 dos 25 casos analisados. Conclusão: os resultados mostraram que os ensaios moleculares são ferramentas importantes para o diagnóstico precoce da rubéola e da síndrome da rubéola congênita.

This article begins with the state of assessment in the 1960s and traces changes through the end of the century. The birth of 20,000 children with rubella syndrome began the focus on the assessment of young children with disabilities. The author's personal challenge in this process led to an unanticipated career in the field of assessment. The strengths of multiple measures, including standardized, norm-referenced measures and informal, functional measures, were all touted as essential in the assessment process. The author recognizes the many events that contributed to her involvement in developing assessment measures and in broadening the assessment mission. The role of the past and its linkage and contributions to the future are conveyed throughout the article.

In 2010, an expert advisory panel convened by the World Health Organization to assess the feasibility of measles eradication concluded that (1) measles can and should be eradicated, (2) eradication by 2020 is feasible if measurable progress is made toward existing 2015 measles mortality reduction targets, (3) measles eradication activities should occur in the context of strengthening routine immunization services, and (4) measles eradication activities should be used to accelerate control and elimination of rubella and congenital rubella syndrome (CRS). The expert advisory panel also emphasized the critical role of research and innovation in any disease control or eradication program. In May 2011, a meeting was held to identify and prioritize research priorities to support measles and rubella/CRS control and potential eradication activities. This summary presents the questions identified by the meeting participants and their relative priority within the following categories: (1) measles epidemiology, (2) vaccine development and alternative vaccine delivery, (3) surveillance and laboratory methods, (4) immunization strategies, (5) mathematical modeling and economic analyses, and (6) rubella/CRS control and elimination. © 2012.

Teratology is the study of congenital anomalies and their causes, and interest in teratology has been longstanding, with Egyptian wall paintings depicting children with birth defects over 5,000 years ago [Barrow, 1971]. By definition, teratogenic factors include both non-genetic and genetic factors that increase the risk for birth defects [Fraser, 2010]; however, traditionally, the term “teratogenic” has been used to refer to non-genetic factors that cause birth defects. The study of human teratogenic exposures is a relatively new one, emerging in the past 70 years. Before maternal rubella infection during pregnancy was identified as a cause of birth defects and developmental disabilities in 1941 by an ophthalmologist, Norman Gregg, birth defects were generally believed to be inherited [Gregg, 1991; Webster, 1998]. The uterus was thought to serve as a barrier, protecting the infant from the effects of external factors [Fraser, 2010]. But recognition of maternal rubella syndrome and subsequently, of thalidomide as a cause of birth defects in 1961 by McBride and Lenz [McBride, 1961; Lenz and Knapp, 1962], increased awareness of the effects that non-genetic factors could have on the development of the embryo or fetus.

BACKGROUND: Congenital rubella syndrome (CRS) has long been characterized by the triad of deafness, cataract, and cardiovascular malformations (CVMs). While initial reports identified patent ductus arteriosus (PDA) as the primary CVM in CRS, the exact nature of the CVMs found in CRS has not been well established. METHODS: We searched the English literature from 1941 through 2008 to identify studies that used cardiac catheterization or echocardiography to evaluate the CVMs in CRS. RESULTS: Of the 121 patients in the 10 studies with catheterization data, 78% had branch pulmonary artery stenosis, and 62% had a PDA. In 49% of cases, both branch pulmonary artery stenosis and PDA were present, whereas isolated branch pulmonary artery stenosis and isolated PDA were found in 29 and 13% of cases, respectively. Of the 12 patients in the 10 studies with echocardiographic data, PDA was more common than branch pulmonary artery stenosis, but this finding is greatly limited by the small numbers of patients and limitations of echocardiography. Although published studies of CVMs in CRS have in general reported PDA as the CVM phenotype most commonly associated with CRS, among CRS cases evaluated by catheterization, branch pulmonary artery stenosis was actually more common than PDA. Moreover, although the combination of branch pulmonary artery stenosis and PDA was more common than either branch pulmonary artery stenosis or PDA alone, isolated branch pulmonary artery stenosis was twice as common as isolated PDA. CONCLUSION: Among children with suspected CRS, clinical evaluations for the presence of CVMs should include examinations for both branch pulmonary artery stenosis and PDA. Birth Defects Research (Part A), 2010. © 2009 Wiley-Liss, Inc.

The research was aimed at describing the meaning of the rubella vaccine to women who were discovered pregnant after having received the measles-rubella vaccine during the 2001 campaign against rubella, and who lived in 10 cities within the region of DIR XX from São João da Boa Vista. The theory of Social Representation was used as a reference framework for the research, and data were collected through the Collective Subject Discourse technique, involving 18 women who either were pregnant or became pregnant within 30 days after having received the vaccine. Through their discourse, it was possible to unveil the diversity of meanings the rubella vaccine has when dispensed during pregnancy, characterized as a threat to their and their children's physical integrity and to their conjugal relationship. The meanings constitute an important source of information that allows health professionals and administrators to reflect, so they can reconsider their role as health promoters. Se trató de describir el significado de la vacuna contra la rubeola para las mujeres que se enteraron del embarazo después de recibir la vacuna dupla viral, debido a la campaña contra la rubeola-2001, en la DIR XX de São João da Boa Vista. Fue adoptada como referencia la Teoría de la Representaciones Sociales. La colección de datos fue realizada a través de la técnica de Discurso del Sujeto Colectivo con 18 gestantes y mujeres embarazadas hasta 30 días después de la aplicación de la vacuna, consideradas suceptibles a la rubeola, habitantes de 10 municipios de la región. Considerando los discursos de las mujeres, fue posible detectar los diferentes resultados de la vacuna contra la rubeola cuando es aplicada durante la gestación, representada como amenaza a su integridad, a la de su hijo y a su relación conyugal. Esos significados se constituyen en importante fuente de información que brinda a los profesionales de la salud y gestores una reflexión sobre desempeño de su papel como agentes promotores de la salud. Buscou-se descrever o significado da vacina contra rubéola para mulheres que se descobriram grávidas após receberem a vacina dupla viral, por ocasião da campanha contra rubéola-2001, na DIR XX de São João da Boa Vista, SP. Adotou-se como referencial a Teoria das Representações Sociais. A coleta de dados foi realizada através da técnica do Discurso do Sujeito Coletivo com 18 mulheres grávidas e que engravidaram até 30 dias após aplicação da vacina, consideradas suscetíveis à rubéola, residentes em 10 municípios da região. Através dos discursos das mesmas, foi possível desvelar a diversidade de significados da vacina contra a rubéola quando aplicada durante a gravidez, representada como ameaça à sua integridade, à de seu filho e ao seu relacionamento conjugal. Esses significados constituem-se em importante fonte de informação que propicia aos profissionais de saúde e gestores reflexão sobre o seu papel como agentes promotores de saúde.

Objective: To determine congenital rubella syndrome (CRS) presence in Peru. Design: Descriptive, cross sectional study. Material and Methods: Review of clinical records of children hospitalized between January 1998 and June 2000 at 17 hospital pediatric services in seven districts of Peru, children who presented al least one of the following diagnosis: congenital cataracts or glaucoma, retinitis pigmentosa, congenital cardiac malformation or neurosensorial deafness. The cases were classified as suspected, probable and confirmed. Results: From 91102 hospital discharge diagnosis of children less than 12 year-old, 361 fulfilled inclusion criteria; 51,8% were suspicious, 9,7% probable, and 1,4% confirmed; 93,6% had congenital heart symptomatology, 29,6% central nervous alterations, and 18,6% ocular manifestations;11% of the children had at least two clinical manifestations. Conclusion: There is evidence of CRS in children hospitalized at 17 hospitals in Peru., Objetivo: Determinar la presencia de casos de síndrome de rubéola congénita (SRC) en Hospitales Nacionales e Institutos Especializados del Perú. Diseño: Transversal, descriptivo. Material y Métodos: Se revisó historias clínicas de niños hospitalizados entre enero de 1998 y junio de 2000 en 17 hospitales ubicados en 7 departamentos del Perú, niños que presentaron cuando menos alguno de los siguientes diagnósticos: catarata o glaucoma congénitos, retinitis pigmentosa, malformación cardíaca congénita o sordera neurosensorial. Resultados: De 91 102 diagnósticos de egresos hospitalarios en niños menores de 12 años, 361 cumplían con los criterios de inclusión para el estudio; de ellos, 187 (51,8%) tuvieron sospecha de síndrome de rubéola congénita (SRC), 35 (9,7%) fueron casos probables y 5 (1,4%) confirmados. Las principales manifestaciones clínicas fueron cardiovasculares (93,6%), del sistema nervioso central (29,6%) y oculares (18,6%); 11% de los niños tuvo más de una manifestación clínica. Conclusión: Existe evidencia de niños con SRC que han sido hospitalizados en 17 hospitales en el Perú.

OBJECTIVE: To determine the presence of congenital rubella syndrome (CRS) in three Peruvian cities. DESIGN: Transversal, descriptive study. MATERIAL AND METHODS: Children under twelve years old with major definition criteriae of congenital rubella syndrome receiving special education in Lima (three), Cusco (two) and Arequipa (one) schools, from 1998 to 2000, were included. RESULTS: From 364 children 105 were included, 61% of cases suspicious, 21% probable and 1,9% confirmed; 64,7% had central nervous system manifestations, 31% ocular manifestations, 18% at least two clinical manifestations. CONCLUSIONS: Probable and confirmed cases of CRS represented 6,6% of all children receiving special education, evidencing that CRS represents a health problem in our country and the need to initiate anti-rubella vaccination in Peru., Objetivo: Deteminar la presencia de casos de síndrome de rubéola congénita (SRC) en tres ciudades del Perú. Diseño: Transversal, descriptivo. Material y métodos: En 6 colegios de educación especial para niños sordos y/o ciegos, ubicados en Lima (tres), Cusco (dos) y Arequipa (uno), se analizó la información contenida en registros médicos de niños menores de 12 años. Se incluyó los casos con criterios mayores de la definición de SRC. Resultados: De 364 registros de niños que estudian en colegios especiales, se incluyó 105; de ellos, 64,7% (75) tuvo manifestaciones del sistema nervioso, 31% oculares. Utilizando una ficha validada para el estudio, 61,9% correspondió a casos sospechosos, 21% probables y dos fueron casos confirmados (1,9%). Conclusiones: Debido a que 6,6% (24) del total de niños que estu- dian en colegios especiales son casos probables y confirmados de SRC, se evidencia que éste es un problema que existe en el país, por lo cual se fundamenta la necesidad de iniciar la vacuna- ción antirubéolica en el país.

The goal of eliminating indigenous rubella and congenital rubella syndrome (CRS) in the United States in the near future is now within reach, because rubella incidence has been sustained at record-low levels since the mid-1990s. Effective prevention strategies to eliminate CRS and rubella require improvement in the surveillance of CRS and congenital rubella infection (CRI). The purpose of the workshop was to review rubella and CRS epidemiology, as well as current clinical, diagnostic, and laboratory practices, to determine whether new strategies are needed to achieve and document CRS elimination. Workshop participants agreed that surveillance for CRS must be strengthened, particularly through augmented laboratory capabilities, and the case definition for CRS must be revised to reflect the current scientific information available. Further studies of methods are needed to identify high-risk populations and geographic areas for rubella and CRS and to enhance identification of infants with CRS.

Congenital rubella syndrome has a wide variety of severe ophthalmic and systemic complications. A worldwide rubella epidemic from 1963 to 1965 affected thousands of infants. This is a 20 year follow up study of patients with congenital rubella syndrome analysing the prevalence of ophthalmic disorders, associated systemic problems, and correlations among these defects. The authors statistically analysed 125 cases of congenital rubella seen in the Mayo clinic ophthalmology department over a 32 year interval. Most patients were young adults. Ocular disease was the most commonly noted disorder (78%), followed by sensorineural hearing deficits (66%), psychomotor retardation (62%), cardiac abnormalities (58%), and mental retardation (42%). Multiorgan disease was typical (88%). Ocular disease and hearing loss were frequently associated (53% had both) but not significantly correlated. A similar association existed between ocular and cardiac disease. Cataracts and microphthalmia were significantly correlated with poor visual acuity (each p0.0001). Glaucoma was significantly correlated with cataracts (p = 0.0002) and microphthalmia (p = 0.0024) but not poor visual acuity. Four patients with microphthalmia developed late onset glaucoma. No significant association was found between gestational age at time of maternal infection and the incidence of individual ocular conditions. However, several cardiac disorders were significantly associated with gestational age. Although new cases of congenital rubella are rare, surviving victims continue to challenge the ophthalmic and medical communities with a wide range of ocular and systemic disorders.

Specimens of three corneas in two patients with Peter's anomaly were obtained at the time of penetrating keratoplasty and studied by scanning and transmission electron microscopy. In one patient, the anomaly was monocular, and the endothelial surface showed a central defect in Descemet's layer with isolated rounded defects in the midperiphery. Fine collagenous material covered the posterior surface. The other two specimens were obtained from a patient with rubella syndrome without cataracts. The cornea showed malformation of Descemet's membrane with fibroblastic overgrowth on the endothelial layer. Epithelial-like cells and leukocytes were also found. The congenital central leukoma we believe was caused by adhesion of the pupillary membrane in our first patient, and possibly was inflammatory in our second patient.