Enhancing understanding of SARS-CoV-2 infection among individuals with Down syndrome: An integrative review

ABSTRACT BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).

Cirugía plástica facial en niños con síndrome de Down / Facial Plastic Surgery in Children with Down Syndrome

Introducción: El síndrome de Down comprende diversos grados de retraso mental y un número de rasgos característicos en su facies. Debido a que estos pacientes presentan problemas en la vida social, laboral y educacional se han buscado soluciones que hagan de estos niños, individuos socialmente útiles. Este artículo muestra los resultados obtenidos en 22 pacientes con este síndrome que fueron tratados quirúrgicamente para corregir sus estigmas faciales. Objetivo: Demostrar los cambios funcionales y ventajas estéticas que se obtienen con la cirugía plástica facial en el paciente con síndrome de Down. Métodos: Se escogieron 22 pacientes con síndrome de Down de 3 a 14 años de edad en el período comprendido de 1986 a enero 2019. Se incluyeron los 15 primeros casos atendidos en el Hospital Pediátrico Docente William Soler en el Servicio de Cirugía Plástica y posteriormente en otros centros nacionales de salud. Los procederes quirúrgicos realizados para la corrección de los estigmas faciales fueron: glosectomía parcial, cantoplastia lateral, cantoplastia media y otoplastia. Resultados: Los cambios estéticos y funcionales fueron favorables, lo que mejoró la apariencia y eliminó los rasgos no atractivos. Se obtuvieron cambios positivos en el lenguaje y la respiración. La glosectomía y cantoplastia se realizó en el 100 por ciento de los casos. Conclusiones: Todos los pacientes operados atenuaron sus estigmas faciales, mientras que se reportaron beneficios respiratorios y mejoría en la esfera del lenguaje. El grado de satisfacción de los padres fue bueno(AU)

Introduction: Down syndrome comprises varying degrees of mental retardation and a number of characteristic facial features. Because these patients present problems in their social, occupational and educational life, solutions have been sought to make these children socially useful individuals. This work shows the results obtained in 22 patients with this syndrome who were surgically treated to correct their facial stigmata. Objective: To show the functional changes and aesthetic advantages obtained with facial plastic surgery in patients with Down syndrome. Methods: A number of 22 patients with Down syndrome aged 3 to 14 years were chosen, in the period from 1986 to January 2019. The first 15 cases attended in the plastic surgery service of Hospital Pediátrico Docente William Soler were included; later, others attended in other national health centers. The surgical procedures performed for the correction of facial stigmata were partial glossectomy, lateral canthoplasty, medial canthoplasty, and otoplasty. Results: Aesthetic and functional changes were favorable, improving appearance and eliminating unattractive features. Positive changes in speech and breathing were obtained. Glossectomy and otoplasty were performed in 100 percent of cases. Conclusions: All operated-on patients attenuated their facial stigmata, while respiratory benefits and speech improvement were reported. The degree of satisfaction of their parents was good(AU)

Diagnóstico prenatal de enfermedad de canal atrio-ventricular, análisis epidemiológico y experiencia CERPO entre 2003 y 2021 / Prenatal diagnosis of atrio-ventricular canal disease, epidemiological analysis and CERPO experience between 2003 and 2021

Antecedentes: En Chile, la mitad de los casos de mortalidad perinatal son atribuibles a anomalías congénitas, y un tercio de estas corresponde a cardiopatías congénitas. Aproximadamente un 35% de estos últimos requerirán cirugía antes del año de vida, por lo que la pesquisa prenatal impacta profundamente en el pronóstico. Objetivo: Dar a conocer los resultados perinatales de pacientes con diagnóstico prenatal de canal atrio-ventricular controlados en el Centro de Referencia Perinatal Oriente (CERPO) entre los años 2003 y 2021, su asociación a otras anomalías, características demográficas y pronóstico a un año. Métodos: En este estudio se puede apreciar que tanto el pronóstico como el plan terapéutico posnatal dependerán de la presencia de otras alteraciones morfológicas y del estudio genético. De los factores estudiados, se puede concluir que tanto la presencia de anomalías cardiacas asociadas, como el grado de insuficiencia valvular y el tipo de canal no son predictores de la sobrevida perinatal. Conclusiones: Finalmente, en relación con la sobrevida posnatal, en este estudio, la sobrevida a un año de los recién nacidos vivos fue de un 52%, pero al desglosarlo en los niños con cariotipo euploide y trisomía 21, estos valores se tornan muy distintos, 44 y 81% respectivamente.

Background: In Chile, half of the perinatal mortality cases are attributable to congenital anomalies, and one third of these correspond to congenital heart disease. Approximately 35% of the later will require surgery before one year of life, so prenatal screening has a profound impact on the prognosis. Objective: To present the perinatal results of patients with a prenatal diagnosis of atrio-ventricular canal controlled at Centro de Referencia Perinatal Oriente CERPO) between 2003 and 2021, its association with other anomalies, demographic characteristics, and 1-year prognosis. Methods: In this study it can be seen that both the prognosis and the postnatal therapeutic plan will depend on the presence of other morphological alterations and the genetic study. From the factors studied, it can be concluded that the presence of associated cardiac anomalies, the degree of valvular insufficiency, and the type of canal are not predictors of perinatal survival. Conclusions: Finally, in relation to postnatal survival, in this study, the 1-year survival of live newborns was 52%, but when broken down into children with euploid karyotype and trisomy 21, these values become very different, 44 and 81% respectively.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Falsos positivos del cribado de trisomía 21 y 18 del primer trimestre y complicaciones obstétricas / Adverse outcomes in pregnancies with false positive trisomy 21 and 18 screening results

OBJETIVO: Analizar si los casos positivos de cribado combinado de trisomía 21 (t21) o trisomía 18 (t18) en ausencia de aneuploidía (falsos positivos- FP) se relacionan con complicaciones de la gestación, ajustando por factores demográficos y clínicos de riesgo. MATERIAL Y MÉTODOS: Estudio retrospectivo de casos y controles anidado en una cohorte de pacientes que acudieron para cribado del primer trimestre. Los casos fueron las pacientes con FP de riesgo combinado de t21 superior a 1/270 o riesgo de t18 superior a 1/100. Se consideraron complicaciones de la gestación: óbito fetal, parto prematuro menor de 34 semanas o prematuro menor de 37 semanas, preeclampsia, retrasos de crecimiento, pequeño para la edad gestacional (CIR, PEG) y diabetes gestacional (DG). Se ajustó por obesidad, edad, paridad, tabaquismo, y técnicas de reproducción asistida. RESULTADO: Se obtuvieron 204 casos de FP, 149 FP para trisomía 21, 41 para trisomía 18, y 14 FP para ambos riesgos. Se encontró asociación estadísticamente significativa de FP t21 con óbito fetal (OR=3,5; ic95% 1,4-8,7; p=0,01), parto prematuro menor de 37 semanas (OR=2,2; IC95% 1,4-3,4; p=0,001), preeclampsia (OR =2,6; IC95% 1,17-6,1; p=0,02), PEG (OR =2,2; IC95% 1,2-4,1; p=0,02), CIR (OR=2,8; IC95% 1,6-5,1; p=0,001), y DG (OR=2,1; IC95% 1,2-3,7; p=0,01). Los FP t18 se asociaron con óbito (OR=8,9; IC95% 2,9-27; p=0,002). CONCLUSIÓN: Los FP del cribado del primer trimestre, para trisomía 21 y trisomía 18, se asocian con resultados obstétricos adversos.

We have studied whether positive cases of combined trisomy 21 (t21) or 18 (t18) screening in the absence of aneuploidy (false positives -FP-) are related to pregnancy complications adjusting for demographic and clinical risk factors. METHODS: Retrospective case-control study nested in a cohort of patients who came for first trimester aneuploidy screening. The cases were patients with FP combined risk of t21 (greater than 1/270) or t18 risk (greater than 1/100). The control group was a sample of patients with low-risk screening. We considered pregnancy complications: stillbirth, premature delivery before 34 and 37 weeks, preeclampsia, growth retardation, small for gestational age (FGR, SGA), and gestational diabetes (GD). Or were adjusted for obesity, age, parity, smoking, and assisted reproduction techniques. RESULTS: 204 cases of FP were obtained, 149 FP for trisomy 21, 41 for trisomy 18, and 14 FP for both risks. A statistically significant association between t21 FP was found with stillbirth (OR = 3.5; 95% CI 1.4-8.7; p = 0.01), preterm delivery less than 37 weeks (OR = 2.2; 95% CI 1.4-3.4; p = 0.001), preeclampsia (OR = 2.6; 95% CI 1.17-6.1; p = 0.02), SGA (OR = 2.2; 95% CI 1, 2-4.1; p = 0.02), FGR (OR = 2.8; 95% CI 1.6-5.1; p = 0.001), and GD (OR = 2.1; 95% CI 1.2 −3.7; p = 0.01). FP t18s were associated with fetal loss (OR= 8.9 (95% CI 2.9-27) p = 0.002. CONCLUSION: FP from first trimester screening for t21 and t18 are associated with adverse obstetric outcomes.

Síndrome de Down e patologias associadas: uma revisão narrativa da literatura / Down syndrome and associated pathologies: a narrative review of the literature / Síndrome de Down y patologías asociadas: una revisión narrativa de la literatura

Objetivo: identificar por meio de uma revisão narrativa de literatura as patologias mais recorrentes em indivíduos com Síndrome de Down. Método: trata-se de uma revisão narrativa. Realizou-se um levantamento da literatura no Portal Pubmed e nas bases de dados de publicações científicas indexadas: Scientific Eletronic Library Online (Scielo), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Base de Dados de Enfermagem (BDENF) e Cumulative Index to Nursing and Allied Health Literature (CINAHL) e Portal PubMed, usando os descritores "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability", "Clinical manifestations". Resultados: foram encontrados 696 artigos, dos quais 24 foram analisados na íntegra, destes, foram selecionados 9 artigos que compuseram a amostra desta revisão. A maioria dos estudos selecionados mensurou as características fenotípicas peculiares nos indivíduos com essa anomalia, a saber: olhos oblíquos, orelhas baixas, braquidactilia, hipotonia, baixa estatura, braquicefalia, fissuras oblíquas na pálpebra, epicanto, manchas de Brushfield na íris, dentre outras. Conclusão: torna-se necessária uma atenção e acompanhamento regular dos profissionais de saúde acerca das patologias malignas, doenças autoimunes e inflamatórias que acometem as pessoas com SD.

Objective: to identify through a narrative literature review the most recurrent pathologies in individuals with Down syndrome. Method: this is a narrative review. A survey of literature was conducted on the Pubmed Portal and in the databases of indexed scientific publications: Scientific Electronic Library Online (Scielo), Latin American and Caribbean Literature on Health Sciences (LILACS), Nursing Database (BDENF) and Cumulative Index to Nursing and Allied Health Literature (CINAHL) and PubMed Portal, using the descriptors "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability" , "Clinical manifestations". Results: 696 articles were found, of which 24 were fully analyzed, of which 9 articles were selected that comprised the sample of this review. Most of the selected studies measured the peculiar phenotypic characteristics in individuals with this anomaly, namely: oblique eyes, low ears, brachydactyly, hypotonia, short stature, brachycephaly, oblique clefts in the eyelid, epicant, Brushfield spots on the iris, among others. Conclusion: it is necessary to have regular attention and follow-up of health professionals about malignant pathologies, autoimmune and inflammatory diseases that affect people with DS.

Objetivo: identificar a través de una literatura narrativa revisar las patologías más recurrentes en individuos con síndrome de Down. Método: esta es una revisión narrativa. Una encuesta de literatura se realizó en el Portal Pubmed y en las bases de datos de publicaciones científicas indexadas: Biblioteca Electrónica Científica en Línea (Scielo), Literatura Latinoamericana y del Caribe en Ciencias de la Salud (LILACS), Base de Datos de Enfermería (BDENF) e Índice Acumulativo de Literatura de Enfermería y Salud Aliada (CINAHL) y PubMed Portal, utilizando los descriptores "Síndrome de Down", "Patologías", "Trisomy 21", "Discapacidad Intelectual" , "Manifestaciones clínicas". Resultados: se encontraron 696 artículos, de los cuales 24 fueron analizados en su totalidad, de los cuales se seleccionaron 9 artículos que comprendían la muestra de este examen. La mayoría de los estudios seleccionados midieron las peculiares características fenotípicas en individuos con esta anomalía, a saber: ojos oblicuos, orejas bajas, braquidactilia, hipotonía, estatura baja, braquicefalia, hendiduras oblicuas en el párpado, epicante, manchas de Brushfield en el iris, entre otros. Conclusión: es necesario tener atención regular y seguimiento de los profesionales de la salud sobre patologías malignas, enfermedades autoinmunes e inflamatorias que afectan a las personas con DS.

Prenatal ultrasound analysis of 200 fetuses with trisomy 21 syndrome / 中国医师杂志

Objective:To analyze the prenatal ultrasound manifestation of trisomy 21 syndrome and investigate the clinical significance of prenatal ultrasound in screening 21-trisomy syndrome.Methods:A retrospective analysis of prenatal ultrasound results of 200 fetuses diagnosed with 21-trisomy syndrome by karyotype from May 2017 to August 2018 in Hunan Provincial Maternal and Child Health Care Hospital. Ultrasound abnormalities were divided into isolated soft markers, simple structural abnormalities, complex ultrasound markers. The relationship between these markers and trisomy 21 was analysed.Results:200 fetuses with trisomy 21 syndrome diagnosed by karyotype, in which 39 cases (19.5%, 39/200) abnormalities were detected by ultrasound, including soft indexes and structural abnormalities/other abnormalities. The rates of isolated soft indexes, simple structural abnormalities/ other abnormalities and complex ultrasound markers were 15.5%(31/200), 2.0%(4/200), 2.0%(4/200), respectively. The most common of soft markers in the first trimester was thickened nuchal translucency (4/18), thickened nuchal fold (13.19%, 24/182) in the second trimester, followed by nasal bone dysplasia, tricuspid regurgitation and polyhydramnios (1.65%, 3/182). The most common structural malformations in the second trimester was cardiovascular malformation (3.30%, 6/182).Conclusions:Prenatal ultrasound has a role to play in the screening of 21-trisomy syndrome, but exerts certain limitations. It is necessary to strengthen the understanding of the ultrasonographic features of trisomy 21 and improve the detection rate of abnormal indicators. Meanwhile, it should be combined with serological screening, non-invasive prenatal testing technology to increase the detection rate of trisomy 21.

Anomalías congénitas y comorbilidad en neonatos con Síndrome de Down / Congenital anomalies and comorbidities in neonates with Down Syndrome

INTRODUCCIÓN: El Síndrome de Down se presenta en 2,5 de 1.000 recién nacidos vivos chilenos. Presentan más anomalías congénitas y comorbilidades que la población general, aumentando su tasa de hospitalización. OBJETIVO: Describir las anomalías congénitas y comorbilidades de neonatos con Síndrome de Down nacidos y/u hospitalizados en la década 2008-2018. PACIENTES Y MÉTODO: Retrospectiva mente se revisaron registros de los pacientes nacidos y/u hospitalizados dentro de sus 28 días de vida entre el 1 de enero de 2008 y el 31 de diciembre de 2018. Para cada paciente se consignó: edad materna, antecedentes familiares de Síndrome de Down, antecedentes pre y perinatales y resultado de estudio genético. Se consignó la edad al ingreso, el motivo principal de ingreso, comorbilidades, días de hospitalización y fallecimiento. Se excluyeron dos pacientes con más del 50% de ficha in completa. Se exploraron asociaciones entre morbilidades, anomalías y fallecimiento. RESULTADOS: 140 de 79.506 (0,2%) recién nacidos vivos fueron diagnosticados con Síndrome de Down en el período neonatal. 24,7% fueron prematuros y 26,4% tuvieron bajo peso para su edad gestacional. Los porcentajes de morbilidad y hospitalización fueron 83,6% y 90%. La principal causa de ingreso fue la poliglobulia, y la más frecuente hiperbilirrubinemia. Fallecieron 4 pacientes (2,9%) y 70,7% presentó alguna una anomalía congénita, principalmente cardíaca. La mediana de edad materna fue de 36 años y 57,1% tenía 35 años o más. CONCLUSIONES: Esta investigación aporta información relevante para optimizar el manejo perinatal y el seguimiento de los pacientes con Síndrome de Down.

INTRODUCTION: In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate. OBJECTIVE: To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018. PATIENTS AND METHOD: We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death. RESULTS: 140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older. CONCLUSIONS: This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.

Prevalencia y perfil de cardiopatías congénitas en pacientes con Síndrome de Down. Hospital de Especialidades Pediátricas Omar Torrijos Herrera. 2011-2018 / Prevalence and profile of congenital heart disease in patients with Down syndrome. Omar Torrijos Herrera Pediatric Specialties Hospital. 2011-2018

Introducción: En los pacientes con Síndrome de Down, las cardiopatías congénitas alcanzan una prevalencia entre el 40 y 50%. Materiales y Métodos: El presente es un estudio descriptivo, retrospectivo, de corte transversal en el que se determinará la frecuencia de cardiopatías congénitas en la población con síndrome de Down síndrome de Down atendida en el Hospital de Especialidades Pediátricas "Omar Torrijos Herrera" entre los años 2011 y 2018, así como las cardiopatías congénitas más frecuentes encontradas. Resultados: 53 pacientes ingresaron en el estudio. Se encontró síndrome de Down asociado a cardiopatías congénitas en un 54.7% de los casos. De estos las cardiopatías más frecuentes encontradas fueron comunicación interventricular (CIV) con un 31.03%, ductus arterioso persistente (DAP) en un 20.69% y canal auriculoventricular (canal AV) en un 13.79% de los casos. Conclusiones: La prevalencia de cardiopatías congénitas en esto pacientes es similar a lo encontrado en la literatura. La cardiopatía más frecuente fue la comunicación interventricular. La prevalencia de hipertensión pulmonar y la mortalidad fueron menores que lo reportado en la literatura.

Introduction: Among patients with Down's syndrome, there is a prevalence of congenital heart disease of 40-50%. Materials y Methods: The present is a descriptive, retrospective, transversal study in which will be evaluated the frequency of congenital heart disease in children with Down's Syndrome attended in Omar Torrijos Herrera Pediatric Specialties Hospital between 2011 and 2018, and which congenital heart diseases are the most common in these population. Results: 53 patients were included in the study. It was found congenital heart disease in 54.7% of the cases. From these, 31.03% were ventricular septal defect (VSD), 20.69% were persistence of ductus arteriosus (PDA) and 13.79% auricular-ventricular septal defects (AVSD). Conclusions: The prevalence of congenital heart disease is similar to what is reported in literature. The congenital heart disease most frequent was ventricular septal defect. The prevalence of pulmonary hypertension and the mortality was lower than the reported in literature.

Hemorragia intracraniana en un feto con trisomia 21 y rabdomiomas cardiacos: diagnostico diferencial de esclerosis tuberosa: estudio antenatal a propósito de un caso / Intracranian hemorrhage in a fetus with trisomy 21 and cardiac rhabdomyomas: differential diagnosis of tuberous sclerosis: antenatal study regarding a case

INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.

INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.

Aspectos genómicos, transcriptómicos y del diagnóstico en el síndrome de Down / Genomic, transcriptomic, and diagnostic features of Down syndrome

El síndrome de Down es causado por la presencia de una tercera copia del cromosoma 21 y fue descrito por primera vez en 1838 por Jean-Etienne-Dominique, y más tarde por John Langdon Haydon Down en 1866, mientras trabajaba como superintendente médico en el Asilo Real de Earlswood. Desde ese momento, la comunidad científica puso grandes esfuerzos en tratar de elucidar diversos aspectos que influyen en la naturaleza de esta condición, y que determinan su incidencia y factores de riesgo. De igual manera, se ha puesto interés en los genes involucrados en esta enfermedad, la relación genotipo-fenotipo, la expresión del fenotipo, la variabilidad del material genético y las consecuencias transcripcionales que se producen al tener una tercera copia, ya sea parcial o total, del cromosoma 21. Además, se han invertido esfuerzos en identificar biomarcadores y en diseñar metodologías de diagnóstico prenatal no invasivo que sean altamente eficientes para un mejor diagnóstico del síndrome de Down, y así reducir su impacto negativo en las madres gestantes, al proveerlas de información neutral y precisa acerca de vivir con un hijo con síndrome de Down, y darles autonomía en la decisión de la continuación de su embarazo

Down syndrome is caused by the presence of a third copy of chromosome 21 and was first described by Jean-Etienne-Dominique in 1838, and later by John Langdon Haydon Down in 1866, while working as a medical superintendent in the Royal Earlswood Asylum. Since, the scientific community has placed great efforts in trying to elucidate different influencing features in the nature of this condition that determine their incidence and risk factors. In addition, especial attention has been given to the genes involved in this disease, the genotype-phenotype relationship, the expression of the phenotype, the variability of the genetic material and the transcriptional consequences that are produced by having a third copy, either partial or total, of chromosome 21. Additionally, efforts have been invested in identifying biomarkers and designing noninvasive prenatal methodologies that are highly efficient for a better diagnosis of Down syndrome, in order to reduce its negative impact in pregnant mothers, by providing them with neutral and accurate information about life with a child with Down syndrome, as well as providing the autonomy in the decision to continue their pregnancy

Hypermethylation of NRG1 gene correlates with the presence of heart defects in Down’s syndrome

Congenital heart defects can decrease the quality of life and life expectancy in affected individuals, and constitute a major burden for the health care systems. Endocardial cushion defects are among the most prevalent heart malformations in the general population, and are extremely frequent (approximately a 100-fold higher prevalence) in children with Down syndrome. Several genes have been proposed to be involved in the pathogenesis of these malformations, but no common pathogenic DNA variants have been identified so far. Here, we focussed on constitutive, epigenetic alterations of function of selected genes, potentially important for endocardial cushion development. We used two types of microarrays, dedicated for assessment of gene promoter methylation and whole genome expression. First, we compared the gene promoter methylation profiles between two groups of Down syndrome patients, with and without heart defects of endocardial cushion-type. Then, to determine the functional role of the detected methylation alterations, we assessed the expression of the genes of interest. We detected significant hypermethylation of the NRG1 gene promoter region in children with heart defects. NRG1 is a key factor in maturation of endocardial cushions. Supplementary gene expression assessment revealed significantly decreased activity of the ERBB3, SHC3 and SHC4 genes in children with heart defects. The above three genes are closely related to the NRG1 gene and are crucial elements of the NRG/ErbB pathway. The results of this pilot study show that hypermethylation of the NRG1 gene promoter can reflect the functional genome alteration contributing to development of congenital heart defects of endocardial cushion-type

Características otorrinolaringológicas en niños con trisomía 21: un estudio de 171 pacientes en el Hospital Infantil de México Federico Gómez / Otolaryngological features in children with trisomy 21: a study of 171 patients at the Hospital Infantil de México Federico Gómez

Resumen Introducción: Los niños con trisomía 21 enfrentan una amplia gama de problemas en la región de la cabeza y el cuello, por lo cual es importante reconocer las manifestaciones otorrinolaringológicas que presentan, así como su apropiado manejo. Métodos: Estudio de serie de casos retrospectivo de pacientes pediátricos con trisomía 21. De cada caso se analizó el espectro de manifestaciones otorrinolaringológicas, el manejo establecido y los resultados. Resultados: Se incluyeron 171 niños. La edad media de la primera valoración por otorrinolaringología en la institución fue de 7.2 ± 4.2 años. Las manifestaciones otológicas más frecuentes fueron la estenosis del conducto auditivo externo y la disfunción de la trompa de Eustaquio. Más de la mitad de los pacientes (63 %) presentaron hipoacusia, principalmente de tipo conductivo bilateral, y hasta el 75 % de los pacientes con afectación otológica requirieron algún procedimiento quirúrgico. Las manifestaciones rinológicas más comunes fueron la rinosinusitis crónica y la rinitis alérgica. La apnea obstructiva del sueño estuvo presente en el 30% de los pacientes. El tratamiento principal fue la amigdalectomía, seguida del tratamiento con dispositivos de presión positiva de la vía aérea. Menos del 5 % de los pacientes presentaron un compromiso laríngeo. Conclusiones: Los pacientes pediátricos con trisomía 21 deben ser remitidos sistemáticamente a una evaluación otorrinolaringológica periódica, debido a la alta incidencia de manifestaciones en esta región. Se deben ofrecer tratamientos oportunos para mejorar su salud y calidad de vida.

Abstract Introduction: Children with trisomy 21 face a wide range of conditions in the head and neck region, for which it is important that physicians are aware and have a strong understanding of the ear, nose, and throat (ENT) disorders, and their management as well. Methods: Retrospective case series of pediatric patients with trisomy 21. The spectrum of otolaryngological manifestations, their management, and outcomes of each case were analysed. Results: One hundred and seventeen pediatric patients were included. The mean age was 7.2 ± 4.2 years. More than half of the patients (63 %) had hearing loss (HL). The most frequent presentation was conductive HL, predominating the mild and bilateral type. The most common otological manifestations found were external ear canal stenosis and Eustachian tube dysfunction. Up to 75 % of the patients with otologic involvement required some surgical procedure. The most common rhinological manifestations were chronic rhinosinusitis and allergic rhinitis. Obstructive sleep apnea (OSA) was present in 30% of all patients, which main treatment was tonsillectomy, followed by continuous positive and biphasic positive airway pressure treatments. Less than 5 % of the patients presented a laryngeal compromise. Conclusions: Pediatric patients with trisomy 21 systematically should be referred to periodic ENT assessment due to the high incidence of manifestations in this region. Timely treatments should be offered in order to improve the health and the quality of life of the patient.

Livedo reticularis by hypothermia during anesthesia for dental treatment in Down's syndrome patient / Livedo reticular por hipotermia durante anestesia para tratamento odontológico em paciente com síndrome de Down

Abstract Background: Livedo reticularis is a benign dermatological condition characterized by ischemic areas permeated by erythematous-cyanotic areas in a lacy pattern, and may be transient or permanent and is frequently associated with body exposure to cold. Cutaneous arterial vasospasm promotes ischemia, and venous dilation of the congested areas occurs by tissue hypoxia or autonomic dysfunction. Patients with Down's syndrome, due to their physiological peculiarities, constitute a representative part of those who require dental care under general anesthesia, and livedo reticularis has a reported incidence of 8-12% in Down's syndrome patients. Objectives: To describe the physiological livedo reticularis in a Down's syndrome patient, with the onset during the anesthetic-surgical procedure. Case report: 5-year-old female patient with Down's syndrome, admitted for dental treatment under balanced general anesthesia with sevoflurane, fentanyl, and atracurium. Transoperative hypothermia occurred with axillary temperature reaching 34.5 °C after 30 min after the beginning of anesthesia. At the end of the procedure, red-purplish skin lesions interspersed with areas of pallor were observed exclusively on the ventromedial aspect of the right forearm, with no systemic signs suggestive of allergic reactions. The established diagnosis was physiological livedo reticularis. There was a total fading of the lesions within 5 days. Conclusion: This report evidences the need for thermal control of patients undergoing anesthesia, as well as the manifestation of livedo reticularis as a consequence of transoperative hypothermia.

Resumo Justificativa: O livedo reticular representa quadro dermatológico benigno, caracterizado por áreas isquêmicas permeadas por áreas eritematocianóticas em padrão rendilhado, pode ser transitório ou permanente e frequentemente é associado à exposição corporal ao frio. O vasoespasmo arterial cutâneo promove a isquemia e a dilatação venosa das áreas congestas e ocorre por hipóxia tecidual ou por disfunção autonômica. Os portadores da síndrome de Down, devido às suas peculiaridades fisiológicas, constituem uma representativa parcela daqueles que necessitam de atendimento odontológico sob anestesia geral e o livedo reticular tem incidência relatada de 8% a 12% em pacientes com síndrome de Down. Objetivos: Descrever quadro de livedo reticular fisiológico em paciente portador de síndrome de Down, com aparecimento durante o ato anestésico-cirúrgico. Relato do caso: Paciente de cinco anos, sexo feminino, síndrome de Down, admitida para tratamento odontológico sob anestesia geral balanceada, com emprego de sevoflurano, fentanil e atracúrio. Houve ocorrência de hipotermia transoperatória, a temperatura axilar atingiu 34,5 ºC após 30 minutos do início da anestesia. Ao término do procedimento, notaram-se lesões cutâneas vermelho-arroxeadas, intercaladas com áreas de palidez, exclusivamente na face ventromedial do antebraço direito, sem sinais sistêmicos sugestivos de reações alérgicas. O diagnóstico firmado foi de livedo reticular fisiológico. Houve esmaecimento total das lesões em cinco dias. Conclusão: O relato apresentado evidencia a necessidade de controle térmico de pacientes submetidos a anestesias, bem como registra manifestação de livedo reticular em consequência de hipotermia transoperatória.

Correlation of Maternal Age with Prevalence of Chromosomal Anomalies in Patients of Anorectal Malformation

Introduction: Aims: To identify the Anorectal malformations patients in North Indian region and then study the karyotype of these patients to evaluate cytogenetic aberrations and then correlate it with the maternal age. Subjects and Methods: Forty eight patients of anorectal malformation were selected from Department of Paediatric Surgery, KGMU, UP, Lucknow. Blood samples were collected and their cytogenetic study was done in the Department of Anatomy, KGMU-U.P, Lucknow. Karyotypes obtained were further analysed. Results: Out of 48 children enrolled in the study, karyogram could be obtained for 45 cases (93.75%). Maternal age at the time of birth of the child was <30 years in 91.1% cases. There were only 8.9% women who were >30 years of age at the time of birth of the child. However, proportion of those with anomalies was significantly higher in >30 years age group (75%) as compared to that in <30 years age group (2.4%). Conclusion: Although low maternal age was found most commonly, but number of cases with chromosomal anomalies was reported more in >30 years of age, which could be due to increased risk of congenital anomalies and malformations with advanced age.

Tamizaje prenatal de trisomía 21 en el Perú por medio del test combinado ampliado contingente en el primer trimestre / Prenatal screening of trisomy 21 in Peru through the first-trimester contingent combined plus screening test

Introduction. The combined first-trimester screening test is the international recommendation for prenatal screening of trisomy 21. The combined plus screening test adds one or more ultrasound markers (ductus venosus, tricuspid flow, nasal bone). The contingent test is a two-step protocol of risk assessment that considers all markers only as a contingency in the group with an inconclusive result. Objective: Assessment of the performance of the Kagan biochemical contingent protocol in our population. Methods. All pregnant women between 11 and 13 weeks attended in our unit were assessed with the first-trimester combined plus screening test. We followed the Fetal Medicine Foundation published quality criteria and the International Society of Ultrasound in Obstetrics and Gynaecology guidelines. Results 2 578 single pregnancies were assessed; the foetuses were classified by an initial ultrasound evaluation; 37 (1,4%) presented high risk (≥ 1/50), 1 888 low risk (<1/1 000) and 653 intermediate risk (between 1/51 and 1/1 000). Contingent PAPP-a and free beta-hCG were recommended to pregnant women with intermediate risk. 46 (1,8%) other foetuses were classified at high risk for trisomy 21 following biochemical testing. All trisomy 21 foetuses in our cohort were among them. Pregnant women over the age of 36 (at ultrasound date) or 38 (at term) were considered with basal high risk (BHR basal risk ≥ 1/200), since all of them needed biochemical testing. Conclusions: Our results validated Kagan's protocol. The false positive rate and the size of the intermediate risk subgroup would depend on the maternal age distribution.

Introducción. El tamizaje combinado es la recomendación internacional para el tamizaje prenatal de trisomía 21 en el primer trimestre. El test combinado ampliado agrega uno o más marcadores ecográficos (ducto venoso, flujo tricuspídeo y osificación del hueso nasal). La variedad contingente consiste en dividir la evaluación en dos etapas y usar todos los marcadores solo como contingencia en el grupo con resultado dudoso. Objetivo. Demostrar la efectividad del protocolo de bioquímica contingente propuesto por Kagan. Métodos. Se aplicó el test combinado ampliado en variedad contingente a todas las gestantes con embarazos únicos que acudieron al servicio entre las semanas 11 y 13. Se siguió los criterios publicados por la Fetal Medicine Foundation y la International Society of Ultrasound in Obstetrics and Gynecology. Resultados. Se evaluó 2 578 fetos de embarazos únicos. La evaluación ecográfica inicial identificó 37 (1,4%) fetos con riesgo de 1/50 o mayor (riesgo alto), 1 888 fetos con riesgo menor a 1/1 000 (riesgo bajo) y 653 fetos con riesgo entre 1/51 y 1/1 000 (riesgo intermedio). Como contingencia, al grupo de fetos con riesgo intermedio se les indicó las pruebas bioquímicas (PAPP-a y hCG) que seleccionaron otros 46 (1,8%) fetos con riesgo alto de trisomía 21. Los seis fetos con trisomía 21 en la cohorte estuvieron en el grupo de riesgo alto. Se identificó una población de riesgo basal alto (RBA) (mayores de 36 o 38 años, dependiendo si el riesgo es evaluado en el momento de la ecografía o a término) de trisomía 21, en las cuales no es aplicable el modelo contingente, ya que todas requieren las pruebas bioquímicas. Conclusiones. Nuestros resultados validan el modelo propuesto por Kagan. La tasa de falsos positivos y el tamaño del grupo de riesgo intermedio dependerá de la distribución de la edad materna.

First-trimester combined screening test for aneuploidies in brazilian unselected pregnancies: diagnostic performance of fetal medicine foundation algorithm / Rastreio combinado do primeiro trimestre para aneuploidias em gestantes brasileiras não selecionadas: desempenho diagnóstico do algoritmo da Fetal Medicine Foundation

Abstract Objective The main objective of this study was to examine the diagnostic performance of the first-trimester combined test for aneuploidies in unselected pregnancies from Rio de Janeiro and compare it with the examples available in the literature. Methods We investigated 3,639 patients submitted to aneuploidy screening from February 2009 to September 2015. The examination is composed of the Fetal Medicine Foundation risk evaluation based on nuchal translucency evaluation, mother's age, presence of risk factors, presence of the nasal bone and Doppler of the ductus venous in addition to biochemical analysis of pregnancy-associated plasma protein A (PAPP-A) and beta-human chorionic gonadotropin (β-hCG) markers. The cut-off point for high risk for aneuploidies was defined as greater than 1:100, with intermediate risk defined between 1:100 and 1:1,000, and low risk defined as less than 1:1,000. The variable aneuploidy was considered as a result not only of trisomy of chromosome 21 but also trisomy of chromosomes 13 and 18. Results Excluding the losses, the results of 2,748 patients were analyzed. The firsttrimester combined test achieved 71.4% sensitivity with a 7.4% false-positive (FP) rate, specificity of 92.6%, positive predictive value (PPV) of 6.91% and negative predictive value (NPV) of 99.76%, when the cut-off point considered was greater than 1:1,000. Through a receiving operating characteristics (ROC) curve, the cut-off point that maximized the sensitivity and specificity for the diagnosis of aneuploidies was defined as 1:1,860. When we adjusted the false-positive (FP) rate to 5%, the detection rate for this analysis is 72.7%, with a cut-off point of 1:610. Conclusion The combined test of aneuploidy screening showed a detection rate inferior to those described in the literature for a higher FP rate.

Resumo Objetivo O objetivo principal deste estudo foi examinar o desempenho diagnóstico do rastreio combinado de aneuploidias do primeiro trimestre em gestações não selecionadas do Rio de Janeiro e compará-lo com os exemplos disponíveis na literatura. Métodos Investigamos 3.639 pacientes submetidas à triagem para aneuploidia, de fevereiro de 2009 a setembro de 2015. O exame é composto pela avaliação do risco da FetalMedicine Foundation combase na avaliação da translucência nucal, idade da mãe, presença de fatores de risco, presença de osso nasal e Doppler do ducto venoso, além da análise bioquímica dos marcadores proteína A plasmática associada à gravidez (PAPP-A) e gonadotrofina coriônica humana-beta (β-hCG). O ponto de corte para alto risco de aneuploidias foi definido como superior a 1:100, para risco intermediário foi definido entre 1: 100 e 1: 1.000 e para baixo risco foi definido como inferior a 1:1.000. A variável aneuploidia foi considerada não apenas como resultado da trissomia do cromossomo 21, mas também da trissomia dos cromossomos 13 e 18. Resultados Excluindo as perdas, foram analisados os resultados de 2.748 pacientes. O teste combinado do primeiro trimestre alcançou 71,4% de sensibilidade com uma taxa de falsos positivos (FPs) de 7,4%, especificidade de 92,6%, (valor preditivo positivo) VPP de 6,91% e (valor preditivo negativo) VPN de 99,76%, quando o ponto de corte considerado foi maior que 1:1.000. Através de uma curva de característica de operação do receptor (COR), o ponto de corte que maximizou a sensibilidade e especificidade para o diagnóstico de aneuploidias foi de 1:1.860. Quando corrigimos a taxa de FP para 5%, a taxa de detecção para esta análise é de 72,7%, com um ponto de corte de 1:610. Conclusão O rastreio combinado de aneuploidia mostrou uma taxa de detecção inferior à descrita na literatura para uma maior taxa de FP.

Consecuencias y complicaciones de la amniocentesis. Experiencia de dos centros latinoamericanos de medicina materno fetal / Results and complications of amniocentesis. Experience of two centers of Latin American fetal maternal medicine

Resumen Objetivo Describir las indicaciones, complicaciones y repercusiones de la amniocentesis. Materiales y métodos Estudio descriptivo, observacional y transversal de las amniocentesis efectuadas de 2009 a 2015 en dos unidades de medicina materno fetal de Bogotá, Colombia. Se evaluaron las características de las pacientes, indicación de los procedimientos y las complicaciones. Además, los hallazgos se compararon con reportes de diferentes estudios de la bibliografía internacional. Resultados Se incluyeron 748 amniocentesis. La mediana de edad de las pacientes fue de 29 años (límites 23 y 37). La indicación más común fue el estudio genético en 508 casos (67.9%). Se reportaron 89 (17.5%) casos de cromosomopatías, y de éstas la de mayor frecuencia fue la trisomía 21 en 41 pacientes (46%). La mayor parte de las complicaciones se registró en embarazos que superaron las 20 semanas. La pérdida del embarazo y la amenaza de parto pretérmino atribuibles a la amniocentesis fueron de 0.9 y 2.5%, respectivamente. Conclusión Las características de la amniocentesis permitieron conocer sus repercusiones, complicaciones, tasa de pérdida real o factores asociados, con miras a explorar los factores maternos y fe tales en embarazos únicos y múltiples en dos unidades de Medicina Materno Fetal latinoamericanas.

Abstract Objective The purpose of this paper is to describe the indications, complications and results of amniocentesis performed in two fetal maternal medicine units in Bogota Colombia between 2009 and 2015. Materials and methods Cross-sectional observational descriptive study; 770 amniocentesis performed during 6 years (2009 - 2015) with evaluation of the characteristics of the patients, procedures and complications observed were evaluated. In addition, the findings were compared with reports from different studies of the world literature. Results 748 amniocentesis data were included, statistically analyzing the clinical characteristics of the patients and the results, indications and complications of the procedure. The median age was 29 years (RIQ: 23-37). The most common indication was genetic in 508 cases (67.9%). 89 (17.5%) cases of chromosomopathies were reported, with trisomy 21 being more frequently observed in 41 patients (46%). The loss of pregnancy and the threat of preterm labor attributable to amniocentesis were 0.94% and 2.54%, respectively. Conclusion The characteristics of amniocentesis allow us to know statistics of outcomes, complications, actual loss rate or associated factors, with a view to exploring both maternal and fetal factors in single and multiple pregnancies in two units of Latin American Fetal Maternal Medicine.

Diagnóstico prenatal y repercusiones perinatales de la persistencia de vena cava superior izquierda. Serie de casos y revisión bibliográfica / Prenatal diagnosis and perinatal results of the persistent left superior vena cava. Cases series and literature review

Resumen Objetivo Describir las anomalías asociadas y las repercusiones perinatales de la persistencia de la vena cava superior izquierda en el feto y revisar la bibliografía. Materiales y métodos Estudio descriptivo, transversal y retrospectivo efectuado de enero de 2009 a diciembre 2012 en la Unidad de Diagnóstico Prenatal del Departamento de Obstetricia y Ginecología del Hospital Universitario Miguel Servet de Zaragoza, España. El estudio incluyó a todos los fetos con diagnóstico prenatal de persistencia de la vena cava superior izquierda establecido durante los controles gestacionales ecográficos. Resultados Se diagnosticaron 21 casos de persistencia de la vena cava superior izquierda entre las 20 y 35 semanas de embarazo. El 29% de los casos se detectó en la ecografía de las 20 semanas; 9 casos (43%) tuvieron anomalías cardiacas o extracardiacas asociadas y en 2 casos (10%) se encontró, además, trisomía 21, ambos con anomalías cardiacas asociadas. En 4 casos (19%) no hubo vena cava superior derecha. En los casos aislados la evolución fue favorable. Conclusiones Puesto que la persistencia de la vena cava superior izquierda se asocia, frecuentemente, con anomalías cardiacas y extracardiacas está justificada la ecografía morfológica fetal detallada y una ecocardiografía con posterior seguimiento antenatal. Si es aislada, la evolución obstétrica y el pronóstico perinatal serán favorables, como ha sucedido en los casos de persistencia de la vena cava superior izquierda aislados, con ausencia de vena cava superior derecha.

Abstract Objective To describe the associated anomalies and perinatal results in fetuses diagnosed with persistence of the left superior vena cava and to conduct a review of the literature. Materials and methods A descriptive, cross-sectional, retrospective study conducted between January 2009 and December 2012 in the Prenatal Diagnostic Unit of the Obstetrics and Gynecology Department at the Miguel Servet University Hospital in Zaragoza, Spain. The study included all fetuses with prenatal diagnosis of persistence of the left superior vena cava performed during gestational ultrasound controls in that period. Results 21 cases of persistence of the left superior vena cava were diagnosed between 20 and 35 weeks. Only 29% of the cases were detected on ultrasound at 20 weeks. 9 cases (43%) had associated cardiac or extracardiac anomalies and two cases (10%) associated trisomy 21, both with associated cardiac anomalies. In 4 cases (19%) there was an absence of right superior vena cava. In isolated cases, the evolution was favorable. Conclusions The presence of persistence of the left superior vena cava is frequently associated with cardiac and extracardiac abnormalities, so in the case of diagnosis, detailed fetal morphological ultrasound and echocardiogram are justified with subsequent antenatal follow-up. In the case of being isolated, it has an obstetric evolution and a favorable perinatal prognosis, results that were also presented in isolated persistence of the left superior vena cava cases with absence of right superior vena cava.

Oral Manifestations in Down Syndrome Patients: Clinical Evaluation of 104 Patients

Introduction Down syndrome is a frequent form of mental retardation associated with characteristic craniofacial features and many somatic abnormalities due to a number of chromosomal aberrations. The features of Down syndrome patients haven't been extensively studied in Indian scenario. Thus the present work, is an attempt done to study these children Objective To identify the orofacial changes and reason out the cause for the same and to compare the findings of Indian Down syndrome children with those recorded in literature. Materials and Methods A total of 104 non-institutionalized Down syndrome cases were selected on the basis of previous karyotyping records that were retrieved from the record of respected institutions. Results Most of the cases had palmer crease (80.7%), mucocutaneous manifestations (9.6%), hypothyroidism (5.76%), neuromuscular hypotonia (67.3%) and musculoskeletal abnormality (0.96%). Characteristic craniofacial findings, such as flat occiput, a flattened facial appearance, anteriorly and posteriorly flattened head, dysplastic ears, small nose, depressed nasal bridge, protruding tongue, and high-arched palate were noted. Dental abnormalities consisted of hypodontia (25.9%), microdontia (18.3%), crown variation (9.61%) and lastly supernumerary teeth (3.8%). There was a high prevalence of caries activity and periodontal diseases in these patients. There was increased prevalence of malalignments and class III malocclusion. Conclusion The prominent findings of flat nasal bridge, hypertelorism, high arched palate and fissured tongue in our study, could be used as reliable clinical markers to diagnose this condition. A further investigation is indicated in regard to comparison of children with Down syndrome with that of average normal children.