Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21

Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; Silva, André Anjos da; Magalhães, José Antônio de Azevedo

doi:10.1590/s0100-720320150005373

Cited by 15 publications

(16 citation statements)

References 28 publications

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“…Patients with trisomy 18 can present with multiple renal complications including duplication of urinary tract (25%), horseshoe kidney (17%-21%), cystic kidney disease (8%-17%), congenital hydronephrosis (5%-15%), ectopic kidney (10%), renal dysplasia (2%-7%), obstructive genitourinary defect (2%), and hypospadias/epispadias (1%) (Egli & Stalder, 1973;Emer et al, 2015;Niedrist et al, 2006;Pont et al, 2006;Springett et al, 2015). Of those patients, 80% will have persistent clinical manifestations (Bruns & Campbell, 2014).…”

Section: Genitourinarymentioning

confidence: 99%

“…One of the more common gastrointestinal (GI) complications in trisomy 18 is omphalocele, affecting 6%-39% of infants with trisomy 18 (Emer et al, 2015;Meyer et al, 2016;Niedrist et al, 2006).…”

Section: Abdominal and Feedingmentioning

confidence: 99%

“…The most F I G U R E 1 Representative facial, head, and hand features in a child with trisomy 18, from infancy through early adulthood. Images used with permission of the Wilson family [Color figure can be viewed at wileyonlinelibrary.com] common cardiac structural issues associated with trisomy 18 are ventricular septal defects (VSDs) (31%-94%), patent ductus arteriosus (39%-77%), and atrial septal defects (11%-68%) (Emer et al, 2015;Imataka et al, 2016;Kosho et al, 2013;Lin et al, 2006;Maeda et al, 2011;Niedrist et al, 2006;Pont et al, 2006;Springett et al, 2015;Taylor, 1968). Other less common cardiac malformations include coarctation of the aorta (3%-18%), double outlet right ventricle (14%), atrioventricular septal defects (9%), endocardial cushion defect (3%-7%), tricuspid atresia (5%), tetralogy of Fallot (3%-4%), transposition of the great arteries (3%), and hypoplastic left heart (2%-3%) (Imataka et al, 2016;Lin et al, 2006;Maeda et al, 2011;Niedrist et al, 2006;Pont et al, 2006;Springett et al, 2015;Taylor, 1968).…”

mentioning

confidence: 99%

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Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life‐threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

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Section: Genitourinarymentioning

confidence: 99%

Section: Abdominal and Feedingmentioning

confidence: 99%

mentioning

confidence: 99%

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Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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“…Esses indivíduos podem apresentar ainda diversas outras patologias, como hidrocefalia, hipoplasia cerebelar, atresia do duodeno, onfalocele, e anomalias no rim e no trato urinário. Dentre as principais anomalias renais e urinárias encontramos: glomerulonefrite, agenesia renal, microcistos, rins ectópicos, hidronefrose e hidroureter, válvulas uretrais posteriores e obstrução da região anterior uretra, bem como hipospádia (EMER, et al, 2015;MORA-BAUTISTA, 2018). O caso corrobora a presença de outras doenças, visto que a criança apresenta malformação renal, pieloectasia à direita, Brazilian Journal of Health Review, Curitiba, v.4, n.6, p. 24920-24930 nov./dec.…”

Section: Relato De Casounclassified

Síndrome de Down e cardiopatias congênitas: um relato de caso/ Down syndrome and congenital heart disease: a case report

Santos¹,

Carvalho²,

Santos³

2021

Braz. J. Hea. Rev.

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RESUMOA Síndrome de Down é uma anomalia cromossômica, em que há 3 cromossomos 21. Ela resulta em alterações fenotípicas e manifestações sistêmicas do tipo hipotonia muscular, cardiopatia congênita, diminuição da imunidade, distúrbios gastrointestinais, obesidade, atraso no desenvolvimento psicomotor e problemas neurológicos, auditivos e visuais. Esse trabalho irá descrever um relato de caso de uma criança que nasceu com múltiplas cardiopatias congênitas, por meio de um estudo de delineamento descritivo, de caráter narrativo e reflexivo, com a utilização de seu prontuário na Unidade Básica de Saúde do Nova Floresta em Patos de Minas. Os dados obtidos foram reunidos e analisados, servindo de base para montagem de um caso clínico, com o objetivo de ser publicado em revistas médicas.

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“…Among abnormalities, we can highlight as incompatible with the fetal abnormalities some neural, cardiac, abdominal closure errors, bone dysplasias and trisomies involving chromosomes 13 and 18, these being the most frequently diagnosed (2)(3) .…”

Section: Introductionmentioning

confidence: 99%

Fetal abnormality with possibility of legal termination: maternal dilemmas

et al. 2019

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Objective:To identify maternal dilemmas about the diagnosis of fetal abnormality incompatible with life. Method: The exploratory-descriptive qualitative method was used. Eight women participated in the research between September/2016 and January/2017 through semi-structured interviews. The data were analyzed from the thematic analysis together with the ATLAS.ti software. Results: The experiences of this study were based on suffering and emotions. The termination choice was based on personal factors of women and families, such as information on pathology and religion. Diagnoses of incompatible fetal abnormalities bring the most different feelings to those involved. It is extremely important to establish a clear communication between woman, family and interdisciplinary team in the course of gestation and delivery, with elucidation about prognosis and therapeutic possibilities. Final considerations: It was visualized the importance of embracement, communication and treatment given by the multiprofessional health team. RESUMOObjetivo: Identificar os dilemas maternos sobre o diagnóstico de malformação fetal incompatível com a vida. Método: Utilizou-se o método qualitativo do tipo exploratório-descritivo. Oito mulheres participaram da pesquisa no período entre setembro/2016 e janeiro/2017 através de entrevistas semiestruturadas. Os dados foram analisados a partir da análise temática juntamente à ferramenta de software ATLAS.ti. Resultados: As experiências deste estudo foram pautadas por sofrimento e emoções. A escolha da interrupção esteve alicerçada a fatores pessoais das mulheres e famílias, como informação da patologia e religião. Os diagnósticos de malformações fetais incompatíveis trazem os mais diferentes sentimentos aos envolvidos. É de extrema importância que se estabeleça uma comunicação transparente entre mulher, família e equipe interdisciplinar no transcorrer da gestação e parto, com elucidação quanto ao prognóstico e as possibilidades terapêuticas. Considerações finais: Visualizou-se a importância do acolhimento, comunicação e tratamento dado pela equipe multiprofissional de saúde. RESUMENObjetivo: Identificar los dilemas maternos sobre el diagnóstico de malformación fetal incompatible con la vida. Método: Se utilizó el método cualitativo del tipo exploratorio-descriptivo. Ocho mujeres participaron de la investigación en el período entre septiembre/2016 y enero/2017 a través de entrevistas semiestructuradas. Los datos se analizaron a partir del análisis temático junto a la herramienta de software ATLAS.ti. Resultados: Las experiencias de este estudio fueron pautadas por sufrimiento y emociones. La elección de la interrupción estuvo basada en factores personales de las mujeres y las familias, como información de la patología y la religión. Los diagnósticos de malformaciones fetales incompatibles traen los más diferentes sentimientos a los involucrados. Es de extrema importancia que se establezca una comunicación transparente entre mujer, familia y equipo interdisciplinario en el transcurso de la gestación y...

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Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21

Cited by 15 publications

References 28 publications

Surveillance guidelines for children with trisomy 18

Surveillance guidelines for children with trisomy 18

Síndrome de Down e cardiopatias congênitas: um relato de caso/ Down syndrome and congenital heart disease: a case report

Fetal abnormality with possibility of legal termination: maternal dilemmas

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