Repositório Institucional - Unifesp :: Navegando por Palavras-chave "Prenatal diagnosis"

Navegando por Palavras-chave "Prenatal diagnosis"

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Acesso aberto (Open Access)
Aplicações da ultra-sonografia tridimensional na avaliação do cerebelo fetal
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2007-06-01) Araujo Júnior, Edward [UNIFESP]; Guimarães Filho, Hélio Antonio [UNIFESP]; Pires, Claudio Rodrigues [UNIFESP]; Nardozza, Luciano Marcondes Machado [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
For the last years three-dimensional ultrasonography has become an imaging diagnosis method of great importance in obstetrics. One of its advantages would be the higher sensitivity compared with two-dimensional ultrasound in the diagnosis of some fetal malformations. The potential applications of this new method would be an improved accuracy in the measurement of fetal organs, the possibility of reviewing volumes in the absence of the patient, and using different planes to assess specific anatomical structures, as well as the capacity to transfer data files to remote reference centers. Ultrasonographic evaluation of fetal cerebellum is particularly important, since developmental alterations are correlated with the fetal growth alterations and congenital anomalies. The objective of this updating is to demonstrate the VOCAL and 3D XI methods in the evaluation of the fetal cerebellum, their potential benefits, and the latest information in the literature about this subject.
Acesso aberto (Open Access)
Avaliação crítica dos benefícios e limitações da ressonância magnética como método complementar no diagnóstico das malformações fetais
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2008-10-01) Ximenes, Renato Luis Da Silveira [UNIFESP]; Szejnfeld, Jacob [UNIFESP]; Ximenes, Andréa Regina Da Silveira; Zanderigo, Valdir; Universidade Federal de São Paulo (UNIFESP); Centro de Ultra-Sonografia e Medicina Fetal de Campinas; Cura
OBJECTIVE: The present study was aimed at evaluating by means of magnetic resonance imaging a series of fetuses with sonographic diagnosis of malformation, establishing the diagnostic benefits and limitations of fetal magnetic resonance imaging as compared with ultrasonography. MATERIALS AND METHODS: Forty women between 15-35 gestational weeks and previously diagnosed with fetal abnormality by ultrasonography were referred to undergo complementary fetal magnetic resonance imaging, particularly for evaluating abnormalities in the fetal central nervous system, thorax, abdomen, renal system, skeletal system, and tumors. The whole evaluation process included a review of the fetal ultrasonography and magnetic resonance images, postnatal follow-up, laboratory tests, imaging studies and necropsy. RESULTS: The present study has demonstrated that complementary magnetic resonance imaging did provide further information in 60% of cases, with the following benefits: improved information on the fetus as a whole, with a large field of view, higher anatomic resolution provided by fast sequences, superior soft tissue contrast resolution, besides the fact that the visualization of the fetus is not significantly affected by maternal obesity or oligohydramnios. Limitations of the method include contraindication in the first gestational trimester and in cases of maternal claustrophobia, sensitivity to fetal motion, low sensitivity for detecting cardiovascular and skeletal malformations. CONCLUSION: Fetal magnetic resonance imaging plays a significant role as a complementary method for the diagnosis of fetal anomalies.
Acesso aberto (Open Access)
Citomegalovirose congênita: relato de caso
(Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2005-12-01) Azevedo, Patrícia de Fátima; Souza, Alex Sandro Rolland de; Noronha Neto, Carlos; Lima, Marcelo Marques de Souza [UNIFESP]; Cardoso, Alexandre Silva; Porto, Ana Maria Feitosa; Instituto Materno Infantil Prof. Fernando Figueira IMIP; Universidade Federal de São Paulo (UNIFESP)
Congenital cytomegalovirus infection is an important clinical entity, due to its sonographic symptomatology. In Brazil, in utero diagnosis is not accomplished despite the improvements in diagnostic methods. We report a congenital infection including: splenomegaly and hepatomegaly, hypoplasia of the cerebellar vermis, intracranial calcifications, hyperechoic kidneys, hyperechoic bowel, cardiomegaly, lung hypoplasia, ascites, and pericardial effusion. Fetal magnetic resonance imaging confirmed the sonographic findings. Amniocentesis was performed for cytomegalovirus PCR in amniotic fluid, which confirmed fetal infection. Fetal loss occurred in the 31st week of pregnancy. Necropsy studies confirmed the sonographic findings. The diagnostic methods have been useful to confirm congenital cytomegalovirus infection and to establish fetal outcome.
Acesso aberto (Open Access)
Congenital dacryocystocele: diagnosis using ante and post-natal ultrasonography
(Conselho Brasileiro de Oftalmologia, 2014-08-01) Machado, Marco Antonio de Campos [UNIFESP]; Abreu Junior, Luiz de; Silva, João Amaro Ferrari [UNIFESP]; Allemann, Norma [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Grupo Fleury Setor de Radiologia
Congenital dacryocystocele is an unusual type of nasolacrimal obstruction. Treatment with antibiotics or surgical removal is practiced to reduce the risks of infection (acute dacryocystitis) and potentially lethal septicemia. Here, we report a case of congenital dacryocystocele, antenatal ultrasonographic diagnosis (intrauterine), and postnatal reassessment.
Acesso aberto (Open Access)
Diagnóstico pré-natal de rabdomioma cardíaco fetal pela ultrassonografia: relato de caso
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2009-06-01) Guimarães Filho, Hélio Antonio [UNIFESP]; Araujo Júnior, Edward [UNIFESP]; Pires, Claudio Rodrigues [UNIFESP]; Costa, Lavoisier Linhares Dias da; Nardozza, Luciano Marcondes Machado [UNIFESP]; Mattar, Rosiane [UNIFESP]; Centro de Treinamento em Imaginologia; Universidade Federal de São Paulo (UNIFESP); Centro de Treinamento em Ultra-sonografia
Cardiac tumors constitute a rare condition, affecting 0.17-28/10,000 of the general population. Rhabdomyomas represent the most frequently found type of tumor in the prenatal period. The present report describes the case of a 31-week fetus presenting with a large intracardiac tumor with severe clinical repercussions.
Acesso aberto (Open Access)
Diastrophic dysplasia: prenatal diagnosis and review of the literature
(Associação Paulista de Medicina - APM, 2013-04-01) Honório, Jonathan Celli; Bruns, Rafael Frederico; Gründtner, Luciana Fernandes; Raskin, Salmo; Ferrari, Lilian Pereira; Araujo Júnior, Edward [UNIFESP]; Nardozza, Luciano Marcondes Machado [UNIFESP]; Faculdades Integradas do Brasil (UniBrasil); Universidade Federal do Paraná (UFPR) Department of Gynecology and Obstetrics; Centro de Diagnósticos (CEDUS); Pontifícia Universidade Católica do Paraná (PUCPR) Health and Biosciences School (ESB) Graduate Program in Health Science (PPGCS); Faculdades Integradas do Brasil (UniBrasil) Biomedicine Course; Universidade Federal de São Paulo (UNIFESP)
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions) and mesomelia (shortening of the intermediate portions). Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR) and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.
Acesso aberto (Open Access)
DOPPLERVELOCIMETRIA DO DUTO VENOSO NO CÁLCULO DE RISCO PARA SÍNDROME DE DOWN NO PRIMEIRO TRIMESTRE DA GRAVIDEZ
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2002-01-01) Murta, Carlos Geraldo Viana; Ávila, Márcio Augusto Pinto de; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal do Rio de Janeiro; Universidade Federal de São Paulo (UNIFESP)
OBJECTIVE: To test the hypothesis that the application of ductus venosus Doppler velocimetry between 10--14 weeks gestation may serve as a screening tool for the detection of fetuses with Down syndrome and estimate a new criteria of risk. PATIENTS AND METHODS: 491 fetuses were studied consecutively. In 132 cases a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus, and in 359 cases the postnatal phenotype was used as a basis for the result. In addition to the routine ultrasonographic examination, all the fetuses were submitted to measurement of the nuchal translucency thickness. T student and ANOVA tests were used for the statistical analysis. The sensitivity, specificity, positive and negative predictive values, true-positive probability and likelihood ratio were calculated. RESULTS: There were 21 cases of Down syndrome. On these 21 fetuses the ductus venosus blood flow during atrial contraction was either absent (n = 3) or reversed (n = 17) - sensitivity = 95.2%. In the chromosomally normal fetuses (n = 470) only 8 had abnormal Doppler findings in the ductus venosus (specificity = 98.2%, positive and negative predictive values = 71.4% and 99.8%, respectively, and positive and negative likelihood ratio = 56 and 0.1, respectively). CONCLUSION: Our preliminary results suggest that the presence of Down syndrome may be strongly suspected when there is reverse or absent flow in the ductus venosus Doppler velocimetry during atrial contraction. We speculate the possibility of a new criteria to calculate the new risk of Down syndrome based on Doppler examination of the ductus venosus. Using the program of the Fetal Medicine Foundation to assess the baseline risk, a multiplying factor of approximately 0.1 (negative predictive value) is applied for normal ductus whereas a multiplying factor of 50 is applied in case of reverse or absent ductus, thus establishing a new adjusted risk factor.
Acesso aberto (Open Access)
Dopplervelocimetria no Rastreamento de Aneuploidias no Primeiro Trimestre da Gestação
(Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2001-06-01) Murta, Carlos Geraldo Viana [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Ávila, Márcio Augusto Pinto de; Universidade Federal de São Paulo (UNIFESP); Universidade Federal do Espírito Santo; Universidade Federal do Rio de Janeiro
Objective: to study the value of Doppler velocimetry of the ductus venosus and of the umbilical artery and vein, in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Patients and Methods: a total of 314 fetuses were studied consecutively. In 112 cases a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus, and in 202 cases the postnatal phenotype was used as a basis for the result. In addition to the routine ultrasonographic examination, all the fetuses were submitted to measurement of the nuchal translucency thickness and to Doppler velocimetry of the umbilical artery and vein, particularly of the ductus venosus. For statistical analysis the Fisher exact test and the Mann-Whitney test were used. Results: twenty-three cases of chromosomal abnormalities occurred. Of these abnormal cases, the ductus venosus blood flow during atrial contraction was absent (1 case) and reverse (22 cases), sensitivity was 92%. In the group of normal fetuses (289 cases), 6 evaluations demonstrated alterations in the Doppler of the ductus venosus (specificity of 97.6%, positive and negative predictive values of 76.7% and 93.3%, respectively); the false-positive rate was 2.4%. In reference to the umbilical vein and umbilical artery, there was no statistically significant difference between the abnormal and the normal group. Conclusion: The only parameter of Doppler velocimetry of the umbilical artery and vein which contributed to the detection of aneuploidies was the accidental discovery of the reverse blood flow in both vessels. Although our favorable results demonstrated that the Doppler velocimetry of the ductus venosus is effective in detecting aneuploidies, this conclusion, however, is preliminary and needs further investigation.
Acesso aberto (Open Access)
O impacto do diagnóstico pré-natal de anomalia fetal: estratégias de enfrentamento utilizadas pelas gestantes
(Universidade Federal de São Paulo (UNIFESP), 2016-12-23) Nunes, Tatiane Santos [UNIFESP]; Abrahão, Anelise Riedel [UNIFESP]; http://lattes.cnpq.br/5436329417654498; http://lattes.cnpq.br/9059158573002828; Universidade Federal de São Paulo (UNIFESP)
Introdução: Com o desenvolvimento de técnicas de avaliação fetal, o estabelecimento de um diagnóstico pré-natal de anomalia fetal passou a ser uma realidade. Com as possibilidades diagnósticas, surge a preocupação quanto ao impacto deste, tanto para a gestante quanto para sua família. A notícia de uma anomalia fetal pode gerar um estado de ?estresse pós-traumático?, por apresentar uma resposta imediata ou tardia frente a uma situação ou evento estressante, e os modos de enfrentamento estão estreitamente ligados ao estresse subjetivo gerado nas gestantes diante do diagnóstico de malformação fetal, tanto com prognóstico de viabilidade como de inviabilidade. Objetivo: Identificar o impacto do diagnóstico de anomalia fetal e as formas de enfretamentos utilizadas pelas gestantes diante deste evento estressor, e comparar as estratégias de enfrentamento mediante ao diagnóstico de anomalia fetal viável e inviável. Metodologia: Trata-se de um estudo transversal de análise quantitativa, desenvolvido em um ambulatório de Medicina Fetal na cidade de São Paulo (SP), entre janeiro de 2014 e janeiro de 2015. A amostra foi composta por 120 gestantes com diagnóstico de malformação fetal subdivididas em dois grupos: fetos viáveis e inviáveis. A coleta de dados foi realizada em duas etapas, a primeira na admissão da gestante no ambulatório, após ter assinado o Termo de Consentimento Livre e Esclarecido (TCLE), e a segunda, após ter passado pela consulta de aconselhamento genético reprodutivo e por pelo menos dois atendimentos psicoprofiláticos. Utilizaram-se como instrumentos de pesquisa o questionário para obtenção dos dados socioeconômicos e demográficos, e o inventário de coping. Testes qui quadrado, teste Exato de Fisher ou razão de verossimilhança foram utilizados para comparar as variáveis categóricas entre viável/inviável. O teste t de Student foi usado para comparar as variáveis contínuas entre viável e inviável, e, quando necessária, foi usada a análise de variância. Resultados: Identificaram-se 50,8% das mulheres de cor branca; 58,3% eram casadas ou em união estável; 59,2% tinham Ensino Médio; 47,8% eram católicas; e 55,8% se referiram como do lar. Quanto às estratégias de enfrentamento, foi possível verificar o suporte social (fator 4) como o fator de coping mais usado pelas gestantes, seguido da reavaliação positiva (fator 8), no qual as estratégias que mais se destacaram foram ?Procurei ajuda profissional? e ?Rezei?. O fator menos usado foi aceitação da responsabilidade (fator 5). Quando comparado os dois grupos, encontrou-se uma diferença significativa com maior escore da estratégia autocontrole (fator 5) nas gestantes com diagnóstico de inviabilidade fetal do que as gestantes com fetos viáveis. Conclusão: As gestantes que receberam o diagnóstico de anomalia fetal utilizaram mais as estratégias focadas no suporte social e na reavaliação positiva. Chamou atenção a tendência ao autocontrole verificada no grupo de gestantes com fetos inviáveis.
Acesso aberto (Open Access)
Influência dos marcadores ultra-sonográficos de segundo trimestre no risco de síndrome de Down em gestantes com idade materna avançada
(Universidade Federal de São Paulo (UNIFESP), 2005) Kataguiri, Mariza Rumi [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Objetivos: Avaliar a associação de alguns marcadores ultra-sonográficos de segundo trimestre com a síndrome de Down em gestantes com idade materna avançada que realizaram estudo cromossômico fetal por meio da amniocentese, além de procurar associação entre a presença de malformações estruturais fetais detectadas no ultra-som com essa aneuploidia. Métodos: Analisamos 889 casos consecutivos submetidos à coleta de amniocentese e enviados ao laboratório de citogenética do Centro Paulista de Medicina Fetal, no período de janeiro de 1998 a dezembro de 2003. As amostragens foram realizadas por via transabdominal, com agulha de calibre 20 Gauge, sob monitorização ultra-sonográfica contínua, em idades gestacionais que variaram de 14 a 30 semanas, com média de 17,7 semanas (± 3,1) para os casos com síndrome de Down e 17,3 semanas (± 2,4) para os fetos cromossomicamente normais. As indicações foram por idade materna avançada somente ou pela presença de marcadores ultra-sonográficos nesse grupo de pacientes, em que a idade no momento da coleta variou de 35 a 47 anos, com média de 38,8 anos (± 2,9) para as 31 gestantes portando fetos com síndrome de Down e 38,6 anos (± 2,6) para as 858 gestantes com fetos cromossomicamente normais. Aconselhamento genético e exame ultra-sonográfico genético antecederam a realização da amniocentese (aparelhos Synergy e Logic 500 GE), incluindo análise da biometria fetal na procura por malformações estruturais e por marcadores ultrasonográficos (prega nucal ≥ 6 mm, foco hiperecogênico intracardíaco, hiperecogenicidade intestinal, cisto de plexo coróide, ossos curtos, ventriculomegalia discreta, pielectasia renal bilateral, artéria umbilical única, alteração de extremidades fetais). Resultados: 758 exames de amniocenteses foram realizados devido à idade materna avançada e 131, por idade materna avançada e presença de marcadores ultra-sonográficos. Desses, 3,5% apresentaram trissomia do cromossomo 21, sendo 61,3% desses casos tinham a amniocentese indicada pela presença de marcadores ultra-sonográficos, e 38,7% somente por idade materna avançada. O marcador ultrasonográfico mais freqüente e que mostrou maior associação com a síndrome de Down foi prega nucal aumentada (35,9%), seguida de foco hiperecogênico cardíaco e malformação fetal estrutural. A medida de fêmur curto só foi importante se junto a outros marcadores no mesmo feto. Outros marcadores estudados não foram associados fortemente com essa trissomia. A malformação estrutural esteve presente em 24,4% dos fetos sindrômicos e a alteração mais comum foi a presença de higroma cístico. Conclusão: A presença de marcadores ultra-sonográficos de segundo trimestre influencia no aumento do risco para síndrome de Down. Em nosso estudo, a presença de dois marcadores é necessária para aumentar seu rastreamento e a prega nucal é o marcador mais sensível e mais associado com essa síndrome. Não se discute a importância da presença dos marcadores durante o ultra-som genético de segundo trimestre para afastar o risco de síndrome de Down, mas, em população de gestantes com idade materna avançada, esse exame não substitui a pesquisa de cariótipo fetal pela amniocentese.
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Noninvasive Determination of Fetal Rh Blood Group, D Antigen Status by Cell-Free DNA Analysis in Maternal Plasma: Experience in a Brazilian Population
(Thieme Medical Publ Inc, 2010-11-01) Chinen, Paulo Alexandre [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Martinhago, Ciro Dresch; Camano, Luiz [UNIFESP]; Daher, Silvia [UNIFESP]; Silva Pares, David Baptista da [UNIFESP]; Minett, Thais [UNIFESP]; Araujo Junior, Edward [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); RDO Med Diag
We evaluated the diagnostic accuracy of Rh blood group, D antigen (RHD) fetal genotyping, using real-time polymerase chain reaction in maternal blood samples, in a racially mixed population. We performed a prospective study conducted between January 2006 and December 2007, analyzing fetal RHD genotype in the plasma of 102 D-pregnant women by real-time polymerase chain reaction, targeting exons 7 and 10 of the RHD gene. Genotype results were compared with cord blood phenotype obtained after delivery or before the first intrauterine transfusion when necessary. Most of the participants (75.5%) were under 28 weeks of pregnancy, and 87.5% had at least one relative of black ancestry. By combining amplification of two exons, the accuracy of genotyping was 98%, sensitivity was 100%, and specificity was 92%. the positive likelihood ratio was 12.5, and the negative likelihood ratio was 0. the two false-positive cases were confirmed to be pseudogene RHD by real-time polymerase chain reaction. There were no differences between the patients with positive or negative Coombs test (p = 0.479). Determination of fetal RHD status in maternal peripheral blood was highly sensitive in this racially mixed population and was not influenced by the presence of antierythrocyte antibodies.
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Prediction of lethal pulmonary hypoplasia among high-risk fetuses via 2D and 3D ultrasonography
(Elsevier B.V., 2013-10-01) Rezende, Guilherme de Castro; Pereira, Alamanda Kfoury; Araujo Junior, Edward [UNIFESP]; Nogueira Reis, Zilma Silveira; Vieira Cabral, Antonio Carlos; Universidade Federal de Minas Gerais (UFMG); Universidade Federal de São Paulo (UNIFESP)
Objective: To compare accuracy between 3D and 2D ultrasonography for predicting lethal pulmonary hypoplasia (LPH) among high-risk fetuses. Methods: in a cross-sectional prospective study at a fetal medicine referral center in Brazil, bilateral fetal lung scans were evaluated for 54 fetuses with suspected LPH between May 2008 and June 2011. Measurements for predicting LPH were ultrasonographic fetal lung volume/estimated fetal weight ratio (US-FLW), observed/expected thoracic circumference (o/e-TC), observed/expected thoracic circumference/abdominal circumference (o/e-TC/AC), observed/expected thoracic area/heart area (o/e-TA/HA), observed/expected amniotic fluid index (o/e-AFI), and observed/expected total fetal lung volume (o/e-Tot-FLV). To evaluate accuracy in predicting LPH, receiver operating characteristic (ROC) curves were calculated, and areas under the curves (AUCs) were compared. the intraclass correlation coefficient (ICC) was used to assess 3D lung volume reproducibility. Results: Data were compared for 47 newborns, of whom 34 had LPH (perinatal mortality 74.5%). the AUCs for predicting LPH were 0.93, 0.69, 0.55, 0.46, 0.71, and 0.86 for US-FLW, o/e-TC, o/e-TC/AC, o/e-TA/HA, o/e-AFI, and o/e-Tot-FLV, respectively. No significant intraobserver difference was observed in measurements of the right (ICC, 0.973; P < 0.0001) or left (ICC, 0.950; P < 0.0001) lung volumes. Conclusion: Among high-risk fetuses, US-FLW by 20/3D and o/e-Tot-FLV by 3D ultrasonography were more accurate than 20 parameters for predicting LPH. (C) 2013 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.
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Prenatal diagnosis of bladder exstrophy by fetal MRI
(Elsevier B.V., 2013-02-01) Goldman, Susan [UNIFESP]; Szejnfeld, Patricia Oliveira [UNIFESP]; Rondon, Atila [UNIFESP]; Francisco, Viviane Vieira [UNIFESP]; Bacelar, Herick [UNIFESP]; Leslie, Bruno [UNIFESP]; Barroso, Ubirajara [UNIFESP]; Ortiz, Valdemar [UNIFESP]; Macedo, Antonio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Purpose: To review our experience with prenatal diagnosis of bladder exstrophy by fetal magnetic resonance imaging (MRI). Bladder exstrophy can be diagnosed by ultrasonography (US) evaluation of the fetus based on absence of bladder filling, low-set umbilicus, small genitalia and lower abdominal mass, although in some instances more accurate anatomical information is desired.Material and methods: We studied three patients at mean gestational age of 27.3 weeks. the fetal MRI exam was performed on axial, sagittal, coronal planes and echo gradient in the best plan for acquisition of fetus. Images were analyzed by a group of three radiologists with experience in fetal MRI.Results: the MRI defined a lower abdominal mass prolapsing below the umbilical vessels, having the ureters ending on it in an anterior position. A cloacal malformation or a cloacal exstrophy could be excluded, as well as other accompanying spinal abnormalities. the renal system and oligohydramnios could be well documented.Conclusions: the MRI showed a detailed scenario of the abnormality with advantages over the US evaluation in regard to excluding cloacal anomalies. MRI allowed accurate sexual differentiation and may be indicated after suspected bladder exstrophy on US evaluation. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier B.V. All rights reserved.
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Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation
(Springer, 2013-01-01) Rezende, Guilherme de Castro; Pereira, Alamanda Kfoury; Nogueira Reis, Zilma Silveira; Parola, Aluana Rezende; Bastos, Fernando Macedo; Araujo Junior, Edward [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Vieira Cabral, Antonio Carlos; Universidade Federal de Minas Gerais (UFMG); Minist Educ Brazil; Universidade Federal de São Paulo (UNIFESP)
Congenital syngnathia is a maxillomandibular fusion, and it can vary in severity from single mucosal bands (synechiae) to complete bony fusion (synostosis). Cases of combinations of bony or soft tissue adhesions between the mandible and maxilla with cleft of the lip or palate, aglossia, popliteal pterygium, and van der Woude syndrome have been reported. It is a very rare condition, with only one case report of prenatal diagnosis using two-dimensional ultrasound in the literature. We present the first case of prenatal diagnosis of congenital syngnathia by three-dimensional ultrasound and the postnatal pathology correlation.
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Prenatal diagnosis of intracranial immature teratoma in the third trimester using 2D and 3D sonography
(Springer, 2013-01-01) Moreira Rios, Livia Teresa; Araujo Junior, Edward [UNIFESP]; Nacaratto, Daniela Cristina [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Martins, Marilia da Gloria; Fed Univ Maranhao UFMA; Universidade Federal de São Paulo (UNIFESP)
Intracranial tumors are uncommon and represent 0.5-1.5 % of all pediatric tumors. Teratoma is the most frequent intracranial tumor found at birth. Large teratomas are extremely rare and have a guarded prognosis since they grow fast and cause brain tissue destruction. A 31-week primigravida was referred to our hospital for investigation of an intracranial mass seen in the fetus. Two-dimensional ultrasound showed a large heterogeneous solid mass with calcifications inside, measuring 5.3 x 4.8 cm. It was in the right cerebral hemisphere at the level of the middle and posterior fossa, thereby shifting the midline and causing severe ventriculomegaly that measured 3.5 cm at the level of the lateral ventricle. Three-dimensional ultrasound (3DUS) in multiplanar mode allowed us to assess the anatomical relationships between the mass and the midline structures. the neurosurgical team, who had suspected that the case was inoperable, was thus able to gain a better understanding of the case. Transfontanellar ultrasound was performed on the day after the birth and confirmed the previous findings. Moreover, a biopsy confirmed the histology of the mass: it was an immature teratoma. the infant died on the 24th day of life after a large expansion of head circumference. Intracranial teratomas are extremely severe because of their quick growth and mass effect, often leading to neonatal death within days. 3DUS is a new prenatal diagnostic method that makes it possible to assess the anatomical relationships between the mass and the intracranial structures, thus enabling better preoperative planning.
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Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation
(Springer, 2012-10-01) Moreira Rios, Livia Teresa; Araujo Junior, Edward [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Bruns, Rafael Frederico; Moron, Antonio Fernandes [UNIFESP]; Martins, Marilia da Gloria; Universidade Federal de São Paulo (UNIFESP); Fed Univ Maranhao UFMA; Universidade Federal do Paraná (UFPR)
Nager syndrome or acrofacial dysostosis is a rare and complex malformation characterized by ear anomalies, micrognathia, radial limb hypoplasia, and absence of the thumb or other fingers. Since the original description of the syndrome in 1948, there have only been four reports of prenatal diagnoses in the literature, all during the second trimester, and only two of them had anatomopathological correlations. We describe a case of Nager syndrome that was suspected in the third trimester of gestation and confirmed postnatally through pathology. the mother was white, 27 years old, and G5P2A2, with a family history of a brother with a harelip. She was referred to our service at 33 weeks of pregnancy with an ultrasound fetal diagnosis of musculoskeletal dysplasia associated with severe micrognathia and severe polyhydramnios. Birth was by means of cesarean section because of suspected fetal distress, which resulted in extraction of a live male fetus with Apgar 1/4, weight of 1,505 g, severe mandibular hypoplasia, low-set ears, severe upper-limb shortening, and absent left thumb. Death occurred 4 h after birth. Anatomopathological examination confirmed the diagnosis of Nager syndrome.
Acesso aberto (Open Access)
Rânula congênita: diagnóstico ultrassonográfico antenatal
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2012-10-01) Rios, Livia Teresa Moreira; Araujo Júnior, Edward [UNIFESP]; Nardozza, Luciano Marcondes Machado [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Martins, Marília Da Glória; Universidade Federal do Maranhão Serviço de Ginecologia e Obstetrícia; Universidade Federal de São Paulo (UNIFESP)
A congenital ranula is a rare cystic malformation seen in the oral cavity. This pseudocyst is normally located in the sublingual space between the mylohyoid muscle and the lingual mucosa. A 24-year-old woman, gravida 3, para 2, at 29 weeks' gestation was referred to our institution because of polihydramnios and large oral mass.
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Repercussões maternas do diagnóstico pré-natal de anomalia fetal
(Univ Fed Sao Paulo, Dept Enfermagen, 2016) Nunes, Tatiane Santos [UNIFESP]; Abrahão, Anelise Riedel [UNIFESP]; http://lattes.cnpq.br/9059158573002828; http://lattes.cnpq.br/5436329417654498
Resumo Objetivo: Comparar modos de enfrentamento mediante diagnóstico pré-natal de anomalia fetal viável e inviável. Métodos: Estudo transversal de análise quantitativa em 120 gestantes realizado em centro de referência de medicina fetal, de janeiro a dezembro de 2014. Os dados foram obtidos por meio de entrevista semiestruturada contendo características sociodemográficas; antecedentes pessoais e obstétricos; e aplicação do inventário de estratégias de enfrentamento de coping. Teste qui quadrado, teste exato de Fisher ou razão de verossimilhança foram utilizados para comparar variáveis categóricas entre malformação viável e inviável. O teste t de Student foi usado para variáveis contínuas e quando necessária, foi aplicada a Análise de Variância. Resultados: Houve diferença significativa da estratégia autocontrole entre as gestantes com diagnóstico de inviabilidade fetal e as com fetos viáveis. Conclusão: As gestantes com diagnóstico de anomalia fetal inviável apresentaram maior tendência à estratégia de autocontrole que as com feto viável.
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Should We Measure Fetal Omphalocele Diameter for Prediction of Perinatal Outcome?
(Karger, 2014-01-01) Kiyohara, Marina Y.; Brizot, Maria L.; Liao, Adolfo W.; Francisco, Rossana P. V.; Tannuri, Ana C. A.; Krebs, Vera L. J.; Zugaib, Marcelo [UNIFESP]; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
Objective: To evaluate the fetal omphalocele diameter/abdominal circumference ratio (OD/AC) as a predictor of adverse perinatal outcome. Methods: Analysis involving 47 singleton pregnancies with fetal omphalocele, normal karyotype and absence of other major abnormalities. the OD/AC ratio was determined antenatally by ultrasound and the best cutoff for the prediction of neonatal death was determined by receiver operating characteristic curve analysis. Additional secondary outcomes included need for oral intubation in the first 24 h of life, two-step surgery or use of synthetic mesh, reoperation, parenteral feeding and need for respiratory assistance >21 days, time to first oral feed, and time to hospital discharge. Results: Fetal OD/AC did not change significantly with gestational age. Postnatal death occurred in 10 (21.3%) cases and the best cutoff for prediction was an OD/AC ratio >= 0.26 in pregnancies with the first ultrasound evaluation performed before 31 weeks' gestation and an OD/AC >= 0.26, the likelihood ratio for needing intubation in the first 24 h of life was 2.6 (95% CI: 1.2-5.7), needing two-step surgery or use of mesh was 4.9 (95% Cl: 1.9-14.4), and postnatal death was 4 (95% Cl: 1.9-7.5). Conclusion: A fetal ultrasound OD/AC ratio >= 0.26 is associated with increased postnatal morbidity and mortality. (C) 2013 S. Karger AG, Basel
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Transtorno de estresse pós-traumático em gestantes com diagnóstico de anomalias congênitas
(Universidade Federal de São Paulo (UNIFESP), 2016) Aguiar, Michelle Alves Viana [UNIFESP]; Abrahão, Anelise Riedel [UNIFESP]; http://lattes.cnpq.br/5436329417654498; http://lattes.cnpq.br/4571206311787505; Universidade Federal de São Paulo (UNIFESP)
Objective: To evaluate the symptoms of post-traumatic stress disorder (PTSD) in pregnant women with congenital anomaly. Methods: Quantitative study with cross-correlational design. The sample consisted of 111 pregnant women diagnosed with viable and unviable congenital anomaly met in Fetal Medicine Clinic of the Universidade Federal de São Paulo (UNIFESP), from november 2013 to november 2014. The instruments used for data collection were a semi-structured questionnaire and a Likert scale, Impact of Events Scale - Revised (IES-R). For statistical analysis the following tests were used: Qui-square test for categorical variables; Student’s t or Mann-Whitney test for comparisons of continuous variables; the Cronbach Alpha coefficients and Pearson correlation in the areas that make up the scale IES-R; simple linear regression models we used to assess jointly the effect of time of receiving the diagnosis of viable and unviable congenital anomalies, along with the total score and domains of IES-R scale. Results: Viable congenital anomalies corresponded to 66.6% of cases and unviable to 33.3%. Among all cases of congenital anomalies, 27% were related to the nervous system, 24.3% to circulatory and 19.8% to urinary. Unviable congenital anomalies were anencephaly (35.1%) and related to the urinary (27%) and respiratory (24.3%). systems. The most frequent viable congenital anomalies were in nervous (31.1%) and circulatory systems (27%). The diagnosis of congenital anomalies has been established in the second trimester (77.5%). In order to compare the symptoms of PTSD in pregnant women with viable and unviable congenital anomaly, the statistical analysis found that the average of all areas of IES-R (avoidance, intrusion and hyperarousal), as well as the sum of matters concerning IES-R were high in all pregnant women diagnosed with congenital anomaly, however it was higher in pregnant women diagnosed with congenital anomaly unfeasible. Using a cut of 5.6 units in the total score of the IES-R, we found that 46.8% of all pregnant women diagnosed with congenital anomaly showed symptoms of PTSD, but the symptoms were more frequent among pregnant women diagnosed with unviable congenital anomaly (64.9%) than among those with viable fetuses (37.8%). Evaluating the correlation between the domains of the IES-R scale, we noted that the intrusion issues and hyperstimulation were more correlated than the avoidance domain. Among pregnant women diagnosed with both viable and unviable congenital anomaly, we observed a decreasing relationship with the symptoms of PTSD in relation to the time the news of the diagnosis of congenital anomalies was informed. Conclusion: The symptomatology of PTSD was present in pregnant women with both viable and unviable congenital anomaly. PTSD can cause immediate and long-term impact on pregnant women with such diagnoses.

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