Aproximación diagnóstica ultrasonográfica prenatal al síndrome de Omenn: reporte de caso / Prenatal ultrasound diagnostic approach to Omenn syndrome: case report

Objetivo: reportar el caso de una gestante con diagnóstico ultrasonográfico de alteración del sistema tegumentario fetal y diagnóstico posnatal de síndrome de Omenn. Presentación de caso: se presenta el caso de paciente de 27 años con embarazo de 31 semanas, con exploración ultrasonográfica prenatal que evidencia feto con edema significativo del cuero cabelludo, líquido amniótico ecogénico y descamación de la piel abdominal, con aproximación diagnóstica ultrasonográfica de variante de ictiosis. El recién nacido presentó eritrodermia congénita complicada con infección de piel, con posterior choque séptico y muerte. El estudio genético y patológico concluye síndrome de Omenn. Conclusión: el síndrome de Omenn debe ser tomado en cuenta en los diagnósticos diferenciales cuando en la ultrasonografía prenatal existan hallazgos ultrasongráficos de una alteración del sistema tegumentario. Se requieren estudios que evalúen la exactitud del ultrasonido en el diagnóstico antenatal de las eritrodermias.

Objective: To report the case of a pregnant woman with ultrasound diagnosis of altered fetal tegumental system and postnatal diagnosis of Omenn syndrome. Case presentation: A 27-year-old patient who presented at 31 weeks of gestation with prenatal ultrasound evidence of a fetus with significant scalp edema, echogenic amniotic fluid and scaly abdominal skin, with ichtyosis variant impression on diagnostic ultrasound. The baby was born with congenital erythroderma complicated with skin infection, and later developed septic shock and died. The genetic and pathologic workup led to the conclusion of Omenn syndrome. Conclusion: Omenn syndrome must be considered as part of the differential diagnoses when prenatal ultrasound shows findings of altered tegument system. Studies are required to assess the accuracy of ultrasound for prenatal diagnosis of erythroderma.

Fetal echocardiography indications and lack of association between abnormal exams and advanced maternal age: A cross-sectional study - Fetal abnormal echocardiography / Indicações para realização de ecocardiografia fetal e ausência de associação entre exames alterados e idade materna avançada: Um estudo transversal - Ecocardiografia fetal anormal

Abstract Objective To analyze the most frequent referrals for fetal echocardiography, including advanced maternal age and its association with abnormal results. Methods We included all pregnant women referred to perform fetal echocardiography (gestational age 22-32 weeks) in 2 health centers in Rio de Janeiro, from June 2015 to June 2016. Advanced maternal age was considered when age was > 35 years at the time of delivery). Referral reasons and results were recorded, according to the Brazilian Fetal Cardiology Statement. Crude and adjusted prevalence ratios were calculated (Poisson regression). We considered p < 0.05 as significant. Results A total of 1,221 tests were analyzed. Abnormal fetal echocardiography was observed in 14.82% of the cases. The most frequent abnormalities were interventricular septal defect (6.39%), septal hypertrophy (3.35%) and atrioventricular septal defect (1.14%). Routine exams were performed in 559 women, 289 were referred for advanced maternal age and 373 were referred according to the Brazilian FetalCardiology Statement criteria. An obstetric ultrasound suggesting fetal cardiacabnormality, maternal diabetes, increased nuchal translucency, and obstetric ultrasound suggesting a noncardiac abnormality were strongly associated with an abnormal fetal echocardiography. Abnormal results were not more frequent in women with advanced maternal age when compared with the rest of the study group. Conclusions It was observed that routine exams and advancedmaternal age referrals were very frequent. Those exams were not associated to fetal echocardiography abnormalities. In this scenario, when the obstetric ultrasound suggests a fetal cardiac

Resumo Objetivo Analisar as indicações mais frequentes para realização de ecocardiografia fetal, incluindo idade materna avançada, e a associação destas com exames alterados. Métodos Foram incluídas todas as gestantes que realizaram ecocardiografia fetal na idade gestacional entre 22 e 32 semanas, em 2 centros de referência no Rio de Janeiro, no período de junho de 2015 a junho de 2016. Foi considerada idadematerna avançada se no momento do parto a idade materna fosse> 35 anos. As indicações e os resultados dos exames foram registrados, segundo a Diretriz Brasileira de Cardiologia Fetal. Foramcalculadas as razões de prevalência brutas e ajustadas através da regressão de Poisson, considerando-se p < 0,05. Resultados Um total de 1.221 exames foram analisados. A frequência de exame ecocardiográfico alterado foi 14,82%. As alterações mais frequentes foram defeito do septo interventricular (6,39%), hipertrofia septal (3,35%) e defeito do septo atrioventricular (1,14%). Quinhentos e cinquenta e nove exames foram realizados com indicação de rotina, 289 por idade materna avançada e 373 preenchiam critério de acordo com a Diretriz Brasileira de Cardiologia Fetal. O exame ecocardiográfico alterado foi associado ao ultrassom obstétrico sugerindo cardiopatia fetal, ao diabetes materno, à translucência nucal aumentada e ao ultrassom obstétrico sugerindo alteração extracardíaca. Não foi observada maior frequência de exame ecocardiográfico alterado nas gestantes com idade materna avançada, comparado ao restante da amostra. Conclusão Constatou-se elevada frequência de indicações de rotina, e por idade materna avançada isoladamente, que não foram associados a alterações da ecocardiografia fetal. Em nosso meio, quando o ultrassom obstétrico sugere cardiopatia fetal, é muito provável que a ecocardiografia fetal tambémseja anormal. Portanto, o ultrassom obstétrico é um bom método de rastreio pré-natal.

Prevalence and association of congenital anomalies according to the maternal body mass index: cross-sectional study / Prevalência e associação de anomalias congênitas de acordo com índice de massa corporal materno: estudo transversal

Abstract Objective To evaluate and compare the prevalence of structural congenital anomalies (CAs) according to maternal body mass index (BMI). Methods The present cross-sectional study involved pregnant women with fetuses diagnosed with structural CAs through morphological ultrasonography between November 2014 and January 2016. The nutritional status of the pregnant women was classified according to the gross value of the body mass index. The pregnant women were categorized into four groups: low weight, adequate weight, overweight, and obesity. Statistical analysis was performed using Stata/SE version 12.0 (Stata Corporation, College Station, TX), with values of p ≤ 0.05 considered statistically significant. Results A total of 223 pregnant women had fetuses diagnosed with CAs. The prevalence of structural CAs in pregnant women with lowweight was of 20.18%, of 43.50% in pregnant women with adequate weight, of 22.87% in pregnant women with overweight, and of 13.45% in pregnant women with obesity. The prevalence of central nervous system (CNS) anomalies and of genitourinary systemanomalieswas high for the four groups of pregnant women. A positive association was observed between multiple anomalies in pregnant women with adequate weight (prevalence ratio [PR] = 1.65; p ≤ 0.004) and between anomalies of the lymphatic system in obese pregnant women (PR = 4.04, p ≤ 0.000). Conclusion The prevalence of CNS and genitourinary systemanomalies was high in all of the BMI categories. Obese pregnancies were associated with lymphatic system anomalies. Therefore, screening and identification of the risk factors for CAs are important, regardless of the maternal BMI. Our findings reinforce the importance of discussing with pregnant women maternal nutrition and its effect on fetal development and on neonatal outcome.

Resumo Objetivo Avaliar e comparar a prevalência de anomalias congênitas (ACs) estruturais de acordo com o índice de massa corporal (IMC) materno. Métodos Estudo transversal envolvendo gestantes com fetos diagnosticados com ACs estruturais por ultrassonografia morfológica entre novembro de 2014 e janeiro de 2016. O estado nutricional das gestantes foi classificado de acordo como valor bruto do índice de massa corporal. As gestantes foram categorizadas em quatro grupos: baixo peso, peso adequado, sobrepeso e obesidade. A análise estatística foi realizada no programa Stata/SE versão 12.0 (Stata Corporation, College Station, TX), comvalores de p ≤ 0,05 considerados estatisticamente significantes. Resultados Um total de 223 gestantes tiveram fetos diagnosticados com ACs. A prevalência de AC estrutural emgestantes combaixo peso foi de 20,18%, emgestantes com peso adequado foi de 43,50%, em gestantes com sobrepeso foi de 22,87%, e em gestantes com obesidade foi de 13,45%. A prevalência de anomalias do sistema nervoso central (SNC) e do sistema geniturinário foi alta para os quatro grupos. Observou-se associação positiva entre múltiplas anomalias em gestantes com peso adequado (razão de prevalência [RP] = 1,65; p ≤ 0,004) e entre anomalias do sistema linfático em gestantes obesas (RP = 4,04, p ≤ 0,000). Conclusão A prevalência das anomalias do SNC e do sistema geniturinário foi alta em todas as categorias de IMC. Gestantes obesas foram associadas a anomalias do sistema linfático. Portanto, o rastreamento e a identificação dos fatores de risco para as AC são importantes, independentemente do IMC materno. Nossos achados reforçam a importância de discutir com gestantes sobre a nutrição materna e seu efeito no desenvolvimento fetal e no desfecho neonatal.

Diagnosis of atelosteogenesis type I suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism / Diagnóstico de atelosteogênese tipo I sugerido por ultrassonografia fetal e fenótipo paterno atípico com mosaicismo

Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ~ 20% of the evaluated cells and, therefore, confirming the diagnosis ofmosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.

Resumo A atelosteogênese tipo I (AOI) é uma displasia esquelética autossômica dominante causada por mutações no gene filamina B (FLNB) comachados clínicos clássicos e bem reconhecíveis. No entanto, pais afetados com um fenótipo mais leve, provavelmente commosaicismo somático, podem gerar uma prole comumfenótipomuito mais grave de AOI. No presente relato, descrevemos um recém-nascido do sexo feminino comAOI clássica, que levou à morte neonatal precoce, e cujo diagnóstico foi baseado em achados radiológicos pré-natais e no exame físico de seu genitor. Como o genitor apresentava deformidades em membros e assimetria corporal, que sugeriam mosaicismo somático, suas amostras biológicas foram analisadas por meio de um painel de genes para displasias esqueléticas. Umamutação missense, não descrita anteriormente na literatura, foi detectada no gene FLNB, afetando ~ 20% das células avaliadas, e, portanto, confirmando o diagnóstico de AOI em mosaico no genitor. A análise molecular realizada no genitor foi fundamental para sugerir o diagnóstico de AOI na recém-nascida, uma vez que esta morreu precocemente, e não havia amostras biológicas disponíveis.

Duplicación quística intestinal: Caso clínico / Intestinal cystic duplication: Case report

Las duplicaciones intestinales quísticas son anomalías congénitas infrecuentes, con incidencia de 1:4500 autopsias y etiopatogenia incierta. Son estructuras quísticas, tubulares o diverticulares revestidas de mucosa gastrointestinal con pared de músculo liso, adheridas al tracto gastrointestinal, pero no suelen comunicar con la luz intestinal. Los quistes de duplicación gástrica representan el 7-9% de los quistes de duplicación intestinal. Pueden diagnosticarse intraútero mediante ecografía y la resonancia magnética fetal permite caracterizar el quiste y descartar patologías concomitantes. La ecografía posnatal revela una imagen quística de "doble pared". Los neonatos suelen permanecer asintomáticos, pero pueden presentar desde síntomas gastrointestinales inespecíficos hasta síntomas de obstrucción por efecto masa, torsión o infección. En pacientes asintomáticos, se aconseja el seguimiento clínico y estudios de imagen periódicos. El tratamiento es la resección quirúrgica electiva, de manera preferente, con técnicas mínimamente invasivas. Se presenta un caso con sospecha prenatal de quiste de duplicación enteral.

Intestinal cystic duplications are rare congenital anomalies, with an estimated incidence of approximately 1:4500 autopsies. The etiopathogenesis is uncertain. These duplications are cystic, tubular or diverticular structures lined with gastrointestinal mucosa. They share a common smooth muscle wall with the gastrointestinal tract but usually their lumens do not communicate with each other. Gastric duplication cysts represent 7-9% of the gastrointestinal tract duplication. They can be diagnosed prenatally by fetal ultrasound; magnetic resonance imaging characterizes the cyst and excludes other malformations. Postnatal ultrasound shows a characteristic double walled cyst. Newborns are usually asymptomatic, although nonspecific gastrointestinal symptoms, intestinal obstruction due to mass effect, volvulus or infection are described. In asymptomatic patients, clinical follow-up and periodic image controls are recommended. Elective surgical resection is the treatment of choice, using minimally invasive technique whenever possible. A case of prenatally suspected intestinal cystic duplication is presented.

Madurez pulmonar fetal: evaluación ecográfica, ¿es confiable?

El objetivo de la presente comunicación es revisar la importancia del tema de la madurez fetal mediante procedimientos no invasivos empleando los ultrasonidos en sus variantes de flujometria Doppler y escala de grises. Los autores destacan la importancia de precisar con la mayor exactitud el grado de madurez pulmonar alcanzada por el feto a la hora de tomar la decisión de interrumpir la gestación por diversas indicaciones. Todo ello con la finalidad de evitar las consecuencias de la prematuridad que incluyen el síndrome de dificultad respiratoria (SOR) del recién nacido ocasionado por la ausencia de surfactante pulmonar que pudiera inclusive llevarlo a la muerte. Coinciden los autores en que se trata de un diagnóstico multiparamétrico que tiene como punto de partida el cálculo de la edad gestacional a partir de un primer estudio ultrasonográfico realizado entre las 5 y 10 semanas, luego la evaluación de la impedancia vascular del lecho pulmonar por medio del Doppler, acompañado de otros parámetros tales como la madurez intestinal, el grado de corticalización cerebral, la presencia de núcleos de osificación, la edad biométrica fetal actual y la estimación del peso. Concluyen enfatizando que ante la duda y la existencia de un feto sano, con crecimiento adecuado, perfil biofísico y hemodinámico normal, la conducta más sensata es la de esperar la culminación de la gestación según los nuevos criterios que redefinen la duración del embarazo y que han sido propuestos por la ACOG.

The purpose of this communication is to review the importance of fetal maturity determination by non-invasive procedures using ultrasound Doppler velocimetry and grayscale. The authors emphasize the importance of precisely specifying fetal lung maturity when deciding to terminate pregnancyfor various indications in order to avoid consequences of prematurity including newborn's respiratory distress syndrome (ROS) due to absence of lung su rfactant that could lead even to death. The authors coincide that a multiparameter diagnosis of gestational age calculation starts from a first ultrasound study between 5 and 10 weeks, assessment of lung vascular impedance by Doppler accompanied by intestinal maturity, degree of cerebral corticalization, presence of nuclei ossification, current biometric fetal age and estimation of weight. They conclude emphasizing that in doubt and presence of a healthy fetus, with good growth, and normal hemodynamic biophysical profile, the more sensible course is to wait for the completion of gestation according to new criteria that redefine the duration of pregnancy and has been proposed by the ACOG.

Diagnóstico prenatal de hidrops fetal no inmune. Serie de nueve casos. Revisión de la literatura / Prenatal diagnosis of non-immune fetal hydrops: a series of nine cases and a literature review

Objetivo: se presenta una serie de casos de hidrops fetal no inmune (HFNI) con el objetivo de revisar la literatura sobre su etiología y pronóstico. Materiales y métodos: serie de casos diagnosticados por ultrasonografía en el Servicio de Perinatología del Hospital Dr. Adolfo Prince Lara, Venezuela, hospital público de referencia de atención perinatal regional que atiende población de medios y bajos ingresos, en el periodo 2005-2009, y se realiza una revisión de la literatura en la base de datos Medline vía Pubmed, y en la base latinoamericana SciELO desde el año 1995 hasta 2011, y en libros de la especialidad. La palabra clave usada fue hidrops fetal. Resultados: se revisaron 2195 historias clínicas encontrándose nueve casos de HFNI, resultando una prevalencia de (0,41 por ciento). Hubo dos casos de monosomías, un caso asociado a proceso infeccioso, dos casos de malformaciones cardiacas, un caso de malformaciones múltiples, y en tres no se precisó etiología. Todos los productos fallecieron, ya sea in utero o en el periodo neonatal. Se encontraron 1584 publicaciones, incluyéndose 14 referencias, 6 revisiones, 6 presentaciones de casos y 2 artículos originales. Conclusión: HFNI está asociado a diversas patologías fetales y tiene alta mortalidad.

Objective: A series of cases of non-immune fetal hydrops (NIFH) is presented, aimed at reviewing the literature concerning its etiology and prognosis. Materials and methods: A series of cases diagnosed by ultrasonography at the Dr. Adolfo Prince Lara Hospital Perinatology Service in Venezuela, 20052009, is presented; this is a public reference hospital providing regional perinatal attention for the poorest strata of the population. A literature review was made using the Medline database via PubMed and the SciELO Latin-American database from 1995 to 2011, and in specialized books on the topic. Fetal hydrops was the key word used in the search. Results: 2,195 clinical histories were reviewed, finding 9 cases of NIFH (0.41 percent prevalence). There were two cases of monosomy, one infectionassociated case, two cases of cardiac malformation, a case of multiple malformations and etiology was not specified in three cases. Death occurred in all cases, whether in the uterus or during the neonatal period. 1,584 publications were found, including 14 references, 6 reviews, 6 case presentations and 2 original articles. Conclusion: NIFH is associated with differing fetal pathologies and involves high mortality.

Prenatal diagnosis and clinical course of restrictive foramen ovale in otherwise normal heart / 소아과

PURPOSE: Premature narrowing of the foramen ovale is rare but serious clinical entity. Prenatal narrowing or obstruction of the foramen ovale shows symptoms such as right heart failure, fetal hydrops, triscupid regurgitation, left heart obstructive disease, and supraventricular tachycardia. This study aimed to assess the prenatal diagnosis and postnatal clinical course of restrictive foramen ovale in utero in otherwise normal heart. METHODS: The subjects were five patients diagnosed with restrictive foramen ovale in utero from January 2001 to June 2005 at Chungnam National University Hospital. The diagnostic criteria was defined when the maximum diameter in a 4-chamber view is less than 2.5 mm and there is a continuous doppler velocity at the foramen ovale of more than 0.6m/s. RESULTS: At the time of diagnosis of restrictive foramen ovale, gestation age was 34~37 wks, and chief complaints were fetal arrhythmia(2 cases), pericardial effusion, Ebstein anomaly and subaortic stenosis. Two cases which were diagnosed fetal hydrops and supraventricular tachycardia delivered by emergent cesarian section. Five cases were found to have right heart dilatation on echocardiogram after birth, but right heart dilatation became normalized at day 7 after birth and the clinical courses were not eventful. CONCLUSION: Identifying an obstructed foramen ovale in the fetus warrants the further search for additional cardiac and extracardiac anomalies, which may alter the prognosis. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.

The Efficacy of Fetal Ultrasonography and Postnatal Abdominal Ultrasonography for the Diagnosis of Neonatal Abdominal Mass

PURPOSE: Most neonatal abdominal masses are benign in nature, but early detection and management is important to avoid the development of complications. So, we studied the causes of neonatal abdominal masses and the efficacy of ultrasonography for early detection and diagnosis. METHODS: We reviewed 36 newborn infants with abdominal masses who had been admitted to the nursery and Neonatal Intensive Cave Unit of Seoul National University Children' s Hospital from Jan. 1, 1989 to Dec. 31, 1995. RESULTS: The mean gestational age was 38 weeks and the male to female ratio was 22 : 14. All masses were benign and the most common etiology was hydronephrosis (41.7%). The following etiologies were multicystic dysplastic kidney, polycystic kidney, ovarian cyst, hemangioendothelioma, teratoma, meconium peritonitis, mesenteric cyst and intestinal duplication cyst. All except one were detected before the first 48hours, and among them, 32 cases (88.9%) detected antenatally. All patients except one who died shortly after birth, were examined by abdominal ultrasonography, and 31 of 35 masses (88.6%) had the same diagnosis of ultrasonography. Five cases had associated abnormalities in the opposite kidney and other organs. CONCLUSION: The most common etiology of neonatal abdominal masses was hydronephrosis and majority of masses originated from genitourinary system. Most abdominal masses were detected antenatally and abdominal ultrasonography was an efficient method for the diagnosis of neonatal abdominal masses.