Diagnóstico fortuito de neoplasia mucinosa de apéndice establecido durante la cesárea / Incidental diagnosis of mucinous neoplasm of appendix established during caesarean section

Resumen ANTECEDENTES: Los tumores del apéndice son bastante excepcionales y el adenocarcinoma mucinoso es el más frecuente de estos tumores. Esta patología es aún más infrecuente en pacientes embarazadas. CASO CLÍNICO: Paciente de 43 años, en curso de las 38.1 semanas del primer embarazo. Antecedentes: diabetes gestacional y obesidad mórbida. Se hospitalizó para practicarle la cesárea de urgencia, indicada por restricción del crecimiento intrauterino, sin posibilidad de una conducta expectante. En la ecografía de control prenatal del primer trimestre se describió la existencia de una masa quística, tabicada, de aproximadamente 12 x 12 cm. En la resonancia magnética nuclear de abdomen se encontró una lesión quística en el flanco derecho, de probable origen de masa anexial derecha de 12 x 9 cm. El estudio histopatológico reportó el hallazgo de una neoplasia mucinosa de bajo grado, asociada con extravasación extramural de mucina del apéndice cecal y un pseudomixoma peritoneal. CONCLUSIÓN: El hallazgo de una neoplasia mucinosa del apéndice en una paciente embarazada es sumamente raro. Su diagnóstico supone un reto, sobre todo en quienes no tienen síntomas. Aunque hay padecimientos más frecuentes en las mujeres, como los tumores de ovario o la apendicitis, vale la pena tener en cuenta este cuadro clínico en futuras pacientes. Se requiere mayor investigación de esta neoplasia en embarazadas para optimizar los métodos diagnósticos y poder tratarla de manera oportuna y evitar dañar al feto o la madre.

Abstract BACKGROUND: Tumours of the appendix are quite rare, with mucinous adenocarcinoma being the most frequent of these tumours. This pathology is even rarer in pregnant patients. CLINICAL CASE: 43-year-old patient, in the course of 38.1 weeks of her first pregnancy. History: gestational diabetes and morbid obesity. She was hospitalised for emergency caesarean section, indicated for intrauterine growth restriction, with no possibility of expectant management. The first trimester prenatal ultrasound scan showed a cystic mass, septate, measuring approximately 12 x 12 cm. Magnetic resonance imaging of the abdomen revealed a cystic lesion in the right flank, probably caused by a right adnexal mass measuring 12 x 9 cm. Histopathological study reported the finding of a low-grade mucinous neoplasm associated with extramural extravasation of mucin from the cecal appendix and a peritoneal pseudomyxoma. CONCLUSION: The finding of a mucinous neoplasm of the appendix in a pregnant patient is extremely rare. It is challenging to diagnose, especially in those without symptoms. Although there are more common conditions in women, such as ovarian tumours or appendicitis, this condition is worth considering in future patients. Further investigation of this neoplasm in pregnant women is needed to optimise diagnostic methods to treat it in a timely manner and to avoid harm to the foetus or the mother.

Diagnóstico ecográfico prenatal en el Centro Municipal de Genética Médica de Marianao, La Habana / Prenatal Ultrasound Diagnosis at the Genetics Center of Marianao Municipality, Havana

Introducción: La ecografía prenatal en el Programa de Prevención de Enfermedades Genéticas permite la detección precoz de malformaciones congénitas y mejora la calidad de vida de la madre y su familia. Objetivo: Conocer la frecuencia de malformaciones congénitas diagnosticadas en el Centro de Genética de Marianao y compararla con las estadísticas nacionales e internacionales. Métodos: Estudio retrospectivo, descriptivo y observacional. Se cuantificaron 203 malformaciones diagnosticadas entre 2007 y 2017 en el Centro de Genética de Marianao. Se consideraron como variables la edad materna, la edad gestacional del diagnóstico, la frecuencia por años y los tipos de malformaciones por sistemas. Resultados: En 13 307 nacimientos se diagnosticaron 203 fetos malformados (1,52 por ciento) a una edad gestacional media de 20,15 semanas. Las malformaciones más frecuentes fueron neurológicas (27,1 por ciento) y cardiovasculares (16,2 por ciento). En las madres adolescentes predominaron las cardiovasculares (27,3 por ciento) y digestivas (16,2 por ciento en las madres añosas, las cromosómicas (57,1 por ciento). Antes de la semana 17 se diagnosticaron malformaciones digestivas (41,7 por ciento) y neurológicas (40 por ciento); entre las 18 y 21 semanas, las esqueléticas (41,2 por ciento); entre las 22 y 26 semanas, cardiovasculares (66,7 por ciento) y cromosómicas (52,4 por ciento) y, después de la semana 27, las renales (9 por ciento. Conclusión: Predominaron las malformaciones neurológicas y cardiovasculares. La edad materna media fue superior en las malformaciones cromosómicas y menor en las digestivas y cardiovasculares. En el primer marcador del programa se diagnosticó la mayoría de las malformaciones digestivas y neurológicas; y en el segundo marcador, las cardiovasculares, cromosómicas y esqueléticas(AU)

Introduction: Prenatal ultrasound in the Genetic Disease Prevention Program allows early detection of congenital malformations and improves the quality of life of the mother and her family. Objective: To know the frequency of congenital malformations diagnosed at the Genetics Center of Marianao Municipality, Havana, Cuba, and to compare it with national and international statistics. Methods: Retrospective, descriptive and observational study. A total of 203 malformations diagnosed between 2007 and 2017 at the Genetics Center of Marianao were quantified. Maternal age, gestational age at diagnosis, frequency by years and types of malformations by systems were considered as variables. Results: In 13,307 births, 203 malformed fetuses were diagnosed (1.52 percent), at a mean gestational age of 20.15 weeks. The most frequent malformations were neurological (27.1 percent) and cardiovascular (16.2 percent). Cardiovascular (27.3 percent) and digestive (16.2 percent) malformations predominated in adolescent mothers, while chromosomal malformations predominated in older mothers (57.1 percent). Before the seventeenth week, digestive (41.7 percent) and neurological (40 percent) alformations were diagnosed; between the eighteenth and twenty-first weeks, skeletal (41.2 percent) malformations were diagnosed; between the twenty-second and twenty-sixth weeks, cardiovascular (66.7 percent) and chromosomal (52.4 percent) malformations were diagnosed; and after the twenty-seventh week, renal (9 percent) malformations were diagnosed. Conclusion: Neurological and cardiovascular malformations prevailed. The mean maternal age was higher in chromosomal malformations, and lower in digestive and cardiovascular malformations. Most of the digestive and neurological malformations were diagnosed in the first marker of the Program, while cardiovascular, chromosomal and skeletal malformations were diagnosed in the second marker(AU)

Application of short-term training path for prenatal ultrasound diagnostician in primary hospitals / 中华医学教育探索杂志

Objective:To explore the establishment and effect of short-term training path for prenatal ultrasound diagnosticians in primary hospitals.Methods:A total of 105 trainees from in total 5 batches of the "prenatal ultrasound screening training base" in Chongqing were selected as the research objects, and a combination of multiple teaching methods was used to carry out specialized training for primary prenatal ultrasound screening doctors before and after training. Theoretical examinations and practical operation assessments were performed, and after training, remote image quality control and continuous improvement methods were established for trainees to assess training effectiveness. SPSS 21.0 was used for t test, Wilcoxon test and chi-square test. Results:After training, the results of the theoretical examinations and practical operation examinations of the trainees were higher than those before the training ( P<0.05), and after the completion of the training, the number of trainees who returned to their original units to carry out prenatal ultrasound examination, the average number of prenatal ultrasound examinations per month and the number of referrals to higher prenatal diagnosis centers of each trainee increased significantly ( P<0.05). Conclusion:The establishment of short-term training path for prenatal ultrasound diagnosis can effectively improve the professional theoretical knowledge and practical operation level of prenatal ultrasound doctors in primary hospitals, and greatly solve the problem of technical promotion under the shortage of grassroots hospitals.

Prediction of Prenatal Ultrasound Screening Staff's Situation in Beijing Based on ARIMA Model / 中国医学科学院学报

Objective To understand the current situation and predict the trends in number and composition of prenatal ultrasound screening staff in Beijing. Methods We analyzed the region,age,professional title and other characteristics of prenatal ultrasound screening personnel in Beijing during 2007-2015.We then built an ARIMA model basing on the current situation to predict the number and composition of the staff in 2016-2020. Results The number of prenatal ultrasound screening staff showed an upward trend in 2007-2020 and was predicted to reach 1269 in 2020.During this period,the educational achievement and professional title of the staff showed a downward trend,and the working years became shorter,mainly below 5 years.The proportion of resident doctors remained at 26.6%,and that of the staff receiving further education would reach 43.2% by the end of 2020. Conclusion The prediction under ARIMA model suggests that efforts should be made to strengthen the training of young doctors and provide them opportunities for further study.

Diagnóstico prenatal y posnatal de anomalías del tracto urinario / Pre- natal and post-natal diagnosis of urinary tract anomalies

Introducción: El ultrasonido prenatal aporta una magnífica forma de introducirnos en la patofisiología renal humana, pero es incapaz de detectar todas las anomalías. Objetivos: Identificar las principales anomalías de riñón y tracto urinario en pacientes con diagnóstico prenatal o posnatal de estas anomalías. Métodos: Se incluyeron en el estudio todos los pacientes que llegaron remitidos al servicio de Nefrología del Hospital Pediátrico Docente William Soler entre el 1ero. de octubre de 2015 y el 30 de septiembre de 2017, por haberse detectado alteraciones en el ultrasonido prenatal durante el seguimiento de un embarazo normal y aquellos en los que después del nacimiento se comprobó alguna anormalidad en forma incidental o por síntomas relacionados. Se programó seguimiento clínico, imagenológico y terapéutico de acuerdo con la anomalía detectada. Resultados: El estudio incluyó 81 pacientes, 65 con diagnóstico prenatal y 16 con hallazgo posnatal. El sexo masculino estuvo representado por el 66,7 por ciento y la anomalía más frecuente estudiada resultó la displasia renal multiquística (23,4 por ciento). En segundo lugar, el diagnóstico morfológico correspondió a dilataciones del tracto urinario, que en su estudio posnatal se clasificaron como hidronefrosis (20,9 por ciento), pielectasias (17,4 por ciento) y reflujo vesicoureteral (7,4 por ciento). Conclusiones: El ultrasonido prenatal para la detección de anomalías de riñón y tracto urinario es un proceder diagnóstico de gran utilidad porque permite prepararnos para enfrentar estas anomalías antes que presente síntomas relacionados y además puede proporcionar una adecuada información a los padres. No todas las anomalías congénitas se detectan mediante ecografía prenatal(AU)

Introduction: The prenatal ultrasound provides a great way to introduce us to the human renal pathophysiology, but is unable to detect all of the anomalies. Objectives: To identify the main anomalies of the kidney and urinary tract in patients with prenatal or postnatal diagnosis of those. Methods: There were included in the study all the patients who were referred to the Nephrology Service of William Soler Pediatric Teaching Hospital from October 1, 2015 to September 30, 2017 being detected alterations in the prenatal ultrasound during the follow-up of a normal pregnancy and those in which after birth any abnormality was found incidentally or by related symptoms. Clinical, imaging and therapeutic follow-up were scheduled in accordance with the anomaly detected. Results: The study included 81 patients, 65 with prenatal diagnosis and 16 with post-natal finding. The male sex was represented by the 66.7 percent and the most common anomaly studied was the multicystic dysplastic kidney (23.4 percent). Secondly, the morphological diagnosis corresponded to dilations of the urinary tract, which in the post-natal study were classified as hydronephrosis (20.9 percent), pyelectasis (17.4 percent) and vesicoureteral reflux (7.4 percent). Conclusions: The prenatal ultrasound for the detection of kidney and urinary tract´s anomalies is a diagnosis of great utility because it allows us to prepare to face these anomalies before they present related symptoms and it can also provide adequate information to parents. Not all congenital anomalies are detected by prenatal ultrasound(AU)

Efficiency of Prenatal Ultrasound Screening Service in Beijing: A Malmquist-Data Envelopment Analysis / 中国医学科学院学报

To analyze the efficiency of prenatal ultrasound screening service in Beijing and thus optimize the secondary prevention system for birth defects in Beijing. Data were collected from the prenatal screening work reports of Beijing from 2010-2016.Key variables were extracted after data quality control.Data envelopment analysis was performed to analyze the efficiency and changing trend of ultrasound-based screening service and to compare the service efficiency between urban and suburban areas in Beijing. From 2010 to 2016,the technical efficiency of ultrasound screening services showed an increasing trend,and the geometric mean of technical efficiency in suburban areas was higher than that in urban areas.From 2010 to 2016,the total factor productivity of ultrasound screening service increased by 12.3% annually,in which the technical change increased by 12.0% annually;the technical efficiency increased by 0.3%,the pure technical efficiency increased by 13.9% annually,and the scale efficiency decreased by 0.4%. The technical efficiency of ultrasound screening service in Beijing increased from 2010 to 2016,and the total factor productivity improved.Technical change and pure technical efficiency change were the main reasons for the improvement.The resource allocation should be further optimized to improve the scale efficiency and enhance the training of prenatal ultrasound screening technicians.

Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases / 中华医学遗传学杂志

Objective@#To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality.@*Methods@#In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.@*Results@#The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses.@*Conclusion@#Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.

Analysis of the performance of 11 formulae for fetal weight estimation in preterm fetuses with abnormal doppler velocimetry - A retrospective multicenter study / Análise do desempenho de 11 fórmulas de estimativa de peso fetal em conceptos prematuros com Dopplervelocimetria alterada - um estudo retrospectivo multicêntrico

Abstract Objective To assess 11 formulae commonly used to estimate fetal weight in a population of premature fetuses who had abnormal Doppler velocimetry due to early-onset placental insufficiency. The performance of each formula was evaluated in subgroups of fetuses with expected growth and intrauterine growth restriction. Methods Data were collected fromfetuses andmothers who delivered at three Brazilian hospitals between November 2002 and December 2013.We used the following formulae: Campbell; Hadlock I, II, III, IV and V; Shepard; Warsof; Weiner I and II; and Woo III. Results We analyzed 194 fetuses. Of these, 116 (59.8%) were considered appropriate for gestational age (AGA), and 103 (53.1%) were male. The amniotic fluid volume was reduced in 87 (44.8%) fetuses, and the umbilical artery Doppler revealed absence or inversion of diastolic flow in 122 (62.9%) cases, and the analysis of the ductus venosus revealed abnormal flow in 60 (34.8%) fetuses. The Hadlock formulae using three or four fetal biometric parameters had low absolute percentage error in the estimated fetal weight among preterm fetuses with abnormal Doppler studies who were born within 5 days of the ultrasound evaluation. The results were not influenced by the clinical and ultrasound parameters often found in early-onset placental insufficiency. Conclusion In this study, the formulae with the best performance for fetal weight estimation in the analyzed population were Hadlock I and IV, which use four and three fetal biometric parameters respectively to estimate the weight of preterm fetuses with abnormal Doppler studies.

Resumo Objetivo Avaliar o desempenho de 11 fórmulas comumente utilizadas para estimativa de peso fetal em uma população de fetos prematuros com dopplervelocimetria alterada devido a insuficiência placentária de início precoce. O desempenho de cada fórmula foi avaliado em subgrupos de fetos com crescimento adequado e com crescimento intrauterino restrito. Métodos Foram coletados os dados de mães e fetos cujos partos foram acompanhados em 3 instituições brasileiras entre novembro de 2002 e dezembro de 2013. As fórmulas selecionadas para análise foram: Campbell; Hadlock I, II, III, IV e V; Shepard; Warsof; Weiner I e II; e Woo III. Resultados Foram analisados os pesos de 194 fetos, dos quais 116 (59,8%) foram considerados adequados para a idade gestacional, 103 (53,1%) eram do sexo masculino, em 87 (44,8%) havia redução do volume de líquido amniótico, em 122 (62,9%) o Doppler de artéria umbilical demonstrou ausência ou inversão do fluxo na diástole, e em 60 (34,8%) a análise do duto venoso indicou fluxo anormal. A média do erro percentual absoluto (EPA) demonstrou que as fórmulas de Hadlock que utilizam 3 ou 4 parâmetros biométricos fetais apresentaram o melhor desempenho. Os resultados obtidos para essas fórmulas não sofreram influência dos parâmetros clínicos e ultrassonográficos frequentemente encontrados na insuficiência placentária de início precoce. Conclusão O presente estudo demonstrou o melhor desempenho das fórmulas de Hadlock que contêm 3 ou 4 parâmetros da biometria para estimativa de peso de fetos prematuros com anormalidades ao mapeamento Doppler.

Prenatal ultrasound characteristics of fetal congenital absence of the ductus venosus and follow-up analysis of the prognosis / 中国医师进修杂志

Objective@#To investigate the sonographic findings of fetal congenital absence of the ductus venosus (ADV) and its effect on the prognosis of fetus.@*Methods@#The ultrasonographic features of 11cases of fetal ADV deficiency diagnosed from December 2013 to June 2017 were retrospectively analyzed, and the fetal prognosis was followed up.@*Results@#Of the 11 cases, umbilical vein flew directly back to the right atrium in 7 cases; umbilical vein connected with the inferior vena cava in 1 case; umbilical vein directly flowed into the iliac vein in 1 case; umbilical vein and portal vein connection in the other 2 cases. Of the 11 cases, 4 cases were solitary and had no abnormality after birth; 5 cases were complicated with abnormal structure of intracardiac and extracardiac system; 2 cases were only followed with abnormal extracardiac system. Of the 5 complicated cases, 1 case was double chorionic twin amniotic membrane pregnancy (the second fetuse had no obvious abnormality) and died after birth; the other 4 cases were terminated before 28 weeks of gestation. Of the 2 complicated cases, 1 case was followed with severe digestive tract abnormalities and died after birth, and the other one was followed with single umbilical artery and hydramnion.@*Conclusions@#Color Doppler ultrasonography is an important means for prenatal screening of fetal ADV.The prognosis of patients with solitary ADV without fetal cardiac dysfunction is good.The prognosis is poor to patients with severe intracardiac and extracardiac abnormality. There is a correlation between the ADV and fetal chromosomal abnormalities. If pregnancy is necessary, fetal chromosome examination should be recommended first and cardiac function should be followed up closely by ultrasound.

Clinical analysis of non-immune hydrops in 10 fetuses / 临床儿科杂志

Objective To explore the clinical features, diagnosis, and treatment of non-immunologic hydrops fetalis (NIHF). Methods The clinical data of 10 cases of NIHF in neonatal intensive case unit during January 2011 to December 2016 were analyzed retrospectively. The related literatures were reviewed. Results In 10 cases of NIHF (6 males and 4 females). the gestational age were 32-42 weeks, and the birth weight was 2.25-3.95 kg. Among them, there were 3 cases of infectious diseases (cytomegalovirus, Streptococcus agalactiae, and parvovirus infection, one case each), 2 cases of fetal cardiovascular abnormalities, 2 cases of chromosomal abnormalities, 1 case of abnormal thoracic structures, 1 case of twin transfusion syndrome, and 1 case of etiology unknown of fetal hydrops. The clinical manifestations showed that there were 8 cases with 2 or more areas of edema (or hydrops), and only 2 cases with skin edema. Finally, 6 cases were cured and discharged, 2 cases were discharged by themself, and 2 cases died. Conclusions Prenatal ultrasound is a reliable method for the diagnosis of NIHF. Fetal edema in early pregnancy, especially with congenital malformations, is recommended for termination of pregnancy. After birth, NIHF should be diagnosed promptly so as to avoid or reduce severe complications.

Ultrasound Diagnosis of Fetal Thanatophoric Skeletal Dysplasia:Three Cases Report and a Brief Review / 华中科技大学学报（医学）（英德文版）

Congenital skeletal deformity of ferns varies and may be attributed to a range of reasons.Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly.The disease brings great pain to victim and their family.We reviewed the fetal prenatal ultrasonic data conducted during period from Jan.2013 to June 2016,and there were 84 fetuses with skeletal abnormalities among 12 000 cases,and 3 fetuses with thanatophoric dysplasia.Our report described and reviewed three common types of thanatophoric dysplasia,aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.

Combination of ultrasound and MRI in the diagnosis of fetal thoracic abnormalities / 实用放射学杂志

Objective To compare and analyze the diagnostic value of prenatal ultrasound and MRI in fetal thoracic abnormalities, as well as the advantages and disadvantages, respectively, and to explore the clinical value of the combined use in diagnosing fetal thoracic abnormalities.Methods The prenatal ultrasound and MRI images of total 94 cases with thoracic abnormalities were analyzed retrospectively.All the patients received MRI exams within 2 days after the preliminary ultrasound diagnosis of abnormalities.All cases were confirmed by autopsy or postnatal follow-ups.Results 94 cases of thoracic abnormalities included 48 cases of cystic adenoma abnormalities, 33 cases of bronchopulmonary sequestration, 10 cases of diaphragmatic hernia and 3 cases of primary pulmonary hypoplasia.The diagnosis coincidence rate of ultrasound was 82.98% (78/94), while the combined use was 93.62% (88/94).There were statistical differences between the combined use and single ultrasound examination in detecting fetal thoracic abnormalities(P<0.05).Conclusion Both ultrasound and MRI could diagnose fetal thoracic abnormalities well and had its own advantages and disadvantages.The combined use of ultrasound and MRI could improve the sensitivity and specificity of prenatal diagnostic accuracy and have a better advantage in diagnosing fetal thoracic abnormalities.

Clinical and laboratory diagnosis of congenital Zika virus syndrome and diaphragmatic unilateral palsy: case report / Diagnostico clínico e laboratorial do Zika vírus congênito e paralisia diafragmática unilateral: o relato de um caso

Abstract Introduction: several birth defects associated to congenital Zika virus infection have been reported, although the clinical features have not been fully characterized. Description: this is the first case report on unilateral diaphragmatic paralysis diagnosed on a neonate with congenital Zika confirmed by the examination of the amniotic fluid through polymerase chain reaction (ZIKV RT-PCR) and the examination of cerebrospinal fluid by serological test (IgM ZIKV-ELISA) after birth. The main manifestations detected by intrauterine ultrasound were: microcephaly, ventriculomegaly, intracranial calcifications, enlarged cisterna magna, increased amniotic fluid index and fetal akinesia syndrome. The newborn had acute respiratory failure in the first hours of life, requiring mechanical ventila-tion. The X- ray of the chest showed unilateral diaphragmatic paralysis and cardiomegaly. Discussion: diaphragmatic palsy in congenital Zika has not been previously reported, the etiopathogenic mechanisms of this event in congenital Zika virus needs to be elucidated.

Resumo Introdução: apesar de vários defeitos de nascimento associados à infecção congênita pelo Zika vírus terem sido descritos, o quadro clínico ainda não foi completamente caracterizado. Descrição: este é o primeiro relato de caso de paralisia diafragmática unilateral em um neonato com diagnóstico confirmado de Zika congênita pelo exame do líquido amniótico utilizando a reação da polimerase em cadeia (ZIKV PCR-RT) e pelo exame sorológico do líquido cefaloraquidiano (ZIKV IgM-ELISA), após o nascimento. As principais manifestações detectadas pela ultrassonografia intraútero no período gestacional foram: microcefalia, ventriculomegalia, calcificações intracranianas, cisterna magna alargada, aumento do índice de liquido amniótico e síndrome da acinesia fetal. O recém-nascido apresentou falência respiratória aguda nas primarias horas de vida, necessitando de ventilação mecânica. A radiografia de tórax realizada mostrou paralisia diafragmática unilateral e cardiomegalia. Discussão: a paralisia diafragmática na Zika congênita não havia sido previamente relatada, havendo a necessidade de investigação dos mecanismos etiopatogênicos dessa manifestação na infecção congênita pelo Zika vírus.

Altered intrauterine ultrasound, fetal head circumference growth and neonatal outcomes among suspected cases of congenital Zika syndrome in Brazil / Alterações ultrassonográficas intraútero, crescimento da circunferência cefálica fetal e desfechos neonatais entre casos presumíveis de síndrome da Zika congênita no Brasil

Abstract Objectives: to describe altered intrauterine ultrasound, analyze fetal head circumference (HC) growth and neonates' outcomes among presumed cases of congenital Zika syndrome in Brazil. Methods: 30 women were included in the study with suspected history of Zika virus (ZIKV) infection during pregnancy and fetal's brain altered on ultrasound diagnosis. Sociodemographic and obstetric characteristics, prenatal altered ultrasounds, HC and other perinatal outcomes have been described. The relation between HC and gestational age was analyzed by using random regression effects based on polynomials fractions. The Z test was calculated to determine an instant variant mean rate of the HC for each gestational age. Results: the mean gestational age of the ultrasound diagnosis was 33.3 + 4.7 weeks and HC at birth was 28.9 + 1.6 cm. The main altered brain ultrasound was microcephaly (96.7%). The analysis of the fetal head circumference showed an estimated increase of the average HC, as to gestational age, it did not occur in a linear form. The instant HC variation rate increased according to gestational age (p<0,001). Conclusions: Fetal's main morphological alteration was microcephaly, observing an increase in the head circumference according to gestational age in a non-linear form and the variation decreased with gestational age.

Resumo Objetivos: descrever alterações ultrassonográficas intraútero, analisar o crescimento da circunferência cefálica (CC) fetal e desfechos neonatais entre casos presumíveis de síndrome da Zika congênita no Brasil. Métodos: foram incluídas 30 mulheres com história sugestiva de infecção por Zikavirus (ZIKV) na gestação e diagnóstico ultrassonográfico de alteração cerebral fetal. Foram descritas as características sociodemográficas e obstétricas, alterações ultrassonográficas pré-natal, CC e os resultados perinatais. A relação entre a CC e a idade gestacional foi analisada utilizando-se modelos de regressão de efeitos aleatórios baseados em polinômios fracionais. O teste Z foi calculado para determinar a taxa de variação instantânea da CC média de cada idade gestacional. Resultados: a média da idade gestacional do diagnóstico ultrassonográfico foi de 33,3 + 4,7 semanas e da CC ao nascer foi de 28,9 + 1,6 cm. A principal alteração ultrassonográfica cerebral foi a microcefalia (96,7%). A análise da circunferência cefálica fetal demonstrou que o aumento da estimativa da CC média segundo a idade gestacional ocorreu de forma não linear. Observou-se ainda que a taxa de variação instantânea da CC aumentou segundo a idade gestacional (p<0,001). Conclusões: a principal alteração morfológica fetal foi a microcefalia, observando um crescimento da circunferência cefálica segundo a idade gestacional de forma não linear e que a variação diminui com a idade gestacional.

Hyperplastic primary vitreous with hemorrhage manifested as a hyperechoic mass in the fetal orbit by prenatal ultrasound in a case of isolated unilateral microphthalmia

Congenital microphthalmia is a rare anomaly of the fetal orbit resulting from developmental defects of the primary optic vesicle. Chromosomal anomalies, genetic defect, infection, and prenatal drug exposure are the most common causes. Congenital microphthalmia is usually associated with other abnormalities, and cases of isolated microphthalmia are rarely reported. Congenital microphthalmia can be diagnosed by prenatal ultrasound by measuring the axial diameter of the eye ball, but the accuracy depends on fetal position and associated anomalies. We report a case of an isolated unilateral microphthalmia which was not diagnosed by prenatal ultrasound, because the only abnormal prenatal ultrasound finding was a small hyperechoic mass lesion in the eye ball and the subsequent scan of the orbits was limited due to fetal prone position. The hyperechoic mass lesion in the eye ball was finally diagnosed as a persistent hyperplastic primary vitreous with hemorrhage by neonatal magnetic resonance image.

Evaluation of prenatal diagnosis of congenital defects by screening ultrasound, in Cali, Colombia / Evaluación del diagnóstico prenatal de defectos congénitos por ecografía de tamizaje, en Cali, Colombia

Abstract Introduction: The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis. Methods: It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, sociodemographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done. Results: Were included 173 NB, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS). Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41) and 35 to 47 years (OR: 5.24), with low levels of maternal education (OR: 8.70) and with only a PNUS compared to having two or more PNUS (OR: 4.00). Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51). Among mothers who had PNUS, screening sensitivity of CDDPU after the 19th gestational week was 79.2%. Conclusions: The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia.

Resumen Introducción: El objetivo del estudio fue determinar la frecuencia de diagnóstico ecográfico prenatal de anomalías congénitas en Recién Nacidos (RN) con defectos congénitos hospitalizados en dos Unidades de Cuidado Intensivo Neonatal (UCIN) de Cali (Colombia) e identificar factores sociodemográficos relacionados con la ausencia del mismo. Métodos: Estudio observacional tipo transversal. Se incluyeron RN con Defectos Congénitos Diagnosticables por Ecografía Prenatal (DCDEP) hospitalizados en unidad de cuidados intensivos neonatal. Se aplicó un formato de recolección de datos a las madres, sobre realización de ecografías, datos sociodemográficos e información sobre el diagnóstico prenatal y definitivo de su patología. Se realizaron análisis de regresión logística y de regresión de Cox múltiples. Resultados: Se incluyeron 173 recién nacidos, el 42.8% de los casos no tenía diagnóstico prenatal, de éstos, el 59.5% no tenía ninguna Ecografía Prenatal (ECOPN). La ausencia de ECOPN se asoció con la edad materna de 25 a 34 años (Oportunidad Relativa [OR]: 4.41) y de 35 a 47 años (OR: 5.24), con bajo nivel de escolaridad materna (OR: 8.70) y con sólo una ECOPN en comparación con tener dos o más (OR: 4.00). Las madres no aseguradas tienden a demorarse el doble del tiempo en acceder a la primera ECOPN en comparación con gestantes del régimen contributivo (Peligro Relativo [HR]: 0.51). Entre las madres que se realizaron ECOPN, la sensibilidad del tamizaje de DCDEP después de la semana 19 de gestación fue 79.2%. Conclusiones: La frecuencia de diagnóstico prenatal es baja y se explica por la ausencia de ECOPN o por la falta de diagnóstico en la ecografía. Se encontró una asociación entre la no realización de ECOPN y gestantes tardías y de bajo nivel de escolaridad. Además, las madres no aseguradas tienden a demorarse el doble del tiempo en acceder a la ECOPN en comparación con las madres aseguradas. Se deben establecer políticas nacionales que garanticen el acceso a un apropiado control prenatal y ecografías oportunas y de buena calidad para todas las embarazadas en Colombia.

Diagnóstico ecográfico prenatal de fibroelastosis endocárdica / Prenatal ultrasound diagnosis of endocardial fibroelastosis

Se presenta el caso clínico de una gestante de 39 años de edad, quien fuera ingresada a las 22 semanas de gravidez en el Hospital Ginecoobstétrico Docente "Tamara Bunke Bider" de Santiago de Cuba, luego de ser remitida del Centro Provincial de Genética por el diagnóstico ecográfico prenatal de fibroelastosis endocárdica, confirmado en el Cardiocentro de esta provincia. Después de la interrupción del embarazo, sugerida en la consulta de Genética, se realizó la autopsia al feto y con el estudio hístico del ventrículo izquierdo se corroboró la miocardiopatía.

The case report of a 39-year-old pregnant woman is presented, who was admitted at 22 weeks of pregnancy to "Tamara Bunke Bider" Teaching Gynecoobstetric Hospital of Santiago de Cuba, after being referred from the Provincial Center of Genetics due to prenatal ultrasound diagnosis of endocardial fibroelastosis, confirmed at the Heart Center of this province. After abortion, suggested at the Department of Genetics, autopsy was performed and the fetal left ventricle tissue study confirmed cardiomyopathy.

Quiste de colédoco fetal: diagnóstico prenatal y manejo perinatal

Los quistes de colédoco son malformaciones congénitas infrecuentes de las vías biliares. Se presenta un caso de diagnóstico ecográfico prenatal de un quiste fetal abdominal en una gestante a término, su evolución, manejo y tratamiento posnatal.

Choledochal cysts are infrequent congenital malformations of the bile duct. A case of prenatal sonographic diagnosis of an abdominal fetal cyst in a term pregnancy is presented in correlation with its evolution, handling and post natal treatment.

First Trimester Antenatal Ultrasonographic Screening for Aneuploidy - So Far So Good.

Ultrasound has become an integral component of obstetric care, with the vast majority of patients having at least one ultrasound examination during pregnancy. Recent advances in obstetric ultrasonography (USG) have increased its importance in managing pregnancies at risk for aneuploidy and structural abnormality. Antenatal screening of aneuploidy, particularly Down syndrome includes biochemical markers, USG and invasive tests like chorionic villus sampling (CVS) and amniocentesis. In this article, we review and compare these screening modalities with emphasis on USG. In light of current literature, we will discuss first trimester sonographic markers associated with aneuploidy viz. nuchal translucency (NT), fetal nasal bone and ductus venosus flow and their statistical as well as clinical significance in the detection of aneuploidy. We will review the current data and status of first trimester screening for aneuploidy.

Diagnóstico prenatal del pie bot / Prenatal diagnosis of clubfoot

Introducción. El pie bot es una de las anomalías músculo- esqueléticas congénitas más frecuentes. La utilización de la ecografía para la detección prenatal del pie bot ha avanzado rápidamente en la última década, pero las publicaciones han presentado una gran variabilidad de opiniones en cuanto a la eficacia del método, la asociación con otras patologías y la necesidad de realizar amniocentesis para análisis del cariotipo. Objetivos. Analizar en qué porcentaje de pacientes se realizó diagnóstico prenatal del pie bot, evaluar la opinión de las madres al respecto y aclarar algunos conceptos revisando la bibliografía disponible a la fecha. Métodos. Se analizó retrospectivamente un grupo de 54 pacientes consecutivos con diagnóstico de pie bot tratados en el período enero 2008-junio 2010. Se documentaron el número de ecografías realizadas durante el embarazo, el tipo de ecografía realizada (2D, 3D o 4D) y la semana de gestación al momento del diagnóstico. Las madres fueron encuestadas a fin de conocer su opinión con respecto al diagnóstico prenatal de esta deformidad. Resultados. Se realizaron 3,2 ecografías promedio durante el embarazo (r, 1-7). En el 25% (13/52) de los casos se realizó diagnóstico prenatal. El diagnóstico fue realizado en 7 casos con ecografía 2D, en 4 con 3D y en 2 con 4D, y en promedio se efectuó a la semana 22 (r, 20-28). En ningún paciente se llevó a cabo diagnóstico temprano, en 12 fue tardío y en 1 muy tardío. Conclusión. El diagnóstico prenatal permite a los padres de prepararse psicológicamente y asesorarse sobre la patología. En nuestra serie, el 90,4% se mostró a favor de conocer previamente el diagnóstico.

Introduction. Clubfoot is one of the most frequent congenital musculoskeletal anomalies. The use of ultrasound for prenatal detection of clubfoot has advanced rapidly in the last decade, but publications report a great variability in opinions regarding the effectiveness of the method, the association with other diseases and the need to perform amniocentesis analysis of the karyotype. Objectives. To analyze the percentage of patients with prenatal diagnosis of clubfoot, evaluate mothers' opinion on this issue, and clarify some concepts by reviewing the literature available to date. Methods. We retrospectively analyzed a group of 54 consecutive patients diagnosed with clubfoot treated from January 2008 to June 2010. We documented the number of ultrasounds performed during pregnancy, type of ultrasound (2D, 3D or 4D) and the gestational week at diagnosis. Mothers were surveyed to ascertain their opinion with regard to prenatal diagnosis. Results. An average of 3.2 ultrasounds was performed during pregnancy (r, 1-7). Prenatal diagnosis was performed in 25% of cases (13/52 patients). Diagnosis was performed in 7 cases with 2-D ultrasound in 4 with 3-D and in 2 with 4-D. Diagnosis was performed on average at week 22 (r, 20- 28). No patient was diagnosed early, 12 were diagnosed late and 1 very late. Conclusion. Prenatal diagnosis gives parents the opportunity for psychological preparation and counseling regarding clubfoot. In our series, 90.4% supported prenatal diagnosis.