¿Cuál es el rol actual de la toracocentesis en el hidrotórax fetal severo? Presentación de caso

Se llama hidrotórax a una efusión pleural primaria que ocurre durante la vida prenatal (denominado 'quilotórax primario' después del nacimiento). En ciertos casos, esta efusión es severa y produce compresión pulmonar y cardiaca, por lo cual, la mortalidad perinatal sigue siendo alta. Los recién nacidos con hidrotórax requieren, muchas veces, de drenaje, nutrición parenteral total y medicación específica para su recuperación. Sin embargo, las intervenciones prenatales, principalmente con derivaciones toraco-amnióticas, pueden mejorar estos resultados. Reportamos el caso de un feto con hidrotórax severo a quien se le realizó una toracocentesis y revisamos la literatura acerca de su rol en el tratamiento prenatal actual.

Hydrothorax is a primary pleural effusion that occurs during prenatal life (called "primary chylothorax" after birth). In certain cases, this effusion is severe and produces pulmonary and cardiac compression, and perinatal mortality remains high. Newborns with hydrothorax often require drainage, total parenteral nutrition and specific medication for their recovery. However, prenatal interventions, mainly with thoraco-amniotic shunts, can improve these results. We report the case of a fetus with severe hydrothorax who underwent thoracentesis and review the literature on its role in current prenatal management.

Perinatal Outcomes after Fetal Endoscopic Tracheal Occlusion for Isolated Congenital Diaphragmatic Hernia: Rapid Review / Resultados perinatais após oclusão traqueal endoscópica fetal por hérnia diafragmática congênita isolada: Revisão rápida

Abstract Objective To compare the perinatal outcomes of fetuses with isolated congenital diaphragmatic hernia after fetal endoscopic tracheal occlusion (FETO) and antenatal expectant management. Data sources In this rapid review, searches were conducted in the MEDLINE, PMC, EMBASE and CENTRAL databases between August 10th and September 4th, 2020. Randomized controlled trials (RCTs), quasi-RCTs or cluster-RCTs published in English in the past ten years were included. Study selection We retrieved 203 publications; 180 studies were screened by abstract. Full-text selection was performed for eight studies, and 1 single center RCTmet the inclusion criteria (41 randomized women; 20 in the FETO group, and 21 in the control group). Data collection Data collection was performed independently, by both authors, in two steps (title and abstract and full-text reading). Data synthesis There were no cases of maternal mortality. The mean gestational age at delivery was of 35.6±2.4 weeks in the intervention group, and of 37.4±1.9 weeks among the controls (p<0.01). Survival until 6 months of age was reported in 50% of the intervention group, and in 5.8% of the controls (p<0.01; relative risk: 10.5; 95% confidence interval [95%CI]: 1.5-74.7). Severe postnatal pulmonary hypertension was found in 50% of the infants in the intervention group, and in 85.7% of controls (p=0.02; relative risk: 0.6; 95%CI: 0.4-0.9). An analysis of the study indicated some concerns of risk of bias. The quality of evidence was considered moderate to low. Conclusion Current evidence is limited but suggests that FETO may be an effective intervention to improve perinatal outcomes.

Resumo Objetivo Comparar os resultados perinatais de fetos com hérnia diafragmática congênita após oclusão traqueal endoscópica fetal (OTEF) e conduta expectante pré-natal. Fontes dos dados Nesta revisão rápida, pesquisas foram conduzidas nas bases de dados MEDLINE, PMC, EMBASE e CENTRAL entre 10 de agosto de 2020 e 4 de setembro de 2020. Ensaios clínicos randomizados (ECRs), quase-ECRs e ECRs em cluster publicados em inglês nos últimos dez anos foram incluídos. Seleção dos estudos Foram recuperadas 203 publicações; 180 destas foram triadas pelo resumo. Fez-se a leitura do texto completo de 8 estudos, e 1 ECR cumpriu os critérios de inclusão (41 mulheres aleatorizadas; 20 no grupo OTEF e 21 no grupo de controle). Coleta de dados A coleta de dados realizada independentemente pelos dois autores, em duas etapas (título e resumo, e leitura do texto completo). Síntese dos dados Não houve casos de mortematerna. A idade gestacionalmédia no parto foi de 35,6±2,4 semanas no grupo de intervenção, e de 37,4±1,9 semanas entre os controles (p<0,01). A sobrevida até 6 meses de idade foi relatada em 50% do grupo de intervenção, e em 5,8% dos controles (p<0,01; risco relativo: 10,5; intervalo de confiança de 95% [IC95%]: 1,5-74,7). Hipertensão pulmonar grave ocorreu em 50% dos lactentes do grupo de intervenção, e em 85,7% dos controles (p = 0.02; risco relativo: 0,6; IC95%: 0,4-0,9). Uma análise do estudo indicou algumas preocupações quanto ao risco de viés. A qualidade da evidência foi considerada de moderada a baixa. Conclusão As evidências atuais são limitadas,mas sugeremque a OTEF pode ser uma intervenção eficaz para melhorar resultados perinatais.

Screening for congenital heart disease in a Singapore neonatal unit

INTRODUCTION@#Congenital heart disease (CHD) is a leading cause of infant mortality. The aim of this study was to evaluate the efficacy of a neonatal screening programme for CHD before the introduction of pulse oximetry.@*METHODS@#This was a retrospective review of live births in the period 2003-2012. Cases of CHD were detected through prenatal ultrasonography and/or postnatal examination, and confirmed using two-dimensional echocardiography. Data was rigorously checked against multiple sources. The antenatal detection rate, sensitivity, specificity, predictive values and likelihood ratios of the screening programme were analysed for all cases of CHD and critical CHD.@*RESULTS@#The incidence of CHD was 9.7 per 1,000 live births. The commonest CHD was ventricular septal defect (54.8%). The antenatal detection rate was three times higher in the critical CHD group (64.0%) compared to the group as a whole (21.1%). The sensitivity and specificity of screening was 64.5% and 99.7% for all CHD, and 92.9% and 99.1% for the critical CHD group, respectively. The positive likelihood ratio was 215 and 103, while the negative likelihood ratio was 0.36 and 0.07 for all CHD and critical CHD, respectively.@*CONCLUSION@#The CHD screening programme had excellent specificity but limited sensitivity. The high positive likelihood ratios indicate that where sufficient risk factors for CHD are present, a positive result effectively confirms the presence of CHD. The low negative likelihood ratio for critical CHD indicates that, where prior suspicion for critical CHD is low, a negative result is reassuring.

Maternal and fetal parameters in pregnant woman undergoing tocolysis with nifedipine / Parâmetros maternos e fetais em gestante submetida a tocólise com nifedipina

Abstract Objectives: to evaluate the effects of nifedipine with tocolysis under maternal and fetal parameters. Methods: a cohort study with 40 pregnant women admitted at a high-risk pregnancy ward to inhibit premature labor between September/2010 to May/2012. Nifedipine was used as a 20mg sublingual attack dose and maintained 20mg every six and eight hours orally. The variables of the analysis were fetal heart rate (FHR), maternal heart rate (MHR), systolic blood pressure (SBP) and diastolic blood pressure (DBP), and amniotic fluid index (AFI). All the variables were evaluated prior to administrating nifedipine and approximately after 6 hours and every 24 hours, until hospital discharge. Results: there were no modification of the FHR (p=0.48) and the SBP (p=0.29). The MHR increased after 24 hours, but with no statistical difference (p=0.08), returning to similar levels as at admission within 48 hours. The DBP decreased at 6 (p=0.04) to 72 hours, being stable afterwards. The AFI decreased significantly at 24, 48 and 72 hours. Conclusions: the use of high doses of nifedipine with tocolysis causes a decrease of the maternal's diastolic blood pressure and consequently decreases the amniotic fluid index, but probably without any clinical repercussions.

Resumo Objetivos: avaliar os efeitos da nifedipina utilizada na tocólise sobre os parâmetros maternos e fetais. Métodos: estudo de coorte incluindo 40 gestantes admitidas na enfermaria de alto risco para inibição do trabalho de parto prematuro entre setembro/2010 a maio/2012. Utilizou-se a nifedipina sublingual na dose de ataque de 20mg e uma manutenção de 20mg por via oral a cada seis e oito horas. As variáveis avaliadas foram os batimentos cardio-fetais (BCF), frequência cardíaca materna (FCM), pressão arterial sistólica (PAS) e diastólica (PAD) e índice de líquido amniótico (ILA). Todas as variáveis foram avaliadas antes da administração da nifedipina e aproximadamente após 6h e cada 24h até alta hospitalar. Resultados: não houve modificação dos BCF (p=0,48) e da PAS (p=0,29). A FCM aumentou após 24h, mas sem significância estatística (p=0,08) retornando a níveis similares ao da admissão com 48h. A PAD diminuiua partir de 6h (p = 0,04)até 72h, mantendo-se constante. O ILA diminuiu significativamente em 24h, 48h e 72h. Conclusão: a utilização de altas doses de nifedipina para tocóliseocasio na diminuição dos níveis pressóricos diastólicos maternos e consequentemente diminuição do ILA, mas provavelmente sem repercussões clínicas.

Local references for ultrasound-estimated fetal weight based on 2, 211 singleton pregnancies in the City of Curitiba, south of Brazil / Referências locais para o peso fetal estimado por ultrassom baseado em 2. 211 gestações únicas na cidade de Curitiba, Sul do Brasil

Abstract Objective To develop reference curves of estimated fetal weight for a local population in Curitiba, South of Brazil, and compare them with the curves established for other populations. Methods An observational, cross-sectional, retrospective study was conducted. A reference model for estimated fetal weight was developed using a local sample of 2,211 singleton pregnancies with low risk of growth disorders and well-defined gestational age. This model was compared graphically with the Hadlock and Intergrowth 21st curves. Results Reference curves for estimated fetal weight were developed for a local population. The coefficient of determination was R2 = 99.11%, indicating that 99.11% of the fetal weight variations were explained by the model. Compared with Hadlock curves, the 50th, 90th, and 97th percentiles in this model were lower, whereas the 10th percentile nearly overlapped, and the 3rd percentile was slightly higher in the proposed model. The percentiles were higher in the proposed model compared with the Intergrowth 21st curves, particularly for the 3rd, 10th, and 50th percentiles. Conclusion We provide a local reference curve for estimated fetal weight. The proposed model was different from other models, and these differences might be due to the use of different populations for model construction.

Resumo Objetivo Desenvolver curvas de referência para o peso fetal estimado em uma população de Curitiba, Sul do Brasil, e compará-las com curvas estabelecidas para outras populações. Métodos Foi realizado um estudo observacional, transversal e retrospectivo. Um modelo de referência para o peso fetal estimado foi desenvolvido usando uma amostra local de 2.211 gestações únicas de baixo risco de distúrbios do crescimento e idade gestacional bem definida. Este modelo foi comparado graficamente com as curvas de Hadlock e Intergrowth 21st. Resultados As curvas de referência para o peso fetal estimado foram desenvolvidas para uma população local. O coeficiente de determinação foi de R2 = 99,11%, indicando que 99,11% das variações do peso fetal foram explicadas pelo modelo. Em comparação com as curvas de Hadlock, os percentis 50, 90, e 97 neste modelo foram inferiores, enquanto o percentil 10 quase se sobrepôs, e o percentil 3 foi ligeiramente superior no modelo proposto. Os percentis foram maiores no modelo proposto em comparação com as curvas do Intergrowth 21st, particularmente para os percentis 3, 10, e 50. Conclusão Fornecemos uma curva de referência local para o peso fetal estimado. O modelo proposto foi diferente de outros modelos, e essas diferenças podem ser devido ao uso de diferentes populações para a construção do modelo.

Pronóstico de la translucencia nucal fetal ≥ 5,5 mm en Lima, Perú

Introduction: First trimester screening has been performed for over 19 years in Peru, but there is no information on the outcomes. Objective: To determine the prognosis of an increased fetal nuchal thickness (NT). Patients: Ultrasound assessment of fetal nuchal thickness in 10 340 consecutive fetuses, 11 to 13 weeks gestation. Interventions. Fetal screening was performed by nine sonographers accredited by the Fetal Medicine Foundation (FMF); the FMF recommendations were followed. Data were recorded using Astraia software. Results: Thirty-seven (0.36%) fetuses presented NT ≥ 5.5mm. Eight patients were lost to follow up. The remaining 29 cases were included in this report. Prenatal karyotyping was performed in 18 cases; 17 of them were abnormal and presented trisomy 21 (7), trisomy 18 (4), monosomy X (5), and trisomy 22 (1). Four of the seven cases of trisomy 21 were born at term without major anomalies. Eleven did not have prenatal testing; one of them was a healthy newborn at term, the remaining 10 died in utero. Seventeen of the 19 known karyotypes were abnormal, which significantly differs from Kagan's results (89% vs 64%, p<0.05) Conclusion: Fetuses with nuchal translucency ≥ 5.5mm in our institution presented a worse prognosis in significantly more cases, compared to other reports.

Introducción. El tamizaje ecográfico del primer trimestre se realiza en el Perú desde hace 19 años, pero se carece de información del seguimiento de las pacientes evaluadas. Objetivos. Determinar el pronóstico de una translucencia nucal (TN) muy aumentada en el feto. Diseño. Estudio retrospectivo observacional. Pacientes. Se evaluó 10 340 fetos consecutivos entre las 11 y 13 semanas, en madres que llegaron al servicio de ecografía. Intervenciones. Evaluación por nueve ecografistas acreditados por la Fetal Medicine Foundation (FMF) siguiendo las recomendaciones de la FMF. Los resultados fueron registrados en el software Astraia. Resultados. Treintaisiete (0,36%) pacientes tuvieron TN ≥ 5,5 mm; ocho no regresaron a la institución y se desconoce el desenlace de su embarazo, por lo que no fueron considerados en el análisis posterior. De los 29 reportados, en 18 se realizó cariotipo prenatal, 17 de ellos fueron anormales (7 trisomías 21; 4 trisomías 18; 5 monosomías X; una trisomía 22). Cuatro de los 7 fetos con trisomía 21 nacieron a término sin malformaciones importantes; uno falleció durante el embarazo, otro embarazo fue interrumpido en el extranjero y se desconoce el desenlace de un caso. De los 11 que no se realizaron cariotipo prenatal, uno (3,2%) nació vivo y sano y los otros 10 fallecieron durante el embarazo. Diecisiete cariotipos de 19 conocidos fueron anormales, lo que difiere significativamente de los resultados de Kagan (89% vs 64%, p<0,05). Conclusiones. El pronóstico de los fetos con TN ≥5,5 mm en nuestra institución fue significativamente peor que el publicado en la literatura.

Reliability of society of fetal urology and Onen grading system in fetal hydronephrosis

OBJECTIVE: To evaluate the reliability of the Society for Fetal Urology (SFU) and Onen grading systems for fetal hydronephrosis in prenatal ultrasound according to the level of experience of the examiner. METHODS: We reviewed the prenatal ultrasound images of 146 fetuses (292 kidneys) that were diagnosed as having hydronephrosis between January 2005 and December 2014. One expert and two trainees assessed the prenatal renal ultrasound images using the SFU and Onen grading systems. The three examiners independently assessed each ultrasound image with both grading systems and reassessed the same images after 7 to 14 days. Cohen's kappa statistic was used to estimate intra- and inter-observer reliability in prenatal ultrasound images according to training level. RESULTS: The intra-observer reliability of the SFU grading system (κ 0.873–0.945) showed almost perfect agreement and that of the Onen grading system (κ 0.749–0.913) showed substantial to almost perfect agreement. The overall inter-observer reliability of the SFU grading system (κ 0.620–0.825) showed substantial to almost perfect agreement and that of the Onen grading system (κ 0.618–0.724) showed substantial agreement. The weighted kappa value of inter-observer agreement was 0.223 to 0.400 for SFU grade 1 and 0.064 to 0.346 for SFU grade 3. For Onen grading, the inter-observer agreement was 0.012 to 0.214 for grade 2 and 0.193 to 0.334 for grade 3. CONCLUSION: Both the SFU and Onen grading systems showed good intra-observer agreement in prenatal ultrasonography. The inter-observer agreement was decreased in SFU grades 1 and 3 and Onen grades 2 and 3. Therefore, more focus should be given to SFU grades 1 and 3 and Onen grades 2 and 3 for trainees.

Analysis of 2 cases of fetal congenital omphalo-enteric fistula with intestinal prolapse diagnosed by prenatal ultrasonography / 中国实用妇科与产科杂志

OBJECTIVE: To investigate the prenatal ultrasonographic manifestations of fetal congenital omphalo-enteric fistula with intestinal prolapse and improve the understanding and diagnosis of this disease.METHODS: A retrospective analysis of the prenatal ultrasonographic features was performed in 2 cases of fetal congenital omphalo-enteric fistula with intestinal prolapse comnfirmed after surgery between July 2016 and September 2017 in First Affiliated Hospital of Fujian Medical University,and the ultrasonographic manifestations were compared with postnatal looks and intraoperative conditions.Characteristics of prenatal ultrasonographic manifestations were summarized.RESULTS: Both cases were misdiagnosed as omphalocele by prenatal ultrasonography.Congenital omphalo-enteric fistula with intestinal prolapse was verified by surgery after delivery.A narrow pedicle,special bowel-shape and incomplete capsule were its prenatal ultrasonic characteristics.CONCLUSION: Fetal congenital omphalo-enteric fistula with intestinal prolapse is rare,but has particular prenatal ultrasonographic manifestations. Strengthening the understanding of the disease,reducing misdiagnosis and improving prenatal ultrasound diagnosis will provide help for prenatal counseling and clinical choice for time of delivery.

As consequências da restrição de crescimento intrauterino na estrutura e fluxo sanguíneo cerebral: uma revisão da literatura / The consequences of fetal growth restriction on brain structure and blood flow: a review

A Restrição de Crescimento Fetal (RCF) é definida como uma incapacidade do feto em alcançar seu potencial de crescimento, afeta 5-10% das gestações e está associada à alta morbimortalidade fetal e neonatal, principalmente a danos neurológicos. O objetivo dessa revisão foi levantar os estudos sobre a alteração cerebral nos fetos com RCF que possam estar relacionados aos danos neurológicos pós-natais já estabelecidos. Nesses fetos, há um crescimento desigual das estruturas cerebrais e reconhece-se que, na dependência de hipoxemia crônica e privação de nutrientes provocados pela insuficiência placentária, o feto tende a preferenciar o fluxo sanguíneo para o cérebro em detrimento de outros órgãos. Os resultados dessa revisão sugerem que o efeito protetor do aumento da perfusão sanguínea cerebral é diferente em cada estágio de deterioração fetal, propondo uma ordem hierárquica na proteção das diferentes funções/áreas cerebrais, e quanto mais severo esse acometimento, maiores mudanças estruturais cerebrais o feto apresentará.(AU)

Fetal growth restriction is defined as an inability of the fetus to reach its growth potential, affects 5-10% of pregnancies and is associated with high fetal and neonatal morbidity and mortality, mainly neurological damage. The aim of this review was to investigate brain alterations in fetus with fetal growth restriction that may be related to the already established postnatal neurological damage. In these fetus there is an uneven growth of the brain structures and it is recognized that in dependence on chronic hypoxemia and nutrient deprivation caused by placental insufficiency, the fetus tends to prefer the blood flow to the brain in detriment of other organs. The results of this review suggest that the protective effect of increased cerebral blood perfusion is different at each stage of fetal deterioration, proposing a hierarchical order in the protection of the different brain functions / areas and more severe this involvement, bigger structural changes the fetus will present.(AU)

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

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

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

Comparison of accuracy of prenatal ultrasonography and MRI in the diagnosis of congenital cystic aden-matiod malformation of the lung / 实用医学杂志

Objective To compare prenatal ultrasonography and MRI in view of the accuracy in the diag-nosis of congenital cystic adenmatiod malformation(CAMM)of the lung. Methods From January 2014 to Octo-ber 2015,68 fetus who were examined with both prenatal ultrasonography and MRI and diagnosed as CAMM by pathological findings after operation or autopsy in our study. Taking the final pathological diagnosis of fetal CCAM genotyping as the gold standard,the accuracy of prenatal ultrasonography and MRI were compared in the diagnosis of CAMM of the lung.P<0.05 was considered as statistically significant. Results The alignment degree of prena-tal ultrasound in the diagnosis of CAMM was significantly larger than that of MRI examination to the pathological di-agnosis.Conclusion Prenatal ultrasound is an important method for diagnosing CCAM before pregnancy with high accuracy and affordability.

Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

Prenatal ultrasound diagnosis of fetal variation of inferior vena cava / 第二军医大学学报

Objective To investigate the incidence rates of different fetal variations of inferior vena cava, and to compare the diameters and peak velocity of blood in the inferior vena cava between the normal and changed inferior vena cava. Methods Prenatal ultrasound data of 37 448 fetuses were retrospectively analyzed. We screened out the cases with variation of inferior vena cava, and calculated related incidence. Then the diameters and S-wave peak velocity of the inferior vena cava in fetuses of the two groups were measured and compared. Results We found 54 (1.44‰) cases of left inferior vena cava and 14(0.37‰) cases of double inferior vena cava. The diameter of normal fetal inferior vena cava was (2.71±0.42) mm and the peak velocity was (36.25±6.30) cm/s, the diameter of the left inferior vena cava was (2.70±0.45) mm and the peak velocity was (36.55±7.53) cm/s, both showing no significant difference when compared with the normal group (t=6.78, P>0.05; t=3.56, P>0.05). The diameter of double inferior vena cava was (2.72±0.50) mm and the peak velocity was (36.18±7.49) cm/s, showing no significant difference when compared with the normal group (t=10.43, P>0.05; t=7.01, P>0.05). Conclusion The incidence rates of left inferior vena cava and double inferior vena cava in fetuses have been found to be 1.44‰ and 0.37‰ respectively- and they have similar diameters and velocity with normal inferior vena cava.

Validación de un modelo de predicción de necesidad de cirugía cardiovascular o cateterismo terapéutico neonatal en fetos con cardiopatías congénitas / Validation of a prediction model for need of neonatal cardiac surgery or catheter-based therapy in fetuses with congenital heart defects

INTRODUCCIÓN: el diagnóstico prenatal de las cardiopatías congénitas, con nacimiento en centros especializados, permite disminuir la morbimortalidad. Se ha desarrollado un modelo predictivo de necesidad de tratamiento cardíaco intervencionistaneonatal (TCIN) (cirugía cardiovascular y/o cateterismo cardíacoterapéutico) a partir de hallazgos en vistas ecográficas de pesquisa del corazón fetal. Con este modelo sería posible seleccionar a quienes requieren derivación prenatal. OBJETIVOS: Validar dicho modelo predictivo. MÉTODOS: Se llevó a cabo un estudio de cohorte de validación, prospectivo y multicéntrico. Se realizó análisis de regresión logística univariado y multivariado, valoración de calibración del modelo mediante test de Hosmer-Lemeshow, y de discriminaciónmediante valoración de área bajo la curva ROC (Receiver OperatingCharacteristic). RESULTADOS: En 58 (51,8%) de 112 pacientes incluidos se requirió TCIN. La adecuación del ajuste del modelo no resultó estadísticamente significativa (p 0,232), y la discriminación fue buena (área bajo la curva ROC 0,833; IC95%: 0,757-0,909). Para un punto de corte de 0,3 (a partir del cual el riesgo de necesidad de TCIN resultó significativo en el modelo original), hubo sensibilidad de 96,6%, especificidad de 55,6%, valor predictivo positivo de 70% y negativo de 93,8%. CONCLUSIONES: La aplicación del modelo estudiado en fetos con cardiopatías congénitas es factible, presenta una capacidad diagnóstica satisfactoria y constituye una herramienta útil para el manejo perinatal.

INTRODUCTION: prenatal diagnosis of congenital heart diseases allows timely in-utero referral to specialized centersand reduces the risk of morbidity and mortality. A model was developed to predict the need of neonatal cardiac surgery or catheter-based therapy in fetuses with congenital heart defects.With this model, based on fetal cardiac ultrasonographic findings, it would be possible to select patients in need of prenatal referral. OBJECTIVES: To validate such predictive model. METHODS: A prospective multicenter cohort validation study was conducted.Univariate and multivariate logistic regression analysis was performed, evaluating calibration by Hosmer-Lemeshow test and discrimination by area under the curve (AUC) of the receiver operating characteristic (ROC). RESULTS: In 58 (51.8%) of the 112 patients, neonatal cardiac surgery or catheter-based therapy was needed. There was no significant difference between observed and predicted event rates (p 0.232), and discrimination wassatisfactory (AUC of the ROC 0.833; CI95%: 0.757-0.909). For a cut-off probability of 0.3 (that showed significant risk of need for neonatal cardiac invasive therapy in the original model), sensitivity was 96.6%, specificity 55.6%, positive predictive value 70% and negative predictive value 93.8%. CONCLUSIONS: Theapplication of this predictive model in fetuses with congenital heart defects is feasible, shows a good diagnostic ability and can be a useful tool for perinatal management.

Prenatal ultrasound diagnosis of fetal choledochal cysts / 中华全科医师杂志

Objective To assess the application of ultrasonography in prenatal diagnosis of fetal choledochal cysts.Methods The clinical data of 25 fetuses,who were diagnosed as fetal choledocho cysts using ultrasonography and followed up,were retrospectively analyzed.Results Among 25 cases,24 cases were confirmed as congenital choledochal cysts after normal delivery or abortion,and 1 case of liver cyst was misdiagnosed.The 24 cases' prenatal ultrasound showed liver cystic space occupying wihich was connected to intrahepatic bile duct or gallbladder.The cysts wall was thin,and the colour Doppler flow imaging CDFI showed that blood vessels circled around the cyst.In 24 fetuses with prenatal choledochal cysts,21 were fullterm birth,3 were aborted including 1 case with other congenital abnormalities.The size of choledochal cysts was not changed in 5 cases,and was enlarged with the gestational ages in remaining 16 cases fetuses.The choledochal cysts did not affect fetal growth and development.The newborn infants with congenital choledochal cysts were treated surgically within 8 months after birth and all recovered well.Conclusion Fetal choledochal cysts have typical sonographic manifestations.Ultrasonography can be used for prenatal diagnosis of congenital choledochal cysts,which can be successfully treated by surgery early after birth.

Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations / 대한악안면성형재건외과학회지

Ultrasonographic examination is widely used for screening of abnormal findings on prenatal screening. Cleft lip with or without cleft palate of the fetus can also be screened by using ultrasonography. Presence of abnormal findings of the fetal lip or palate can be detected by the imaging professionals. However, such findings may not be familiar to oral and maxillofacial surgeons. Oral and maxillofacial surgeons can use ultrasonographic imaging of fetal cleft lip with or without cleft palate to provide information regarding treatment protocols and outcomes to the parent. Therefore, surgeons should also be able to identify the abnormal details from the images, in order to setup proper treatment planning after the birth of the fetus. We report two cases of cleft lip with or without cleft palate that the official readings of prenatal ultrasonography were inconsistent with the actual facial structure identified after birth. Also, critical and practical points in fetal ultrasonographic diagnosis are to be discussed.

Screening ultrasonography in pregnancy

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester, it is important to confirm normal intrauterine pregnancy with viability, detect the abnormalities of uterus and adnexa, determine the number of fetuses and assess chorionicity and amnionicity in case of multiple pregnancy. After establishment of gestational age accurately by crown-rump length, thickened fetal nuchal translucency, absence of nasal bone, tricuspid regurgitation, reverse a wave of ductus venosus and cystic hygroma can be markers for screening of chromosomal abnormalities. In addition, the scan also offers an opportunity to detect gross structural abnormalities, which could help improve the prognosis by early prenatal intervention. In the second trimester, aneuploidy (trisomy 21, 18, 13, Turner syndrome) and genetic syndromes could be detected by major structural defects and soft markers. It is important to consider that many malformations may not be detected prenatally even by qualified practitioners and appropriate equipment, and to counsel patients about the potential for false-positive or false-negative results.

Diagnóstico prenatal de onfalocele mediante ultrasonografía / Prenatal ultrasound diagnosis of omphalocele

El onfalocele es un defecto de la pared abdominal a nivel de la línea media caracterizado por la herniación de contenido abdominal y recubierto por peritoneo y amnios. El objetivo de esta comunicación es presentar un caso de onfalocele con edad gestacional de 23 sem y su diagnóstico prenatal por ultrasonografía. Mediante diagnóstico ecográfico en una pesquisa realizada a una paciente de 40 años de edad en el segundo trimestre (edad gestacional de 23 semanas), mostró a nivel de la pared anterior fetal imagen ecogénica que protruye a través de la pared abdominal y a continuación se localiza el cordón umbilical. Se observó estómago desplazado y pérdida de la anatomía normal de la circunferencia abdominal. Se realizó asesoramiento genético en el Centro Municipal de Genética de Manzanillo. Anatomopatológicamente el feto presentó cuello corto y ancho, orejas de implantación baja, defecto del cierre del conducto onfalomesentérico, saco herniario ocupado por el lóbulo cuadrado del hígado y lecho vesicular, corazón con base ancha que muestra a la disección cava-cava, ausencia de tabique interventricular, estenosis de la válvula pulmonar y dilatación supravalvular de la arteria pulmonar, defecto amplio del tabique intraventicular y aorta cabalgada, lo que habla a favor de una cardiopatía troncoconal del tipo trilogía de Fallop, más el onfalocele. El diagnóstico prenatal por ultrasonografía es un método eficaz y fiable para el diagnóstico prenatal de onfalocele.

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient pesquiza made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Anatomopatolágicamente the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele.

Inequidades en el diagnóstico de anomalías congénitas mayores en recién nacidos en Cali, Colombia / Inequities in the diagnosis of major congenital anomalies in newborns in Cali, Colombia

Antecedentes: Las anomalías congénitas mayores (ACM) están presentes en el 2-3 por ciento de los nacidos vivos. La mayoría de ellas diagnosticables mediante ecografía prenatal (EcoPN). Los países en desarrollo presentan inequidades en el acceso al procedimiento. Objetivos: Determinar las inequidades existentes en la realización de EcoPN en las madres de recién nacidos (RN) con ACM hospitalizados en dos unidades de cuidado intensivo neonatal (UCIN) e identificar las inequidades en el diagnóstico de ACM en las madres a quienes les fue realizada al menos una EcoPN. Métodos: Estudio transversal en RN con ACM diagnosticables por EcoPN, hospitalizados en dos UCIN de Cali, Colombia, entre 2005 y 2009. Se determinó el índice de concordancia (kappa) entre variables sociodemográficas y el diagnóstico de ACM prenatal y definitivo. Se determinaron las asociaciones entre ausencia de EcoPN y del diagnóstico de ACM con factores sociodemográficos y aseguramiento en salud. Resultados: Se incluyeron 404 casos que presentaron 573 anomalías congénitas. El 51,7 por ciento (IC95 por ciento 46,7 por ciento -56,7 por ciento) tuvieron al menos una EcoPN; de éstos el 31,1 por ciento (IC95 por ciento 24,9 por ciento -37,9 por ciento) no tuvo diagnóstico de ACM. La ausencia de EcoPN estuvo asociada a la afiliación al régimen de salud subsidiado, la no afiliación al sistema de salud, a las madres procedentes de municipios diferentes a la capital de la provincia, de otras provincias y del área rural. Hubo asociaciones similares para la ausencia de diagnóstico de alguna ACM en la EcoPN. Conclusiones: Se detectaron inequidades en la realización EcoPN y en el diagnóstico de ACM en las madres de mayor vulnerabilidad social y demográfica. Se debe mejorar el acceso a los servicios de EcoPN en Colombia para cerrar estas disparidades sociales.

Background: Major Congenital Anomalies (MCA) are present in 2-3 percent of live births. Most of these are diagnosable by prenatal ultrasound (PNUS). Developing countries have inequities in access to this screening test. Objectives: To determine existing inequities access to PNUS in mothers of newborns (NB) with MCA hospitalized in two neonatal intensive care units (NICU) and to identify inequities in the diagnosis of MCA among mothers to whom it was made at least one PNUS. Methods: Cross-sectional study in NB with MCA diagnosable by PNUS hospitalized in two NICUs of Cali, Colombia, between 2005 and 2009. The index of agreement (kappa) between prenatal diagnosis and definitive MCA was calculated. It was established associations between absence of PNUS and diagnosis of MCA with socio-demographic factors and health insurance schemes. Results: 404 cases with 573 MCA were included. 51.7 percent (95 percent CI: 46.7 percent -56.7 percent) had at least one PNUS; of these 31.1 percent (95 percent CI: 24.9 percent -37.9 percent) had no diagnosis of MCA. The absence of PNUS was associated with affiliation to the subsidized health scheme, no-affiliation to the health system, mothers from municipalities different to the capital of the province, from other provinces and from rural areas. There were similar associations for the absence of a diagnosis of MCA in PNUS. Conclusions: It was detected inequities in access to the PNUS and in diagnosis of MCA for mothers of greater social and demographic vulnerability. The access to services of PNUS in Colombia should been improved, in order to reduce these social disparities.

Clinical application of imaging diagnosis in complicated congenital heart disease / 国际儿科学杂志

With the continuous development of imaging techniques,patients with congenital heart dis-ease,especially in complicated congenital cardiac malformations,have more choices for detection methods of ear-ly diagnosis. Nowadays,the widely used diagnostic imaging methods included echocardiography,CT,MRI,cardi-ac catheterization,and prenatal ultrasound examination. Clinicians should choose the appropriate means of ima-ging test depending on the situation. This article will focus on the clinical application of imaging diagnosis in complicateol congenital heart disease.