Non-RhD alloimmunization in pregnancy: an updated review.

RhD alloimmunization in pregnancy is still the main cause of hemolytic disease of the fetus and neonate (HDFN). Nevertheless, there are other antigens that may be associated with the occurrence of this phenomenon and that have been growing in proportion, given that current prevention strategies focus only on anti-RhD antibodies. Although not widespread, the screening and diagnostic management of the disease caused by these antibodies has recommendations in the literature. For this reason, the following review was carried out with the objective of listing the main red blood cell antigen groups described - such as Rh, ABO, Kell, MNS, Duffy, Kidd, among others - addressing the clinical importance of each one, prevalence in different countries, and recommended management when detecting such antibodies during pregnancy.

Non-RhD alloimmunization in pregnancy: an updated review

Abstract RhD alloimmunization in pregnancy is still the main cause of hemolytic disease of the fetus and neonate (HDFN). Nevertheless, there are other antigens that may be associated with the occurrence of this phenomenon and that have been growing in proportion, given that current prevention strategies focus only on anti-RhD antibodies. Although not widespread, the screening and diagnostic management of the disease caused by these antibodies has recommendations in the literature. For this reason, the following review was carried out with the objective of listing the main red blood cell antigen groups described — such as Rh, ABO, Kell, MNS, Duffy, Kidd, among others — addressing the clinical importance of each one, prevalence in different countries, and recommended management when detecting such antibodies during pregnancy.

Prevalence of Congenital Anomaly and Its Relationship with Maternal Education and Age According to Local Development in the Extreme South of Brazil.

Congenital anomalies (CA) contribute to disabilities and health conditions throughout life. Furthermore, they can cause emotional distress to the mothers and children, who may also experience limitations in individual and social development. This study investigated the prevalence of CA and the relationship with maternal education and age according to local development in the extreme south of Brazil. This is a retrospective observational study with birth data from the Live Birth Information System from 2000 to 2017. The association between age and maternal education with the presence of CA was verified using multiple Poisson regression for robust variances in models adjusted for those variables with a preliminary significant association. A total of 5131 (1.5%) had some CA identified at birth between 2000 and 2017. Only advanced age (≥36 years) was associated with CA regardless of macro-region development (p ≤ 0.001). The highest risk was observed in regions with medium development (RR = 1.60; 95% CI 1.30−1.97). Maternal education (<8 years of study) was associated with CA only in mothers from macro-regions with very high development (RR = 1.27; 95% CI 1.03−1.54). These analyses confirmed that women of advanced age are at greater risk of having children with a CA regardless of maternal education and local development, but social characteristics can also have an influence, as regions with higher development had lower prevalence of CA.

Adverse Maternal Fetal Environment Partially Mediates Disparate Outcomes in Non-White Neonates with Major Congenital Heart Disease.

OBJECTIVE: To determine whether differential exposure to an adverse maternal fetal environment partially explains disparate outcomes in infants with major congenital heart disease (CHD). STUDY DESIGN: Retrospective cohort study utilizing a population-based administrative California database (2011-2017). Primary exposure: Race/ethnicity. Primary mediator: Adverse maternal fetal environment (evidence of maternal metabolic syndrome and/or maternal placental syndrome). OUTCOMES: Composite of 1-year mortality or severe morbidity and days alive out of hospital in the first year of life (DAOOH). Mediation analyses determined the percent contributions of mediators on pathways between race/ethnicity and outcomes after adjusting for CHD severity. RESULTS: Included were 2747 non-Hispanic White infants (reference group), 5244 Hispanic, and 625 non-Hispanic Black infants. Hispanic and non-Hispanic Black infants had a higher risk for composite outcome (crude OR: 1.18; crude OR: 1.25, respectively) and fewer DAOOH (-6 & -12 days, respectively). Compared with the reference group, Hispanic infants had higher maternal metabolic syndrome exposure (43% vs 28%, OR: 1.89), and non-Hispanic Black infants had higher maternal metabolic syndrome (44% vs 28%; OR: 1.97) and maternal placental syndrome exposure (18% vs 12%; OR, 1.66). Both maternal metabolic syndrome exposure (OR: 1.21) and maternal placental syndrome exposure (OR: 1.56) were related to composite outcome and fewer DAOOH (-25 & -16 days, respectively). Adverse maternal fetal environment explained 25% of the disparate relationship between non-Hispanic Black race and composite outcome and 18% of the disparate relationship between Hispanic ethnicity and composite outcome. Adverse maternal fetal environment explained 16% (non-Hispanic Black race) and 21% (Hispanic ethnicity) of the association with DAOOH. CONCLUSIONS: Increased exposure to adverse maternal fetal environment contributes to racial and ethnic disparities in major CHD outcomes.

Experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado / Experience of mothers after the diagnosis of congenital malformation and the expectations of care

RESUMO Objetivo compreender a experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado da rede de saúde e social. Métodos pesquisa qualitativa com embasamento na Fenomenologia Social, com a participação de seis mães residentes em municípios de fronteira, por meio de entrevista semiestruturada. Resultados os relatos trouxeram informações sobre o diagnóstico de malformação congênita, a experiência da gravidez, o tornar-se mãe de criança com malformação e as expectativas de cuidado de saúde e social. Conclusão o grupo social estudado experienciou o diagnóstico de malformação com sofrimento, repercussões emocionais e com mudanças no cotidiano vivido. Contribuições para a prática: a comunicação por parte da equipe de saúde contribui para a compreensão e enfrentamento da malformação. Destacou-se a importância do apoio da rede familiar e social. É preciso desenvolver competências profissionais relacionadas à comunicação e a maiores investimentos para a formação e condições de trabalho que possibilitem maior tempo destinado ao atendimento deste público.

ABSTRACT Objective to understand the experience of mothers after the diagnosis of congenital malformation and the expectations of care from the health and social network. Methods qualitative research based on Social Phenomenology, with the participation of six mothers living in border towns, by means of semi-structured interviews. Results the reports brought information about the diagnosis of congenital malformation, the experience of pregnancy, becoming a mother of a child with malformation and the expectations of health and social care. Conclusion the social group studied experienced the diagnosis of malformation with suffering, emotional repercussions and changes in their daily lives. Contributions to practice: communication by the health team contributes to understanding and facing the malformation. The importance of the family and social network support was highlighted. It is necessary to develop professional skills related to communication and to make more investments in training and working conditions that allow more time for the care of this public.

[Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis].

OBJECTIVE: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. METHODS: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is presented on ways to expand this field of knowledge. CONCLUSIONS: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.

TITULO: ANOMALÍAS GENITALES: CONTEXTUALIZACIÓN DE UN CAMPO OLVIDADO EN EL DIAGNÓSTICO PRENATAL. OBJETIVO: Hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. METODOS: A partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de esta área del conocimiento médico. CONCLUSIONES: En comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and methods: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is made on ways to improve the specialty. Conclusion: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.

Noninvasive prenatal testing: benefits and limitations of the available tests.

BACKGROUND: The „gold standard“ for prenatal diagnosis of aneuploidies is provided by the karyotype, which has high accuracy, but is dependent on invasive procedures, which generate risk of fetal loss. Different methodologies of development of noninvasive prenatal genetic tests (NIPT) for tracking aneuploidies, including sex chromosomes, have been made available for clinical use, for some microdeletions and triploids and for exclusion of paternity. These exams make use of three methodological tools: s-MPS, t-MPS and SNP. Genetic tests, despite the high cost, cover a broader range of clinical applications, have the advantage that can be performed early, with high accuracy, and low false positive rate. Type of article: Review. SETTING: Department of Obstetrics and Gynecology, Science College of Santa Casa of São Paulo (FSMSCSP), São Paulo-SP, Brazil. DESIGN AND METHODS: This study was a non-asystematic review, which searched PubMed / MEDLINE as a research source and aimed at the compilation of data, which allowed approaching the evolution, the technical and methodological advances of the available tests, the recognition of its benefits, limitations and future perspectives on NIPT. CONCLUSION: NIPT stand out for being applied earlier during the pregnancy with high accuracy and low false-positive rates, including a broad spectrum of clinical applications. The t-MPS is a recent technique used to evaluate aneuploidy that shows greater accuracy and lower cost than the s-MPS, but that is limited to being applied only to the most common aneuploidies. The SNP technique can search for more genetic conditions, besides presenting better accuracy.

Fetoscopia y fotocoagulación láser en el manejo del síndrome de transfusión feto fetal: serie de los primeros casos tratados en el Perú / Fetoscopy and laser photocoagulation in the treatment of twin-to-twin transfusion syndrome: series of cases treated in Peru

Twin-to-twin transfusion syndrome is a severe complication of twin monochorial pregnancies manifested with one hypovolemic fetus (donor) and another hypervolemic fetus (receiver). Perinatal mortality is about 90 to 100% if untreated. The accepted treatment is fetoscopy and selective laser photocoagulation of the placental shunts that connect both twins. Currently, this specialized procedure is only performed in our institution. We present the first cases of monochorionic twin pregnancy complicated with twin-to-twin transfusion syndrome that underwent laser photocoagulation and fetoscopy.

El síndrome de transfusión feto fetal es una complicación severa de los embarazos gemelares monocoriónicos, que fisiopatológicamente se manifiesta con un feto hipovolémico (donante) y un feto hipervolémico (receptor). Conlleva una mortalidad perinatal de 90 a 100% si no es tratado. El tratamiento aceptado es la fetoscopia y fotocoagulación láser selectiva de las anastomosis placentarias que conectan ambos gemelos, procedimiento especializado que se viene realizando solo en nuestra institución. Se presenta los primeros casos de gestación gemelar monocoriónica complicado con síndrome de transfusión feto fetal sometidos a fetoscopia y fotocoagulación laser.

Revisión narrativa. Complicaciones en la madre, feto y neonato, derivadas del consumo de cocaína durante la gestación / Narrative review. Complications in the mother, fetus, and neonate due to cocaine use during pregnancy / Revisão narrativa. Complicações na mãe, feto e neonato, derivadas do consumo de cocaína durante a gestação

Latinoamérica reporta en las gestantes un consumo de alcohol del 44%, cigarrillo 51.8%, anfetaminas 8.3%, cocaína 2.5% y marihuana 2%. Las gestantes consumidoras representan un problema para las instituciones prestadoras de salud que exige intervenciones intersectoriales e interdisciplinarias por las consecuencias físicas, psicológicas, familiares y sociales que conlleva para la madre, el neonato y el infante. En esta revisión se describen las complicaciones físicas y conductuales en la madre, el feto y el neonato, que surgen por el consumo de cocaína y sus derivados durante la gestación. Se realizó una revisión narrativa a partir de la búsqueda de información científica indexada en las bases de datos Pubmed, Lilacs, Ovid, Science Direct entre el 2000 y el 2015, se utilizaron palabras clave con el fin de realizar una búsqueda estandarizada de información y se incluyeron artículos como productos de investigaciones, revisiones sistemáticas, metaanálisis. Las gestantes consumidoras de cocaína entrañan un factor de riesgo para la salud pública, con consecuencias físicas, psicológicas, familiares, sociales para la madre, el neonato y el infante, tales como hipertensión gestacional, desprendimiento de placenta, retardo del crecimiento intrauterino y síndrome de abstinencia neonatal. Es necesario que los profesionales de salud, las instituciones hospitalarias y Secretarías locales de salud elaboren, adapten y adopten algún protocolo de notificación, manejo y seguimiento a las madres consumidoras y de sus hijos para promover hábitos saludables, prevención de complicaciones obstétricas, neonatales y seguimiento de repercusiones en el desarrollo y crecimiento de los hijos.

Latin America reported the following data regarding substance abuse in pregnant women: 44% alcohol, 51.8% tobacco, 8.3% amphetamines, 2.5% cocaine and 2% cannabis. Pregnant women using these substances are a risk factor for health institutions due to the physical, psychological, social, and family consequences for the mother and the newborn infant. Thus, intersectoral and interdisciplinary interventions are necessary to treat this problem. This review describes the physical and behavioral complications in the mother, fetus, and neonate as a result of the use of cocaine and its derivatives during pregnancy. A narrative review was performed by means of a search of journals indexed in PubMed, Lilacs, Ovid, Science Direct from 2000 to 2015. Keywords were used in order to perform a standardized literature search, and data from research articles, systematic reviews, meta-analyses were included. Pregnant consumers of cocaine involve a risk factor for public health due to the physical, psychological, family, and social consequences for the mother, the newborn, and infant, such as high blood pressure, abruption, intrauterine growth retardation, and neonatal abstinence syndrome. It is necessary for local health departments to develop, adopt, and adapt reporting, management, and monitoring protocols for consuming mothers and their children in order to promote healthy habits, prevention of obstetrics and neonatal complications and to monitor the impact on growth and development in children.

Latino-américa reporta nas gestantes um consumo de álcool de 44%, cigarro 51.8%, anfetaminas 8.3%, cocaína 2.5% e maconha 2%. As gestantes consumidoras representam um problema para as instituições prestadoras de saúde que exige intervenções inter-setoriais e interdisciplinares pelas consequências físicas, psicológicas, familiares e sociais que implica para a mãe, o neonato e o infante. Nesta revisão se descrevem as complicações físicas e de condutas na mãe, o feto e o neonato, que surgem pelo consumo de cocaína e seus derivados durante a gestação. Se realizou uma revisão narrativa a partir da busca de informação científica indexada nas bases de dados Pubmed, Lilacs, Ovid, Science Direct entre 2000 e 2015, se utilizaram palavras chave com o fim de realizar uma busca padrão de informação e se incluíram artigos como produtos de investigações, revisões sistemáticas, meta-análise. As gestantes consumidoras de cocaína entranham um fator de risco para a saúde pública, com consequências físicas, psicológicas, familiares, sociais para a mãe, o neonato e o infante, tais como hipertensão gestacional, desprendimento de placenta, retardo do crescimento intrauterino e síndrome de abstinência neonatal. É necessário que os profissionais de saúde, as instituições hospitalares e Secretarias locais de saúde elaborem, adaptem e adotem algum protocolo de notificação, manejo e seguimento às mães consumidoras e de seus filhos para promover hábitos saudáveis, prevenção de complicações obstétricas, neonatais e seguimento de repercussões no desenvolvimento e crescimento dos filhos.

Hidrops fetal por flutter auricular: a propósito de un caso / Hidrops fetalis due to atrial flutter: Case study

Resumen Las arritmias en el período fetal que producen falla cardíaca conllevan aumento de la morbilidad y mortalidad fetal. La intervención sobre el feto dependerá de la edad gestacional al momento del diagnóstico, del tipo de arritmia, su repercusión y factores de riesgo asociados. Se presenta el caso clínico de un recién nacido con hidrops por flutter auricular. Se analiza la oportunidad y disponibilidad de su tratamiento.

Summary Arrhythmias in the fetal period that cause heart failure involve increased fetal morbidity and mortality. Intervention on the fetus depends on gestational age at the time of diagnosis, type of arrhythmia, its impact, and associated risk factors. The clinical case of a new born with hydrops fetalis due to atrial flutter is presented in the study, and opportunity and availability of treatment are analysed.

Hidronefrose na criança / Hydronephrosis in children

A hidronefrose é uma afecção comum na criança e consiste na dilatação do sistema coletor renal, podendo ser congênita, e por isso denominada hidronefrose fetal, ou pode ser adquirida, o que é menos frequente. A hidronefrose fetal pode ser diagnosticada ainda na vida intrauterina, por meio da ultrassonografia obstétrica. Dilatações leves a moderadas podem resolver-se espontaneamente antes ou após o nascimento. Porém,dilatações maiores podem ser causa de infecção urinária, causar dano ao parênquima renal e provavelmente irão requerer tratamento cirúrgico. As principais causas de hidronefrose fetal que persistem após o nascimento são: estenose de junção ureteropélvica, refluxo vesicoureteral, estenose da junção ureterovesical, duplicações pieloureterais, associado ou não a ureterocele, e válvula de uretra posterior. Em relação à hidronefroseadquirida, a etiologia mais comum é a angulação do ureter proximal por vaso polar anômalo, porém também pode ser devida à ureterolitíase, que é incomum. Nesses casos normalmente diagnostica-se a hidronefrose devido à propedêutica de dor abdominal crônica recorrente em crianças maiores.Na conduta inicial na hidronefrose fetal, logo após o nascimento, deve-se realizar ultrassonografia das vias urinárias, para confirmar eclassificar o grau de hidronefrose. De acordo com os achados ultrassonográficos é que se decidirá se será necessário estender a propedêutica ou manter conduta expectante. Na condução subsequente dessas crianças é importante o acompanhamento do nefrologista-pediatra e do cirurgião-pediatra, convindo que sejam tratadas em centros especializados, com todos os recursos necessários para o diagnóstico e tratamento adequado.

Hydronephrosis is a common illness in children and consists in the dilatation of the renal collector system. It may be congenital, and in this case is called fetal hydronephrosis, or it can be acquired, which is less frequent. The fetal hydronephrosis may be diagnosed during the intrauterine life through obstetric ultrasound. Mild to moderate dilatations may resolve spontaneously before or after birth. However, larger dilatations can be causes of urinary tract infection, damage to the renal parenchyma, and may require surgical treatment. The main causes of persistent fetal hydronephrosis after birth are ureteropelvic junction stenosis, vesicoureteral reflux, ureterovesical junction stenosis, ureteric duplication associated or not with ureterocele, and posterior urethra valve. In relation to the acquired hydronephrosis, the most common etiology is the angulation of the proximal ureter resulting from an anomalous polar vessel; however, it can also be due to ureterolithiasis, which is uncommon. In these cases, the hydronephrosis is usually diagnosed as the result of propaedeuticsof chronic recurrent abdominal pain in older children. The initial conduct in cases of fetal hydronephrosis, shortly after birth, is the use of urinary tract ultrasound to confirm and classify the degree of hydronephrosis. The ultrasound findings will assist to decide if it is necessary to extend the propaedeutics or maintain a waiting conduct. The follow-up by a nephrologist and pediatric-surgeon in the subsequent treatment of these children is important when treated in specialized centers with all theneeded resources for proper diagnosis and treatment.

Dicephalus dipus dibrachius twins: report of an autopsy case.

Dicephalus dipus dibrachius twins are a rare form of conjoined twins. An autopsy of conjoined dicephalus twins is reported. The diagnosis was performed during the pregnancy and the family received a judicial authorization for termination of pregnancy. The preterm newborn progressed to cardiac arrest and died following a court order to terminate the pregnancy. The conceptus presented two arms, two legs, a trunk, two heads, and a single umbilical cord. The two spinal columns presented vertebral fusion in the sacral region. The heart exhibited complex malformations. The external genitalia were female; and cytogenetic analysis confirmed female sex (46, XX). This analysis also corroborated the etiopathogenic hypotheses described for this abnormality, which proposes failures in embryonic formation rather than specific chromosomal alterations. Current identification of cases by ultrasound permits medical management and multidisciplinary action with the family, enabling the legal termination of pregnancy.

Improvement of motor function and decreased need for postnatal shunting in children who had undergone intrauterine myelomeningocele repair / Melhora em função motora e necessidade reduzida de shunts pós-natais em crianças submetidas a cirurgia fetal uterina da mielomeningocele

Objective To compare neuromotor development between patients who did and those who did not undergo intrauterine myelomeningocele repair. Methods Children with myelomeningocele aged between 3.5 and 6 years who did undergo intrauterine repair (Group A, n=6) or not (Group B; n=7) were assessed for neuromotor development at both anatomical and functional levels, need for orthoses, and cognitive function. Results Intrauterine myelomeningocele repair significantly improved motor function. The functional level was higher than the anatomical level by 2 or more spinal segments in all children in Group A and 2 children in Group B, with a significant statistical difference between groups (p<0.05). Five children in Group A and one in Group B were community ambulators. Conclusion Despite the small sample, it was observed that an improvement of motor function and decreased need for postnatal shunting in the 6 children who had undergone intrauterine myelomeningocele repair. .

Objetivo Comparar o desenvolvimento neuromotor de pacientes submetidos à cirurgia fetal intrauterina da mielomeningocele ao de pacientes não submetidos ao procedimento. Métodos Foram avaliados: o desenvolvimento neuromotor (descrevendo o nível anatômico e motor funcional), o tipo de marcha, a necessidade de órteses e o nível cognitivo de crianças com mielomeningocele entre 3,5 e 6 anos de idade, submetidas (Grupo A; n=6) ou não submetidas (Grupo B; n=7) à cirurgia fetal intra-uterina. Resultados A função motora apre-sentou melhora significante, com nível funcional mais elevado em dois ou mais segmentos em relação ao nível anatômico em todas as crianças do Grupo A e em duas crianças do Grupo B, com diferença estatística entre os grupos (p<0.05). Cinco crianças do Grupo A e uma do grupo B eram deambuladoras comunitárias. Conclusão Apesar da pequena amostragem, nos 6 casos de cirurgia prenatal observouse melhora da função motora e menor necessidade de shunts pós-natais. .

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

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.

Rabdomiomas cardíacos fetais: análise de cinco casos / Fetal cardiac rhabdomyoma: analysis of five cases

OBJETIVO: analisar o diagnóstico, evolução e conduta terapêutica em cinco casos de tumores cardíacos primários diagnosticados no período pré-natal. MÉTODOS: no período de Janeiro 1997 a Dezembro 2008, 7.989 gestantes foram submetidas à avaliação ultrassonográfica morfológica fetal devido à presença de fatores de risco para malformações fetais. Foram selecionados os casos com massas hipercogênicas intracardíaca maiores que 1 mm diagnosticados na avaliação ultrassonográfica do coração fetal. O diagnóstico diferencial dos tumores foi realizado segundo as características ultrassonográficas das massas. RESULTADOS: em cinco fetos foram diagnosticadas massas hiperecogênicas intracardíaca correspondendo a uma taxa de prevalência de 0,06 por cento. A idade gestacional variou entre a 28ª e a 36ª semanas (média=31) e a idade materna variou de 23 a 45 anos (média=34,2). A localização mais frequente das massas foi o ventrículo esquerdo (100 por cento). Ecograficamente, todas as massas eram hipercogênicas, homogêneas, únicas ou múltiplas e bem delimitadas, compatíveis com diagnóstico de um rabdomioma. Nos casos em que os diâmetros das massas foram menores que 20 mm, a conduta foi expectante e não houve complicações no período pré-natal. Um caso com tumor de grande volume apresentou arritmia e insuficiência cardíaca na 35ª semana de gestação, sendo indicada a interrupção da gestação. Em 80 por cento dos casos foi observada associação com esclerose tuberosa no seguimento pós-natal. A regressão dos tumores cardíacos ocorreu em três casos (60 por cento) durante um seguimento médio de três anos. Todos os recém-nascidos eram do sexo masculino e sem antecedentes familiares de esclerose tuberosa. CONCLUSÕES: a avaliação ultrassonográfica morfológica fetal é a principal forma de detecção precoce dos tumores cardíacos primários. A avaliação cardíaca fetal é fundamental para a caracterização morfológica diferencial das massas cardíacas e para avaliação funcional cardíaca...

PURPOSE: to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period. METHODS: during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk factors for fetal malformations. Fetuses with hyperechogenic intracardiac masses larger than 1 mm diagnosed by ultrasound evaluation of the fetal heart, were selected for study. The differential diagnosis between the different tumor types was made on the basis of the ultrasound characteristics of the masses. RESULTS: five fetuses with hiperechogenic intracardiac masses were diagnosed, corresponding to a 0.06 percent prevalence rate. Gestational age ranged from 28 to 36 weeks (mean: 31), and maternal age ranged from 23 to 45 years (mean: 34,2). The most frequent location of the masses was the left ventricle (100 percent). Echographically, all masses were single or multiple, hyperechogenic, homogeneous and well delimited, compatible with a diagnosis of rhabomyoma. In cases in which the diameters of the masses were less than 20 mm, an expectant conduct was followed and no complications occurred during the prenatal period. One case with a huge tumor presented arrhythmia and cardiac insufficiency during the 35 gestational weeks, and the interruption of pregnancy was indicated. Tuberous sclerosis was associated in four cases (80 percent) and the diagnosis was confirmed during the postnatal follow-up. CONCLUSIONS: fetal morphological ultrasonography is the main form of early detection of primary cardiac tumors. The fetal cardiac evaluation is of fundamental importance for the differential morphological characterization of cardiac masses and for the evaluation of cardiac function. Rhabdomyomas are the most common type of fetal tumor. An expectant pre and postnatal conduct is followed, with a low risk of complications and with the possibility of spontaneous...

Rastreamento de cardiopatias congênitas associadas ao diabetes mellitus por meio da concentração plasmática materna de frutosamina / Congenital cardiopathies screening associated with diabetes mellitus using maternal fructosamine plasma concentration

OBJETIVO: avaliar a importância da concentração plasmática materna de frutosamina como indicador de cardiopatias congênitas fetais, em gestações complicadas pelo diabetes mellitus. MÉTODOS: o estudo retrospectivo incluiu 91 gestantes portadoras de diabetes mellitus, as quais foram submetidas à ecocardiografia fetal de rotina em centro universitário de referência em Medicina Fetal. Foram selecionadas 65 pacientes que apresentavam diabete pré-gestacional e registro em prontuário médico de frutosamina plasmática anterior ao exame ultrassonográfico. A primeira dosagem registrada foi confrontada com o resultado da ecocardiografia fetal de rotina, realizada por médico especialista do serviço. A presença ou ausência de achados ecográficos de cardiopatia congênita (AECC) foi relacionada aos níveis plasmáticos de frutosamina, por meio de teste de médias, e sua acuidade para AECC verificada por curva ROC. Foram discutidos como pontos de corte os valores da concentração plasmática materna de frutosamina de 2,68, 2,9 e 2,23 mmol/L, que são, respectivamente, o valor de referência local do laboratório, o do kit de dosagem empregado e o de maior acurácia global. RESULTADOS: o AECC foi encontrado em 52,3 por cento dos fetos. A primeira dosagem de frutosamina durante o pré-natal aconteceu em média com 20,4±8,0 semanas de gestação. A capacidade da concentração materna de frutosamina em identificar fetos com AECC foi significante (p<0,0001) e apresentou área sob a curva ROC de 0,78 (IC95 por cento=0,66-0,89). A concentração plasmática de frutosamina de 2,9 mmol/L apontou AECC com maior especificidade e, porém, com maior porcentual de falso-negativo (96,8 e 55,9 por cento). Valores acima de 2,68 mmol/L associam-se à probabilidade de 4,6 em identificar fetos com AECC em relação a valores inferiores, com sensibilidade de 58,8 por cento e especificidade de 87,1 por cento. O valor de 2,23 mmol/L mostrou-se de maior acurácia global entre os três pontos sugeridos, ...

PURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3 percent of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p<0.0001) and had an area under the ROC curve of 0.78 (95 percentCI=0.66-0.89). The 2.9 mmol/L plasma concentration of fructosamine revealed EFCC with better specificity, but with a higher percentage of false-negative results (96.8 and 55.9 percent). Values above 2.68 mmol/L were associated with a probability of 4.6 to identify fetuses with EFCC compared with lower values, with 58.8 percent of sensitivity and 87.1 percent, specificity. The value of 2.23 mmol/L proved to be the most overall accurate of the three values ...

Emissões otoacústicas em lactentes expostos a infecção intra-útero / Otoacoustic emissions in infants exposed to intrauterine infection

OBJETIVO: Analisar as Emissões Otoacústicas (EOA) em lactentes expostos à infecção intra-útero. MÉTODOS: Foi realizada a captação das EOA por transiente (EOAT) e das EOA produto de distorção (EOAPD) em 40 lactentes: 14 lactentes portadores e/ou expostos a algum tipo de infecção intra-útero (Grupo Estudo) e 26 lactentes sem intercorrências e sem indicadores de risco auditivo (Grupo Comparação). Os critérios de inclusão foram: Grupo Comparação: lactentes nascidos a termo, saudáveis e sem indicador de risco para alteração auditiva; Grupo Estudo: lactentes nascidos a termo, ou com idade gestacional corrigida entre 37 e 41 semanas na data de avaliação e portador ou exposto a algum tipo de infecção intra-útero. A análise estatística do conjunto de dados foi efetuada utilizando os testes estatísticos não paramétricos de Wilcoxon e Mann-Whitney, e a técnica de intervalo de confiança para média. RESULTADOS: Foram observados menores níveis de resposta e relação sinal/ruído das EOAT e EOAPD no Grupo Estudo em relação ao Grupo Comparação, com valores estaticamente significantes para as EOAPD em 8000 Hz e para EOAT em 1,5 Hz. CONCLUSÃO: A exposição à infecção intra-útero pode atenuar o nível de resposta das emissões otoacústicas no período neonatal.

PURPOSE: To analyze otoacoustic emissions (OAE) in infants exposed to intrauterine infection. METHODS: Transient OAE (TEOAE) and distortion product OAE (DPOAE) were performed in 40 infants: 14 with and/or exposed to some type of congenital infection (Study Group) and 26 without exposition and with no risk factors for hearing loss (Control Group). Inclusion criteria were: Control Group: healthy full-term infants, with no risk factors for hearing loss; Study Group: full-term infants or preterms with corrected gestational age between 37 and 41 weeks at the date of assessment, exposed to some type of intrauterine infection or with congenital infection. The statistical analysis of the data set was performed using the non-parametric tests of Wilcoxon and Mann-Whitney, and the technique of confidence interval for the mean. RESULTS: Lower levels of response and signal/noise ratio in TEOAE and DPOAE were observed in the Study Group, when compared to the Control Group, with significant statistical values for DPOAE in 8 kHz, and for TEOAE in 1.5 kHz. CONCLUSION: The exposure to intrauterine infections might attenuate the response level in OAE during the neonatal period.