Post-traumatic stress disorder and congenital anomalies in prenatal care / Transtorno de estresse pós-traumático e anomalias congênitas no pré-natal

Abstract Objective: to assess post-traumatic stress disorder (PTSD) symptoms in pregnant women diagnosed with congenital anomaly. Methods: his is a quantitative and cross-correlational study. The sample consisted of 111 pregnant women diagnosed with congenital anomaly between 2013 and 2014. We used a semi-structured questionnaire and the Impact of Events Scale - Revised (IES-R). For statistical analysis, the chi-square test, Student's t test or Mann-Whitney test, Cronbach Alpha coefficients, Pearson's correlation and simple linear regression models. Results: viable congenital anomalies corresponded to 66.6%, and non-viable, to 33.3%. The average of all areas of IES-R, as well as the sum of matters concerning IES-R, were high in all pregnant women diagnosed with congenital anomaly. Using a cut of 5.6 units in the IES-Rtotal score, we found that 46.8% of pregnant women diagnosed with a congenital anomaly showed PTSD symptoms; however, symptoms were more frequent among pregnant women diagnosed with non-viable congenital anomaly (64.9%). The IES-R intrusion and hyperstimulation dimensions were more correlated. We observed a decreasing connection with PTSD symptoms in relation to the time of the notification of congenital anomaly diagnosis. Conclusions: PTSD symptoms were more frequent in pregnant women diagnosed with non-viable congenital anomaly.

Resumo Objetivos: avaliar os sintomas do Transtorno de Estresse Pós-Traumático (TEPT) em gestantes com diagnóstico fetal de anomalia congênita. Métodos: estudo quantitativo e transversal-correlacional. A amostra foi composta por 111 gestantes com diagnóstico de anomalia, entre 2013 a 2014. Foi utilizado um questionário semiestruturado e a Escala do Impacto do Evento - Revisada (IES-R). Para a análise estatística o teste Qui quadrado, t de Student ou Mann-Whitney, coefficientes alfa de Cronbach, correlação de Pearson e modelos de regressão linear simples. Resultados: as anomalias congênitas viáveis corresponderam a 66,6% e as inviáveis, a 33,3%. A média de todos os domínios da IES-R como a soma das questões dos domínios da IES-R foram altas nas gestantes com diagnóstico de anomalia congênita. Ao se utilizar um corte de 5,6 unidades no escore total da IES-R, 46,8% de todas as gestantes com diagnóstico de anomalia congênita apresentaram sintomas de TEPT, sendo mais frequente entre as gestantes com diagnóstico de anomalia congênita inviável (64,9%). As questões de intrusão e hiperestimulação da escala IES-R estiveram mais correlacionadas entre si. Pareceu existir uma relação decrescente dos sintomas de TEPT, em relação ao tempo da notícia do diagnóstico de anomalia congênita. Conclusão: os sintomas do TEPT estiveram mais presentes em gestantes com diagnóstico de anomalia congênita inviável.

Trisomía 9, trisomía 13 y trisomía 18: resultados del análisis citogenético prenatal, Hospital Clínico Universidad de Chile, años 2000-2017 / Trisomy 9, trisomy 13 and trisomy 18: results of the prenatal cytogenical analysis, Hospital Clínico Universidad de Chile, years 2000-2017

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.

INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.

Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas: resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río / Prenatal Diagnosis of Congenital Malformations and Chromosomal Abnormalities: Single Center Experience - Hospital Dr. Sótero Del Río, Chile

INTRODUCCIÓN: El diagnóstico prenatal de anomalías congénitas tiene como objetivo ofrecer consejería apropiada, identificar aquellas patologías que se benefician de terapia fetal y coordinar la derivación de estas pacientes a centros terciarios para un óptimo manejo perinatal. Para el diagnóstico y manejo de las anomalías congénitas en el Hospital Dr. Sótero Del Río contamos con un equipo multidisciplinario. El objetivo de este estudio es describir nuestra experiencia como centro de referencia en Santiago de Chile en relación al diagnostico prenatal de malformaciones congénitas, estudio genético prenatal y resultados perinatales. MÉTODOS: Estudio retrospectivo y descriptivo. Se incluyó a las pacientes registradas en las bases de datos ecográficas entre 2010 y 2019 del Hospital Dr. Sotero del Rio. Se revisaron fichas clínicas para evaluación y seguimiento postnatal. RESULTADOS: Se evaluaron 404 pacientes con sospecha de malformaciones congénitas o marcadores de aneuploidías. La edad gestacional media de la evaluación fue 29 semanas (14-38 semanas). La mediana de la edad gestacional al parto fue 37.6 semanas (20-41 semanas). Se obtuvo un 78% de recién nacidos vivos, 12% óbitos fetales y 10% mortineonatos. Las malformaciones más frecuentes fueron cardiovasculares, sistema nervioso central, hidrops, extremidades, abdomen y genitourinario. Se realizo el estudio genético en 232 pacientes; 61% resultado normal, 12.5% trisomía 21, 8% trisomía 18, 4% trisomía 13, 4% XO, 4% otras. Se analizaron las pacientes que se acogieron a la ley de interrupción voluntaria del embarazo. CONCLUSIÓN: Destacamos la importancia de derivación a centros de referencia de pacientes con sospecha de malformaciones congénitas para un adecuado diagnostico prenatal, ofrecer un manejo con equipo multidisciplinario y así mejorar los resultados neonatales.

INTRODUCTION: The objectives of prenatal diagnosis of fetal malformations are to offer the patient and her family the proper counseling, identify those conditions that benefits of prenatal therapy and to coordinate the referral to tertiary centers to improve neonatal survival. Our hospital counts with a multidisciplinary team who evaluate the patients together. The objective of this study is to describe our experience as a referral center in prenatal diagnosis, management and neonatal outcomes in Santiago de Chile. METHODS: Retrospective and descriptive study. Patients registered in our prenatal diagnosis database between September 2010 and July 2019 were included. Clinical files were reviewed for neonatal outcomes. OUTCOMES: 404 patients with congenital malformations or aneuploidy markers were evaluated. The average gestational age of the evaluation was 29 weeks. Median gestational age to delivery was 37 weeks plus 6 days. 78% of livebirth, 12% fetal demise and 10% of neonatal death were obtained. The most frequent fetal malformations were cardiovascular, central nervous system, fetal hydrops, extremities, abdominal wall defects and urinary system. Fetal karyotype was performed in 232 patients; 61% normal karyotype, 12.5% trisomy 21, 8% trisomy 18, 4% trisomy 13, 4% monosomy X, 4% others. We also analyze the patients who agreed to termination of pregnancy according to Chilean legislation. CONCLUSION: We highlight the importance of referral of patients with suspected fetal malformations to tertiary centers for an adequate evaluation by a multidisciplinary team of specialists, to improve the survival and neonatal outcome.

Gastrosquisis: análisis de situación entre los años 2011 y 2016 en el Hospital Pediátrico Pereira Rosell / Gastroschisis: study of the situation in the period between 2011-2016 at the Pereira Rossell Pediatric Hospital / Gastrosquise: análise da situação entre 2011 e 2016 no Hospital Pediátrico Pereira Rosell

La gastrosquisis es el defecto congénito más frecuente de la pared abdominal anterior. Se clasifican en simple o complicadas según si presentan o no anomalías a nivel intestinal. El diagnóstico prenatal se realiza en un 75%-95% de los pacientes. El tratamiento es quirúrgico, lográndose un cierre primario en el 80% de los casos. La mortalidad global reportada a nivel internacional es de un 10%. Se realizó un estudio observacional descriptivo retrospectivo transversal en el que se analizaron los pacientes con gastrosquisis operados en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell entre el primero de enero de 2011 y el 30 de mayo de 2016. Se estudiaron las siguientes variables: incidencia de la patología, edad materna, edad gestacional al diagnóstico y al nacimiento, vía de nacimiento, anomalías asociadas, técnica quirúrgica, incidencia de complicaciones y mortalidad. En el período estudiado se intervinieron 62 pacientes con diagnóstico de gastrosquisis, de los cuales 48 fetos (77,4%) tenían diagnóstico prenatal. El 53,2% nacieron por parto vaginal y 53 % nacieron pretérmino. En el 85,5% se logró realizar un cierre primario. El 69,4% de los neonatos presentaron complicaciones, siendo las infecciosas las más frecuentes. La mortalidad fue de 12,9%, siendo la sepsis la causa más frecuente. Si bien hemos mejorado en el índice de diagnóstico prenatal y en la vía de nacimiento, y las cifras de tratamiento y mortalidad se encuentran dentro de las cifras publicadas a nivel internacional, existe un elevado número de complicaciones infecciosas, que condicionan la evolución y pronóstico de estos pacientes.

Gastroschisis is the most frequent congenital defect of the anterior abdominal wall. They are classified as simple or complicated according to whether or not they present abnormalities at the intestinal level. Prenatal diagnosis is made in 75%-95% of the patients. The treatment is surgical, achieving a primary closure in 80% of cases. The global mortality reported at an international level is 10%. A cross-sectional retrospective observational study was performed in which gastroschisis patients operated at the Pediatric Hospital of the Pereira Rossell Hospital Center between January 1, 2011 and May 30, 2016 were analyzed. The following variables were studied: the pathology, maternal age, gestational age at diagnosis and at birth, birth route, associated anomalies, surgical technique, incidence of complications and mortality. In the period under study, 62 patients diagnosed with gastroschisis were operated on, of which 48 fetuses (77.4%) had a prenatal diagnosis. 53.2% were born by vaginal delivery and 53% were born preterm. In 85.5% a primary closure was achieved. 69.4% of the neonates presented complications, infectious being the most frequent. Mortality was 12.9%, with sepsis being the most frequent cause. Although we have improved in the prenatal diagnosis index and in the route of birth, and the figures of treatment and mortality are among the figures published internationally, there is a high number of infectious complications, which condition the evolution and prognosis of these patients.

A gastrosquise é o defeito congênito mais freqüente da parede abdominal anterior. São classificadas como simples ou complicadas de acordo com a presença ou não de anormalidades no nível intestinal. O diagnóstico pré-natal é feito em 75% a 95% dos pacientes. O tratamento é cirúrgico, atingindo o fechamento primário em 80% dos casos. A mortalidade global reportada a nível internacional é de 10%. Um estudo observacional transversal foi realizado em gastrosquise retrospectiva que os pacientes operados no Hospital Pediátrico Pereira Rossell Hospital do Centro entre 1 de Janeiro de 2011 e 30 maio de 2016 foram analisados. As variáveis estudadas foram: a patologia, idade materna, idade gestacional no diagnóstico e no nascimento, rota nascimento, anomalias associadas, técnica cirúrgica, a incidência de complicações e mortalidade. No período em estudo, 62 pacientes diagnosticados com gastrosquise foram operados, dos quais 48 fetos (77,4%) tiveram o diagnóstico pré-natal. 53,2% nasceram por parto vaginal e 53% nasceram prematuros. Em 85,5%, um fechamento primário foi alcançado. 69,4% dos neonatos com o ser infeccioso mais freqüente. A mortalidade foi de 12,9%, sendo a sepse a causa mais freqüente. Temos melhorado, embora diagnóstico pré-natal no índice e na rota de nascimento, e os números de tratamento e mortalidade estão entre os números publicados Internacionalmente, há um elevado número de complicações infecciosas, que condicionam a evolução eo prognóstico desses pacientes.

Congenital pulmonary airway malformation

Congenital pulmonary airway malformation (CPAM) is a developmental malformation of the lower respiratory tract. We report the case of a male newborn diagnosed with cystic lung disease during prenatal ultrasound. A cesarean section was performed at the 32nd gestational week because of premature rupture of the membranes, and soon after the delivery the newborn developed respiratory failure and died. The aim of this study is to report an autopsy case because of its rarity, and to briefly discuss the CPAM subtypes and differential diagnosis of cystic lung diseases of childhood.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil / Coorte retrospectiva de trissomia do cromossomo 18 (síndrome de Edwards) no sul do Brasil

CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

CONTEXTO E OBJETIVO:A trissomia do cromossomo 18 (T18), ou síndrome de Edwards, é uma doença cromossômica caracterizada por um quadro clínico amplo e prognóstico pobre. Nosso objetivo foi descrever os dados clínicos, radiológicos e de sobrevida de uma coorte de pacientes com diagnóstico pré-natal de T18.TIPO DE ESTUDO E LOCAL:Coorte única retrospectiva no Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas (HMIPV).MÉTODOS:Foram considerados todos os pacientes consecutivos com T18 registrados no Serviço de Medicina Fetal do HMIPV entre janeiro de 2005 e setembro de 2013. Foram coletados os seus dados clínicos, radiológicos e de sobrevida. Foi utilizado o teste de Kaplan-Meier para análise de sobrevida.RESULTADOS:10 pacientes foram diagnosticados com T18, 7 (70%) do sexo feminino. A maioria (90%) foi encaminhada devido a malformações detectadas no ultrassom. A média da idade gestacional na primeira avaliação foi de 25,5 semanas. Ao cariótipo, os defeitos foram considerados múltiplos em apenas 4 pacientes (40%). Todos apresentaram trissomia livre do cromossomo 18. A principal anormalidade observada foi a cardiopatia congênita (n = 7). Morte intraútero ocorreu em metade dos pacientes (50%). Todos os pacientes vivos (n = 5) nasceram através de parto cesáreo, apresentando baixo peso e baixos escores de Apgar. A mediana de sobrevida após o nascimento foi de 18 dias.CONCLUSÕES:A T18 associa-se a risco elevado de morte fetal e neonatal. A maioria dos pacientes apresenta malformações identificadas através do ultrassom, como cardiopatias congênitas, que poderiam auxiliar na sua identificação pré-natal.

Chlamydia trachomatis infection in a sample of northern Brazilian pregnant women: prevalence and prenatal importance

There are limited data regarding prevalence of Chlamydia trachomatis infection among northern Brazilian pregnant women. OBJECTIVE: The purpose of this study was to estimate the prevalence of chlamydial infection among pregnant women in their third trimester and to determine the repercussion of this infection on their offspring. METHODS: In the first phase of this study 100 pregnant women receiving prenatal care in a local public university hospital were examined to assess the prevalence of genital C. trachomatis infection by polymerase chain reaction technique. In the second phase, 88 pregnant women were prospectively evaluated for premature rupture of membranes, puerperal consequences associated with chlamydial infection, and neonates were checked for low-birth weight. RESULTS: The prevalence rate of chlamydial infection was 11%, and 72.7% of the positive participants were predominantly less than 30 years of age (p = 0.1319). A total of 36.4% of the participants had premature rupture of membranes (p = 0.9998). Neither low-birth weight infants nor preterm delivery were observed. A cohort of 16 newborn babies were followedup up to 60 days of life to ascertain outcome: 50% had respiratory symptoms. Neonates born to infected mothers had a higher risk to develop respiratory symptoms in the first 60 days of life. CONCLUSION: The scarcity of data about the effects of chlamydial infection on pregnancy and neonatal outcomes justified this study. Diagnosing and treating chlamydial infection during the third trimester of pregnancy may prevent neonate infection. Therefore, preventive screening should be seen as a priority for early detection of asymptomatic C. trachomatis infection as part of local public health strategies.

Plasmodium falciparum infection in pregnant women attending antenatal care in Luanda, Angola / Infecção por Plasmodium falciparum em mulheres grávidas em consultas pré-natal em Luanda, Angola

INTRODUCTION: Malaria during pregnancy remains a serious public health problem. The aim of this study was to establish the prevalence and possible risk factors for malaria in pregnant women attending antenatal care at Augusto Ngangula Specialized General Hospital in Luanda, Angola. METHODS: Pregnant women (679 total) who attended antenatal care from April to September 2008 were included in the study after signing informed consent. For each participant, the social-demographic profile and malaria and obstetric histories were investigated via a questionnaire. Diagnosis was made by optic microscopy, and hemoglobin concentration measured. The associations between age, parity, gestational age, residence, schooling, malaria during gravity, anemia and treatment with incidence of Plasmodium falciparum infection were analyzed through logistic regression. RESULTS: During the period of study, 74 (10.9%) out of 679 women were infected by P. falciparum. The average concentration of hemoglobin was 11.1 ± 0.07g/dL, and there were significant associations between the history of malaria during pregnancy, P. falciparum infection (p<0.01) and anemia at the time of observation (p<0.001). CONCLUSIONS: Previous history of malaria during pregnancy represents a risk factor for current infection and anemia was an important complication associated with malaria, even in women who were treated with sulfadoxine-pyrimethamine during pregnancy.

INTRODUÇÃO: A malária na gravidez continua a ser um grave problema de saúde pública. O objetivo deste estudo foi determinar a prevalência e possíveis fatores de risco para a malária, em mulheres grávidas que foram atendidas em consultas pré-natal, no Hospital Geral Especializado Augusto Ngangula, em Luanda, Angola. MÉTODOS: De abril a setembro de 2008, 679 mulheres grávidas foram envolvidas no estudo após consentimento informado. O perfil sócio demográfico e história de malária e obstetrícia foram investigados através de um questionário. O diagnóstico foi efetuado por microscopia óptica e determinou-se ainda as concentrações da hemoglobina. Através da regressão logística foi analisada a associação entre a idade, paridade, tempo de gestação, residência, escolaridade, malária durante a gravidez, anemia e tratamento com a infecção por Plasmodium falciparum. RESULTADOS: Setenta e quatro (10,9%) das 679 mulheres estavam infectadas com P. falciparum. O valor médio da concentração da hemoglobina foi de 11,1 ± 0,07g/dL, encontrando-se uma associação significativa entre história de malária na gravidez e infecção por P. falciparum (p<0,01) e anemia no momento da observação (p<0.001). CONCLUSÕES: A história de malária anterior na gravidez foi um fator de risco para uma infecção atual e a anemia uma complicação importante associada à malária, mesmo em mulheres que receberam tratamento durante a gravidez com sulfadoxina-pirimetamina.

Estudo multicêntrico da época do diagnóstico de fendas orais / Time of diagnosis of oral clefts: a multicenter study

OBJETIVO: Determinar a época do diagnóstico de fendas orofaciais típicas em diferentes regiões brasileiras e sua influência na idade da correção cirúrgica. MÉTODO: Estudo prospectivo, descritivo e transversal realizado em centros médicos do Sudeste, Sul e Nordeste do Brasil. Fonoaudiólogos e geneticistas treinados realizaram entrevista, previamente validada, com pais de crianças afetadas. Utilizaram-se os programas Epi-Info e SPSS. Adotou-se nível de significância de 5 por cento (p < 0,05). RESULTADOS: A amostra contou com 215 entrevistas para análise: 21,9 por cento (47) aplicadas no Sudeste, 51,1 por cento (110) no Sul e 27 por cento (58) no Nordeste. A renda mensal no Sudeste foi maior (p < 0,05). A fenda labiopalatal foi encontrada em 61,4 por cento (132) dos casos, a palatal, em 20,9 por cento (45), e a labial, em 17,7 por cento (38). Em 75,3 por cento (162) dos casos, o diagnóstico ocorreu na maternidade, em 14 por cento (30), no pré-natal e, em 10,2 por cento (22), após a alta da maternidade. O Sudeste apresentou maior frequência de diagnóstico pré-natal (27,7 por cento), possivelmente relacionada ao maior poder aquisitivo e a oportunidades de investigação. Dos diagnósticos em maternidades, 74,4 por cento ocorreram no Nordeste. Entretanto, não houve diferença na comparação entre época de diagnóstico, região e idade da primeira cirurgia. CONCLUSÃO: Considerando que o diagnóstico é mais frequente em maternidades, sugere-se o treinamento das equipes de saúde desses locais, visando efetiva coordenação do atendimento inicial. Apesar da época do diagnóstico não influenciar a idade das cirurgias, ela favorece o planejamento dos cuidados neonatais e terapêuticos dos afetados.

OBJECTIVE: To determine the time of diagnosis of typical orofacial clefts in different Brazilian regions and its influence on age at surgical correction. METHOD: This was a prospective, descriptive, cross-sectional study conducted in medical centers in the Southeast, South, and Northeast of Brazil. Trained speech therapists and geneticists interviewed the parents of affected children using a previously validated questionnaire. Epi-Info and SPSS were used for data analysis. Significance level was set at 5 percent (p < 0.05). RESULTS: The sample consisted of 215 interviews conducted in the following regions: 21.9 percent (47) in the Southeast, 51.1 percent (110) in the South, and 27 percent (58) in the Northeast. Monthly family income was higher in the Southeast (p < 0.05). Cleft lip and palate were found in 61.4 percent (132) of cases, cleft palate in 20.9 percent (45), and cleft lip in 17.7 percent (38). Diagnosis occurred in the maternity ward in 75.3 percent (162) of cases, during the prenatal period in 14 percent (30), and after hospital discharge in 10.2 percent (22). The Southeast had a higher frequency of prenatal diagnosis (27.7 percent), possibly related to greater purchasing power in this region and greater availability of prenatal investigation. Of all cases diagnosed in the maternity ward, 74.4 percent occurred in the Northeast. However, no significant difference was found when comparing time of diagnosis, region, and age at first surgery. CONCLUSION: Considering that diagnosis is more common in the maternity ward, local health care teams should be trained in order to effectively improve the initial care of these patients. Although time of diagnosis did not affect age at surgery, it favors the planning of neonatal care and treatment of affected infants.

Epidemiologia da sífilis gestacional em Fortaleza, Ceará, Brasil: um agravo sem controle / Epidemiology of gestational syphilis in Fortaleza, Ceará State, Brazil: an uncontrolled disease

O objetivo deste estudo transversal foi conhecer o perfil epidemiológico das gestantes com VDRL reagente, em Fortaleza, Ceará, Brasil, no ano de 2008. Foi verificado o percentual das gestantes com sífilis que foram consideradas inadequadamente tratadas e os motivos da inadequação, de acordo com as normas do Ministério da Saúde. Foram entrevistadas 58 gestantes no pós-parto imediato, internadas em cinco maternidades públicas do município, e consultadas as informações do prontuário e do cartão das gestantes. Foram avaliados dados sociodemográficos, obstétricos e variáveis relacionadas ao diagnóstico e tratamento da gestante e do parceiro. Apenas três (5,2 por cento; IC95 por cento: 1,8 por cento-14,1 por cento) gestantes foram consideradas adequadamente tratadas. O principal motivo da inadequação do tratamento foi a falta ou inadequação do tratamento do parceiro (88 por cento dos casos; IC95 por cento: 76,2 por cento-94,4 por cento). Foi possível constatar a necessidade de um segundo VDRL no terceiro trimestre de gestação. Os dados evidenciaram que o atendimento recebido pela gestante não foi suficiente para garantir o controle da sífilis congênita.

This cross-sectional study investigated the epidemiological profile of pregnant women with positive VDRL in Fortaleza, Ceará State, Brazil, in 2008. The study verified the proportion of pregnant women with syphilis that was classified as treated incorrectly according to Brazilian Ministry of Health guidelines, and assessed the reasons for inadequate treatment. Fifty-eight women who had given birth at five public maternity hospitals were interviewed consecutively following delivery. Data were also recovered from medical files and pregnancy cards. Sociodemographic and obstetric data and information related to the diagnosis and treatment of syphilis in both pregnant women and their partners were analyzed. Only three (5.2 percent; 95 percentCI: 1.8 percent-14.1 percent) pregnant women had received adequate treatment. The main reason for inadequate treatment was lack of partner treatment (88 percent of cases; 95 percentCI: 76.2 percent-94.4 percent). Medical care as currently provided does not guarantee the control of gestational syphilis in this sample.

Seroprevalence of HIV among blood donors, antenatal women and other patients in a tertiary hospital in Nigeria

HIV/AIDS continues to remain a nightmare in the developing nations of the world especially in Nigeria, where about 2.9 million people are living with this problem. This study aimed at determining the sero-prevalence of HIV among both patients and blood donors at the Olabisi Onabanjo University Teaching Hospital, Sagamu, Nigeria. Samples were collected between January 1st, 2005 and December, 31st 2006 and were screened using two rapid test kits, with two different principles (enzymatic and agglutination). Samples positive to the two methods were taken as truly sero-positive. The seropositive rate among blood donors, antenatal women, in- and out patients were, 3.2 percent, 6.9 percent and 17.5 percent respectively. There were five cases of positivity to both HIV I and II. Antenatal women between the ages of 26-35 were found responsible for 5.3 percent of the total positivity among antenatal women. Though, there is high prevalence rate among in- and out-patients, many of these were screened based on manifestation of clinical symptoms. However, more is to be done in the area of prevention of this disease, since no cure is yet found.

Infecção pelo HTLV 1/2: atuação no pré-natal como estratégia de controle da doença no Estado de Mato Grosso do Sul / HTLV 1/2 infection: prenatal performance as a disease control strategy in State of Mato Grosso do Sul

Neste estudo, foi estimada a prevalência da infecção pelo HTLV 1/2 em gestantes no Estado de Mato Grosso do Sul, por meio das técnicas ELISA, Western Blot e PCR, em amostras de sangue obtidas por punção venosa periférica. Foram examinadas 116.689 gestantes, sendo diagnosticadas 153 infectadas pelo HTLV 1/2, com prevalência de 0,13 por cento. Deste total, 133 (86,9 por cento) eram do tipo 1 e 20 (11,1 por cento) do tipo 2. Das 153 gestantes, 73,2 por cento eram negras, pardas ou índias, cerca de 90 por cento tinham atividades domésticas e 75,8 por cento (116/153) tinham 7 anos ou menos de escolaridade. As 153 gestantes tiveram 172 gestações, durante o período do estudo, sendo que 164 tiveram acompanhamento. Das gestações acompanhadas, 6,7 por cento (11/164) evoluíram para aborto, 26,8 por cento (41/153) gestantes relataram abortos anteriores, sendo que 31,7 por cento (13/41) apresentaram mais de dois abortos. Co-morbidades foram detectadas em 17 por cento (26/153) sendo 3,3 por cento (5/153) com HIV (p<0,000002). Os autores enfatizam a importância da identificação das gestantes infectadas pelo HTLV1/2 na estratégia de controle e prevenção da doença.

In this study, the prevalence of HTLV 1/2 infection among pregnant women in the State of Mato Grosso do Sul was estimated by means of the ELISA, Western Blot and PCR techniques, in blood samples collected by peripheral venous puncture. 116,689 pregnant women were examined and 153 were diagnosed as presenting HTLV 1/2 infection, with prevalence of 0.13 percent. Among these 153 pregnant women, 133 (86.9 percent) had type 1 and 20 (11.1 percent) had type 2; 73.2 percent were black, brown or indigenous; about 90 percent performed domestic activities; and 75.8 percent (116/153) had been to school for seven years or less. The 153 pregnant women had 172 pregnancies during the study period and 164 pregnancies were followed. Out of pregnancies that were followed, 6.7 percent (11/164) evolved to abortion, 26.8 percent (41/153) reported previous abortions and 31.7 percent (13/41) had had more than two abortions. Comorbidities were found in 17 percent (26/153), among whom 3.3 percent (5/153) had HIV (p<0.000002). The authors emphasize the importance of identifying pregnant women with HTLV 1/2 infection, as a strategy for disease control and prevention.

Prevalencia de procedimientos invasivos en una población chilena usuaria de métodos de cribado y diagnóstico prenatal / Prevalence of invasive procedures in a chilean population users of screening and prenatal diagnosis methods

Objetivo: Evaluar la prevalencia del uso de procedimientos invasivos prenatales en una población chilena con cribado y diagnóstico de alteraciones morfológicas y/o cromosómicas. Método: Estudio descriptivo en 17.906 embarazadas entre junio de 2000 y octubre de 2006, a las cuales se les realizó cribado ecográfico de aneuploidia y malformaciones congénitas durante el primer y segundo trimestre. Las pacientes fueron informadas y aconsejadas acerca de las implicancias de dichos procedimientos. Los procedimientos efectuados fueron la biopsia de vellosidades coriales (BVC), amniocentesis (AMCT) y cordocentesis. Se calculó la prevalencia y las indicaciones de dichos procedimientos. Resultados:Se realizaron 81 procedimientos invasivos (0,45 por ciento). Las BVC representaron un 43,3 por ciento, las AMCT el 37,0 por ciento y las cordocentesis un 19,7 por ciento. Las principales motivaciones para realizarse un estudio invasivo fueron malformaciones congénitas (48,1 por ciento) y aumento del riesgo de aneuploidia (40,7 por ciento). Los cariotipos alterados fueron 43,2 por ciento del total de los procedimientos, encontrándose 29 por ciento de trisomías 21, 46 por ciento de trisomías 18 y 13 y 20 por ciento de síndrome de Turner. Conclusión: La prevalencia de procedimientos invasivos fue 10 veces inferior a la descrita en países donde el aborto es legal, y aproximadamente la mitad de ellos resultaron alterados. En nuestra población utilizando una asesoría adecuada, la principal motivación para realizarse un procedimiento invasivo fue el mejor manejo obstétrico del embarazo y, secundariamente, la posibilidad de contar con una mejor información sobre la salud del hijo no nacido.

Objective: The purpose of this study was to evaluate the prevalence and indications of invasive procedures in a population without termination of pregnancy. Method: This descriptive study was performed in pregnant women who had either assessment of risk for chromosomal abnormalities during the first and second trimester of pregnancy or detection of soft markers or structural defects at any gestational age from June 2000 to October 2006. The patients were counseled with regards their estimated risk, and were informed about invasive diagnostic tests. The invasive testing offered were chorion villous sampling (CVS), amniocentesis (AMCT) and fetal blood sampling (FBS). The prevalence of invasive testing was calculated and its causes analyzed according to the type of screening test. Results: Ultrasound was carried out in 17,906 pregnant women, being 70 percent performed either during the first or second trimester of pregnancy. Eighty one invasive procedures were performed (0.45 percent). CVS accounted for 43.3 percent, AMCT for 37.0 percent and FBS for 19.7 percent. The main motivation for opting for invasive testing was fetal abnormalities (48.1 percent) and increased risk of chromosomal anormalities (40.7 percent). Abnormal fetal kaiyotypes were 43.2 percent, being 29 percent Down's syndrome, 46 percent Edwards and Pateau's syndromes, and 20 percent Turner syndrome. Conclusion:Jhe low frequency of invasive procedures observed in this population might be an expression of our social, cultural and legal characteristics, but it is also a demonstration of pragmatic and ethically rational decisions about invasive testing for chromosomal abnormalities.

Ductus venoso fetal: su utilidad en el diagnóstico prenatal durante el primer trimestre / Fetal ductus venosus: its utility in the prenatal diagnosis during the first trimester

Se revisa el rol del ductus venoso en el diagnóstico prenatal durante el primer trimestre de la gestación.

Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.

The experiences in genetic counseling and prenatal diagnosis at a tertiary genetic center in India are described. Of 3500 subjects provided genetic counseling 28.7% were for prenatal diagnosis, 13.7% for mental retardation +/- malformations, 11.5% for thalassemia, hemophilia and leukemia, 8.5% for neural tube defects and other malformations, and 8% for muscle dystrophy and spinal muscle atrophy. Chromosomal studies in blood (n = 5459) were for recurrent abortions (57.8%), delayed milestones (14.7%), malformations (11%), and infertility and amenorrhea (10.2%). Indications for amniotic fluid studies (n = 835) were advanced maternal age (35.7%), high risk result on triple test (21.3%), previous child with trisomy 21 (21.3%) and abnormalities seen on ultrasound (11.1%). Molecular studies were mostly for thalassemia (843, 24.3%), Duchenne muscular dystrophy (443, 12.5%), fragile X syndrome (367, 10.3%), spinal muscular atrophy (315, 8.9%), thrombophilia profile (233, 6.6%), triplet repeat disorders-spinocerebellar ataxias, Huntington disease and Friedreich ataxia-162 (4.6%), cystic fibrosis 140 (3.9%) and mitochondrial disorders 101 (2.9%). Other disorders for which molecular diagnosis was done were intrauterine infections by PCR on the amniotic fluid, Prader Willi/Angelman syndromes, hemophilia, achondroplasia, congenital adrenal hyperplasia, and Apert syndrome etc. In biochemical studies triple marker tests were the most common (3239), followed by aminoacid chromatography (774). Among neurolipidosis metachromatic leukodystrophy was the commonest, followed by Krabbe's disease, Tay Sach disease and Gaucher disease. Of the mucopolysacharidoses Hurler syndrome was the commonest, followed by Hunter syndrome. These data are compared with previous studies and a change towards increased prenatal diagnostic tests is observed. The commonest indication for amniocentesis has changed to advanced maternal age. CONCLUSION: Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.

Predição da restrição do crescimento fetal pela medida da altura uterina / Predction of fetal growth restriction by uterine height

O objetivo deste estudo foi verificar o poder de predição da medida da altura uterina para a restrição do crescimento fetal (RCF), por meio da curva de MARTINELLI et al. (2001), tendo como limite o percentil 5 e 10 para a idade gestacional e comparar com a curva de BELIZAN et al. (1978). Entre julho de 2000 e fevereiro de 2003, 238 gestantes de alto risco foram submetidas a medida de altura uterina, da 20a. à 42a. semana de gestação. Todas possuiam idade gestacional confirmada por ultra-sonografia precoce / The aim of this study was to correlate uterine height measurements below the 5th. and 10th. percentiles using MARTINELLI et al. (2001) curve to fetal growth restriction (FGR) and to february 2003, 238 pregnant women of high risk were submitted to uterine height measurements between the 20th. snd 42nd. weeks of gestation. The whole group had well-known gestational age, confirmed by early ultrasoud...

Aportes al diagnóstico de situación perinatal de la provincia de Tucumán: Estudio del Servicio de Neonatología. Instituto de Maternidad y Ginecología Nuestra Señora de las Mercedes. Año 2000 / Contributions to diagnosis of perinatal situation of the Tucuman province. Study of the neonatology service Institute of Maternity and Gynecology Nuestra Señora de las Mercedes. Year 2000

Objetivos: Analizar la producción del Servicio de Neonatología del Instituto de Maternidad N. S. de las Mercedes, donde nacen la mayoría de los niños de Tucumán (12.000 por año) a fin de contribuir al diagnóstico perinatal provincial. Metodología: Estudio descriptivo de corte transversal de los 3.847 recién nacidos durante el año 2000. Se analizó la procedencia, peso al nacer, características del alta, días de estada y tasa de mortalidad. Las fuentes de información fueron el Libro de Admisión y las historias clínicas. Resultados: En el 2000 ingresaron 3.781 niños, de los cuales 90 por ciento procedió de la institución y 10 por ciento de otros servicios públicos y privados. El 33 por ciento pesó menos de 2.500 g al nacer. El 56 por ciento fueron dados de alta al domicilio, 47 niños se derivaron al Equipo de Adopción y 26 por ciento se trasladó al sector de internación conjunta. Se produjeron 322 (8,5 por ciento) defunciones, de los cuales 154 (47 por ciento) ocurrieron dentro de las primeras 24 hs. de vida. El 25 por ciento de las defunciones pesaron más de 2.000 gramos al nacer. Conclusiones: El análisis de esta información permitió acercarse al conocimiento de aspectos del funcionamiento del Servicio de Neonatología del Instituto de Maternidad sirviendo de base científica para proponer estrategias de mejoramiento en la calidad de la atención. Se destacó la importancia de evaluar los criterios de internación de niños de más de 2.000 g al nacer y el elevado número de defunciones que podrían haberse evitado. Se propuso la habilitación de otro servicio de neonatología en el sector público, mejorar la referencia y contrarresferencia y desencadenó un proceso de revisión de las normas de atención.

Hernia diafragmática congénita en recién nacidos / Congenital diaphragmatic hernia in newborns

Con el objeto de conocer algunas características clínicas de los recién nacidos portadores de hernia diafragmática congénita (HDC), determinar letalidad según momento de intervención quirúrgica (IQ) y predecir la sobrevida de estos pacientes según la relación entre PaCO2 y el índice ventilatorio modificado al momento de la IQ, se estudiaron retrospectivamente 38 RN hospitalizados en la Unidad de Neonatología del Hospital Guillermo Grant Benavente. En 30 RN se logró realizar IQ, de ellos 13 se operaron antes de las 24 horas de vida falleciendo el 61,5 por ciento. Los 17 restantes se operaron después de la estabilización respiratoria y hemodinámica, falleciendo el 41,2 por ciento. 17 RN se ubicaron al momento de la IQ en el casillero B de Bohn obteniéndose una sobrevida de 70,5 por ciento, 4 en el casillero A sobreviviendo el 50 por ciento y 6 en el C falleciendo el 100 por ciento. La letalidad global de nuestra serie fue 60,5 por ciento. Los resultados sugieren que la sobrevida es mayor en los RN operados previa establización respiratoria y hemodinámica, aunque no alcanza una significación estadística concluyente

El test de Apgar una visión de la acción obstétrica: experiencia de 7 años / Apgar score a view point of the obstetric action: experience of 7 years

Se revisaron 382 fichas clínicas con Apgar bajo 7 ptos., a los 5 minutos de vida, de nuestra maternidad desde 1993 hasta 1999. Se investigó: incidencia, patologías asociadas y relación con variables no tradicionales. La incidencia de Apgar bajo 7 fue menor al 1 por ciento, excepto en 1999 (1,21 por ciento). El grupo de pacientes predominantes fue de 17-35 años (88,48 por ciento), siendo un 50,26 por ciento multípara. El 56,54 por ciento de RN eran pretérminos con peso inferior a 2.500 gramos (58,38 por ciento). La vida de parto principal fue vaginal (47,65 por ciento). La RPM representó la principal patología asociada (12,3 por ciento). Los diagnóstico pre y postnatal predominante fueron el trabajo de parto (54,45 por ciento) y la prematuridad (46,34 por ciento) respectivamente. Se encontró una relación directa con edad gestacional peso del RN. Esta investigación resalta la importancia del control prenatal para el diagnóstico precoz de patologías matemofetales, tomando conductas adecuadas para obtener un RN sano