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Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The Toxoplasma gondii, an obligatory intracellular parasite, is the etiological agent of toxoplasmosis, which affects approximately one third of the world’s population. Objective: To analyze the frequency of Toxoplasma gondii infection in pregnant women in Foz do Iguaçu and possible factors associated with the infection. Method: A retrospective cross-sectional study (2017 data) was carried out, which evaluated serological tests, IgG and IgM antibodies for T. gondii during pregnancy and possible factors associated the infection, based on the prenatal records of pregnant women in health units, Foz do Iguaçu/PR. The χ2 test for trend was used for data analysis, and the odds ratio (OR) to estimate the chance of association between variables. Results: Of the 1,000 prenatal records analyzed, 781 (78.1%) had serology records for T. gondii, of which 265 (34.0%) were immune to T. gondii, 31 (3.9%) had IgG and IgM antibodies, and 516 (66.0%) were susceptible. Most pregnant women started prenatal care in the first trimester 467 (60.0%). There was a predominance of pregnant women with more than one pregnancy 200 (44.0% — p=0.00001), Brazilian 259 (35.1% — p=0.0112), aged >41 years old 7 (63.6%), complete high school 125 (37.8% — p<0.05), and of white skin color 140 (38.5% — p=0.0164). Conclusions: An average frequency of infection was identified among pregnant women. The associated factors evidenced should be considered during prenatal care, along with educational actions to prevent infection. [ABSTRACT FROM AUTHOR]

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Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient’s chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.

Background: Gestational diabetes mellitus is defined as any degree of glucose intolerance that is first diagnosed during pregnancy and may or may not persist after delivery. Its prevalence is still conflicting, but the risks offered to mother and fetus are diverse. Objective: To identify the positive responses of women about a diagnosis of diabetes received during pregnancy and to relate it to sociodemographic and prenatal characteristics, in addition to describing the orientations received regarding the diagnosis. Method: A cross-sectional study that uses data from the 2013 National Health Survey according to the self-reported gestational diabetes diagnosis. A bivariate analysis was performed, and prevalence and prevalence rates with a 95% confidence interval (95% CI) were calculated, considering a complex sampling plan. Results: The diagnosis of prenatal gestational diabetes mellitus was reported by 106 women, with a weighted prevalence of 6.6% (95% CI 5.0-8.5). There was an association between the diagnosis report in older pregnancy and non-white color. Most diagnosed women received guidance on the risks of the disease, but few were referred for specialist consultation. Conclusion: The detailed results of the PNS provide population estimates of the magnitude of the disease and make it possible to identify the set of factors associated with GDM. [ABSTRACT FROM AUTHOR]

Ultrasonography is one of the main methods of gestational diagnosis, in which it performs: biometry, monitoring of beats and organogenesis, detection of abnormalities and evaluation of maternal-fetal blood circulation. In this regard, intrauterine sonographic diagnosis of fetal abnormalities has been gaining space with the development of more advanced equipment, and has the potential to become a screening tool for this purpose. Based on the scarcity observed in this aspect, this study aims to report the intrauterine ultrasound diagnosis of a fetal abnormality in a pregnant feline. The patient was a 3-year-old Persian female with a history of natural mounting for 40 days. At ultrasonography, four live fetuses were visualized at approximately 38 days of age. A second ultrasonographic evaluation was performed after 12 days, and one fetus with cardiomegaly, heart rate oscillation and fetal distress was observed, while the other fetuses were within normal limits. The third scan was performed after four days, showing absence of heartbeat and presence of fluid in the pleural space in the fetus in question, confirming the death. Natural delivery occurred after one week, with the birth of three live pups and one stillborn. At necroscopic examination of the stillborn, generalized cardiomegaly was confirmed. We conclude that ultrasonography is a gold standard method for diagnosing fetal abnormalities, allowing birth planning and early intervention according to the situation. Thus, this study enriches the literature with more information related to fetal malformations observed before delivery, thus contributing to obstetric management in small animals. [ABSTRACT FROM AUTHOR]

This study aims to report the main forms of prenatal diagnosis of Pallister-Killian Syndrome for medical purposes and to better elucidate it as well as to provide adequate genetic counseling. It is an integrative review of a qualitative approach focused on the search for results for evidence-based practice that, after applying the inclusion criteria, the final sample consisted of six articles. After analyzing and discussing them, we conclude that the present topic still needs many studies and clinical practices so that there is a pattern of screening for the Syndrome in prenatal care, however, we know that the characteristic ultrasound and genetic findings already elucidate for a better diagnostic search strategy, as well as subsequent genetic family counseling. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective: To understand the experience of parents regarding prenatal diagnosis of orofacial cleft in their children. Methods: Descriptive study with a qualitative approach, carried out in a Brazilian public tertiary hospital between January and March 2019. Parents who were accompanying their children during hospitalization for primary surgeries and who had received the diagnosis of malformation during pregnancy were included in this study. Data was collected through semi-structured interviews, which were audio-recorded and transcribed in full. To prepare the results, Content Analysis was used in the Thematic modality. Results: The sample had 17 participants: 16 mothers and one father. From the speeches, three categories were unveiled: dealing with the unknown, assimilating the diagnosis, and positive and negative implications of prenatal diagnosis. Conclusions: We learned how complex and conflicting it was for parents to receive the diagnosis of malformation in their children, and that family and professional support was essential to the process of assimilation and coping. The findings point to the need for planning and implementing interventions, protocols and/or public policies aimed at assisting these parents in this period.

Objective: To analyse prenatal care in cases of congenital syphilis in the city of Almenara-MG, between 2015 and 2022. Methods: This is an exploratory descriptive literature review of a qualitativequantitative nature as an investigative method to obtain relevant information and coherent for the theoretical foundation of the problem and simultaneously the analysis of data that were obtained through SINAN. Results: 34 cases of syphilis in pregnant women and 56 cases of congenital syphilis were diagnosed and reported, and it is possible to observe that from the year 2015 the number of cases increased substantially. As for the characteristics of prenatal care, 53 pregnant women underwent prenatal care (94.6%) and 16 of them had the diagnosis during prenatal care, with only 1 (2.7%) being adequately treated. Conclusion: There is a deficiency in the prenatal care provided to women. Late detection combined with inadequate treatment suggests the definition of strategies with the participants of the health team, promoting the capture of pregnant women and their partners. [ABSTRACT FROM AUTHOR]

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed amalformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

Abstract Objective Most prenatal screening programs for toxoplasmosis use immunoassays in serum samples of pregnant women. Few studies assess the accuracy of screening tests in dried blood spots, which are of easy collection, storage, and transportation. The goals of the present study are to determine the performance and evaluate the agreement between an immunoassay of dried blood spots and a reference test in the serum of pregnant women from a population-based prenatal screening program for toxoplasmosis in Brazil. Methods A cross-sectional study was performed to compare the immunoassays Imunoscreen Toxoplasmose IgM and Imunoscreen Toxoplasmose IgG (Mbiolog Diagnósticos, Ltda., Contagem, Minas Gerais, Brazil)in dried blood spots with the enzymelinked fluorescent assay (ELFA, BioMérieux S.A., Lyon, France) reference standard in the serum of pregnant women from Minas Gerais Congenital Toxoplasmosis Control Program. Results The dried blood spot test was able to discriminate positive and negative results of pregnant women when comparedwith the reference test, with an accuracy of 98.2% for immunoglobulin G (IgG), and of 95.8% for immunoglobulin M (IgM). Conclusion Dried blood samples are easy to collect, store, and transport, and they have a good performance,making this a promisingmethod for prenatal toxoplasmosis screening programs in countries with continental dimensions, limited resources, and a high prevalence of toxoplasmosis, as is the case of Brazil.

Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be depicted on fetal neurosonography by persistence of a laminar pattern beyond 34 weeks and abnormal cortical sulcation. We report an index case of a male fetus diagnosed with abnormal lamination, characterized by the persistence of a laminar pattern during late pregnancy, following a normal second trimester scan. Post-natal whole exome sequencing revealed biallelic pathologic variants in the COQ2 gene which encodes an enzyme that is part of coenzyme Q10 (COQ10 or ubiquinone) pathway and is involved in the biosynthesis of CoQ, a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This case underscores the heterogeneity of the prenatal phenotypic presentation of pathogenic variants in the COQ2, namely lissencephaly.

Abstract With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.

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

Abstract Objective To evaluate the frequency of structural congenital anomalies (CAs) in the midwest of Brazil and its association with maternal risk factors. Methods This was a prospective, observational, case-control study based on a hospital population. Pregnant women attended at a fetal medicine service in Brazil were analyzed in the period from October 2014 to February 2016.A total of 357 pregnant women were included, 223 of whom had fetuses with structural anomalies (group case), and 134 of whom had structurally normal fetuses (control group). The clinical history was made previous to prenatal consultation, and the diagnosis of the structural CA was performed through ultrasound. Results A frequency of 64.27% (n = 223) of pregnant women with fetuses with structural anomalies was observed. The most frequent structural CAs were those of the central nervous system (30.94%), followed by anomalies of the genitourinary system (23.80%), and, finally, by multiple CAs (16.60%). The background of previous children with CAs (odds ratio [OR]: 3.85; p = 0.022), family history (OR: 6.03; p = < 0.001), and consanguinity between the progenitors (OR: 4.43; p = 0.034) influenced the occurrence of structural CA. Conclusion The most frequent CAs are those of the central nervous system, followed by those of the genitourinary system, and then multiple anomalies. The maternal risk factors that may have influenced the occurrence of structural CA were previous children with CA, family history, and consanguinity among the parents.

Abstract Objective To evaluate the outcomes of cases of prenatally-diagnosed congenital pulmonary airway malformation (CPAM). Methods We retrospectively evaluated cases of prenatally-diagnosed CPAM between 2004 and 2018. Ultrasonographic features such as visualization of a fetal lung mass and heterogeneous pulmonary parenchyma were used for CPAM diagnosis. Prenatal and postnatal findings were compared in terms of accuracy regarding the CPAM diagnosis. Results The sample consisted of 27 cases. There were four cases in which the patients opted for the termination of pregnancy due to the severity of the lesion. A total of 23 neonates were delivered, and CPAM was confirmed in 15 cases. Themedian gestational age at delivery was 37 weeks (28-40 weeks) and the mean birth weight was 2,776 g. There were two neonatal deaths, one due to pneumothorax, and the other due to hypoplastic left heart syndrome (HLHS). A total of five patients with respiratory problems were operated in the postpartum period. There were eight misdiagnosis: bronchopulmonary sequestration (five cases), congenital lobar emphysema (two cases), and congenital diaphragm hernia (one case). Conclusion A precise postnatal diagnosis is very important to organize the proper management of the pregnancies with fetuses with CPAM. The positive predictive value of the prenatal diagnosis of CPAM via ultrasonography is of 70.3%. The differential diagnosis of CPAM may be prolonged to the postpartum period in some cases.

ABSTRACT OBJECTIVE: To analyze the effect of rapid tests coverage in Primary Care on syphilis detection rate in pregnant women in Brazil, in municipalities with more than 100,000 inhabitants. METHODS: The dependent variable was the syphilis detection rate in pregnant women between 2012 and 2018. As the main independent variables, the methods for measuring the coverage of rapid tests for syphilis in Primary Care were used and, as adjustment variables, some indicators of health services and socioeconomic. We opted for a linear regression model for panel data (panel data analysis), considering the municipality as the unit of analysis and the year as the time variable. RESULTS: From the results of the final model, we can infer that, for a given municipality, as the rate of rapid tests increases by one point for every thousand live births, the detection rate of syphilis in pregnant women increases by an average of 0.02 cases per thousand live births (p < 0.001). This value is adjusted for Family Health coverage, proportion of health facilities per inhabitant, per capita expenditure on health and the Human Development Index. CONCLUSIONS: There was a substantial improvement in the amount of rapid tests available, as well as a significant increase in the number of tests performed in pregnant women, which predicts an increase in syphilis rates in pregnant women. However, a worrying hypothesis is that the number of tests performed on pregnant women during the analyzed period may have been insufficient to detect the progress of the epidemic in this population.

This article presents a study on the epidemiological profile of newborns admitted to a neonatal intensive care unit and subjected to invasive mechanical ventilation (IMV). The research was conducted at a public maternity hospital in João Pessoa, Paraíba, and involved the analysis of 40 medical records of 43 newborns. The results showed that the majority of mothers did not undergo the minimum number of prenatal consultations recommended by the World Health Organization and that 90% of them experienced complications during pregnancy. Prematurity and respiratory distress syndrome were the main causes that led the newborns to require IMV as ventilatory support. [Extracted from the article]

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

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Abstract Purpose To evaluate maternal-fetal surveillance and follow-up of infants at risk for congenital syphilis (CS). Methods Retrospective cohort study in a Portuguese Tertiary Referral Hospital. The main inclusion criterion was a positive syphilis serology. The study included all pregnant women that delivered in our hospital between January 2004 and December 2013. The neonates were classified according to their probability of infection based on the Centers for Disease Control and Prevention guidelines. Results Among the 27 pregnancies at risk for CS, 48.2% (n = 13) of the women had a diagnosis during the 1st trimester, and the median gestational age at the end of the treatment was 28 weeks. Inadequate treatment was noted in 44.4% (n = 12) of the women. Adverse pregnancy outcomes were observed in 30.8% of the cases (n = 8), 5 of which had been adequately treated. We found 2 (7.7%) cases with “proven or highly probable CS,” 10 (38.5%) with “possible CS,” 12 (46.1%) with “less likely CS,” and 2 (7.7%) with “unlikely CS.”Among the infants, the treatment was successful, except for 1 neurosyphilis case. Conclusion This study highlights many of the difficulties/concerns encountered in the maternal-neonatal management of syphilis. We highlight the importance of assuring the early detection of the infection as a way of guaranteeing the timely treatment, as well as a good compliance to the treatment and follow-up through a more efficient pregnant women surveillance network.

Abstract Objective To describe the prenatal diagnosis of Galen vein aneurysm (GVA) based on ultrasonography and magnetic resonance imaging (MRI) in a series of cases, as well as its postnatal outcomes and follow-up until 4 years of age. Methods A retrospective longitudinal study was performed, analyzing a database comprising seven cases of prenatal diagnosis of GVA at two Brazilian institutions from February of 2000 to May of 2012. The following data were evaluated: gestational age at diagnosis, GVA dimensions on ultrasonography, associated fetal changes, findings on fetal echocardiography, gestational age at delivery, type of delivery, birth weight, Apgar score at the 1st and 5th minutes, neonatal outcomes, and survival with follow-up until 4 years of age. Results The mean gestational age ± standard deviation on the prenatal diagnosis of GVA based on ultrasonography was 25±4.9 weeks. The mean length of GVA was 3.2±0.4 cm. The mean gestational age at birth was 37.5±0.7 weeks, and a cesarean section was performed in 85.7% of the cases (6/7). The mean birth weight was 3,070±240.4 g. The total survival rate was 42.8% (4/7), with three neonatal deaths. Of the four survivors, three presented with normal neuropsychomotor development until 4 years of age and only one showed serious neurological sequelae. Ultrasonography and MRI showed similar findings for all seven cases. Conclusions Galen Vein Aneurysm is associated with a high neonatal death rate. Therefore, its prenatal diagnosis is essential for parent counseling and follow-up at tertiary care institutions.

Abstract A case was reported of a fetus with the anomaly of limb body wall complex associated with placenta accreta. To date, only one account of this condition has been published in the world literature. Due to the low frequency of both complications, the hypothesis has been raised that this association may have happened not by mere coincidence, but rather by a possible common etiopathogenic mechanism. For the first time, a study proposes the existence of a possible etiopathogenic connection between the anomaly of limb body wall complex and hypoxic disorders caused by inadequate placentation in previous uterine scarring.

Introduction: Hydranencephaly is the most severe form of bilateral cerebral cortical destruction which the differential diagnosis includes severe hydrocephalus, alobar holoprosencephaly and Walker-Warburg syndrome. It is a rare anomaly, occurring in less than 1 per 10,000 births worldwide. Objective: Report a rare case of hydranencephalia diagnosed by obstetric ultrasonography correlated with transfontanelar ultrasonography and computed tomography scan. Materials and Methods: We carried out a review of medical records, photographic record of diagnostic methods, and review from the literature. Results: We report a 33 years-old female patient, with 33 weeks and 05 day of gestation reffering loss of amniotic fluid. Obstetric ultrasonography shows close destruction of the brain parenchyma replaced by cerebrospinal fluid. The falx cerebri is present. Those features are compatible with hydranencephaly. Conclusion: We report a rare case of hydranencephaly comparing prenatal diagnosis - obstetric ultrasonography - with postnatal exams - transfontanelar ultrasonography and computed tomography. [ABSTRACT FROM AUTHOR]

Abstract Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care.

A comunicação de notícias diagnósticas em contextos de saúde é um evento potencialmente impactante para todos os envolvidos. Contudo, apesar de constante no contexto médico-paciente, essa tarefa ainda é escassamente tratada na formação clínica. Assim, os objetivos deste estudo foram os de descrever e avaliar como as notícias difíceis podem ser comunicadas de forma mais abrandada em casos de síndromes e/ou de malformações fetais em consultas de aconselhamento genético. Para isso, foram analisadas 33 interações naturalísticas (i.e. situações reais de consultas), gravadas e transcritas, pela perspectiva teórica e metodológica da Análise da Conversa de base etnometodológica. Essas interações consistiram em consultas da genética clínica com gestantes atendidas em um serviço de medicina fetal de um hospital materno-infantil de referência do Sistema Único de Saúde (SUS). A análise evidenciou que a entrega de notícias difíceis pode ser acompanhada por perspectivas otimistas escalonadas conforme a gravidade de cada situação. Na ausência de diagnóstico, o fechamento das consultas pode ser realizado com aspectos positivos, como recomendações de cuidados paliativos, de forma que a paciente sempre saia da consulta com algum tipo de recomendação. Propõe-se, com este estudo, inovar e alargar o escopo de estudos sobre a comunicação de notícias difíceis na relação médico-paciente no Brasil, justamente ao desenvolver uma análise de interações reais de atendimento e, assim, prover subsídios interacionais para a formação de profissionais da saúde que têm essa tarefa em sua rotina.

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Resumo Justificativa e objetivos A oclusão traqueal fetal temporária feita por meio da fetoscopia acelera o desenvolvimento pulmonar e reduz a mortalidade neonatal. O objetivo deste trabalho é apresentar experiência anestésica em gestantes cujos fetos eram portadores de hérnia diafragmática e foram submetidos à oclusão traqueal por fetoscopia (FETO). Método Estudo retrospectivo, descritivo, aprovado pelo Comitê de Ética da Instituição. Os dados foram obtidos das fichas anestésicas e dos prontuários. Resultados A FETO foi feita em 28 gestantes. Características demográficos: idade 29,8 ± 6,5; peso 68,64 ± 12,26; ASA I e II. Obstétricas: IG 26,1 ± 1,10 semana (na FETO); 32,86 ± 1,58 (desoclusão); 34,96 ± 2,78 (parto). Via de parto: cesárea, parto vaginal. Dados fetais: peso (g) nos momentos da oclusão e nascimento, respectivamente (1.045,82 ± 222,2 e 2294 ± 553); RPC na FETO e desoclusão: 0,7 ± 0,15 e 1,32 ± 0,34, respectivamente. Anestesia materna: pré‐operatório incluiu ranitidina e metoclopramida; nifedipina (VO) e indometacina (retal). Medicação pré‐anestésica com midazolam EV. Técnicas anestésicas: bloqueio combinado com bupivacaína 0,5% hiperbárica 5‐10 mg associada ao sufentanil; peridural contínua predominantemente com bupivacaína 0,5% associada a sufentanil, fentanil ou morfina; geral. Em oito casos houve necessidade de complementação pelo cateter, cinco nas submetidas a PC e três a BC. No intraoperatório 13 pacientes necessitaram de sedação; efedrina foi usada em 15 pacientes. Anestesia fetal: fentanil 10 a 20 mg.kg −1 e pancurônio 0,1‐0,2 mg.kg −1 (IM). A taxa de sobrevida neonatal foi de 60,7%. Conclusão A FETO constitui técnica minimamente invasiva para correção de hérnia diafragmática congênita grave. O bloqueio combinado associado à sedação e anestesia fetal se mostrou seguro e eficaz para a oclusão traqueal. Background and objectives The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO). Method Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. Results FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8 ± 6.5; weight 68.64 ± 12.26; ASA I and II. Obstetric: IG 26.1 ± 1.10 weeks (in FETO); 32.86 ± 1.58 (reversal of occlusion); 34.96 ± 2.78 (delivery). Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g) in the occlusion and delivery times, respectively (1045.82 ± 222.2 and 2294 ± 553); RPC in FETO and reversal of occlusion: 0.7 ± 0.15 and 1.32 ± 0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO) and indomethacin (rectal). Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5‐10 mg) and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal Anesthesia: fentanyl 10 to 20 mg·kg −1 and pancuronium 0,1‐0,2 mg·kg −1 (IM). Neonatal survival rate was 60.7%. Conclusion FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion. [ABSTRACT FROM AUTHOR]

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OBJETIVO: Verificar a soroprevalência do vírus da imunodeficiência humana (HIV), hepatite B (VHB), toxoplasmose e rubéola em gestantes do noroeste paranaense. MÉTODOS: Foi realizado um estudo retrospectivo a partir dos resultados de exames sorológicos de triagem no pré-natal de 1.534 pacientes atendidas durante o primeiro semestre de 2010. Foram incluídos somente resultados do primeiro exame de pré-natal e aqueles com pesquisa simultânea de IgG e IgM para toxoplasmose e rubéola. A sorologia foi realizada por enzimaimunoensaio em micropartículas (MEIA). Para análise estatística foi empregado o teste do χ², com nível de significância de 5%. RESULTADOS: A positividade para o HIV foi de 0,3%, a sorologia para VHB pelo marcador HBsAg foi positiva em 0,5% das gestantes, enquanto a reatividade para anticorpos IgM anti-Toxoplasma gondii foi de 1,1% e para IgG de 59%. Em relação à rubéola nenhuma sorologia mostrou positividade para IgM, e para IgG a reatividade foi de 99,6%. A análise dos resultados mostrou que não há associação entre as soroprevalências estudadas e a idade das pacientes, exceto quanto à frequência de IgG anti-T. gondii, que foi mais elevada na faixa etária entre 30 e 44 anos. CONCLUSÃO: A soroprevalência dessas doenças infecciosas em gestantes do noroeste do Paraná é compatível com outras regiões do Brasil.PURPOSE: To ascertain the seroprevalence of human immunodeficiency virus (HIV), hepatitis B (HBV), toxoplasmosis and rubella infections in pregnant women in northwestern Paraná. METHODS: We conducted a retrospective study based on the results of serological screening during prenatal care of 1,534 patients during the first half of 2010. We included only results from the first prenatal exam and with a simultaneous search for IgG and IgM antibodies to rubella and toxoplasmosis. Serology was performed by microparticle enzyme immunoassay (MEIA). Data were analyzed statistically by the χ² test, with the level of significance set at 5%. RESULTS: HIV positivity was 0.3%, positivity of HBV serology (HbsAg) was 0.5%, reactivity to IgM antibodies to Toxoplasma gondii was 1.1%, and reactivity to IgG antibodies was 59.0%. For rubella, no patient was positive for IgM, and IgG reactivity was 99.6%. Data analysis showed no statistical association between seroprevalence and patient age, except for the frequency of anti-T. gondii IgG, which was higher in the 30 to 44 year age group. CONCLUSION: The prevalence of these infectious diseases in pregnant women from northwestern Paraná is comparable to that observed in other regions of Brazil.

OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ² para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado.PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.

OBJETIVO: avaliar o desempenho do rastreamento combinado do primeiro trimestre da gestação na detecção de anomalias cromossômicas em um grupo da população brasileira. MÉTODO: estudo retrospectivo envolvendo gestantes com feto único, referidas ao setor de medicina fetal para a realização do teste de rastreamento do primeiro trimestre da gestação pela combinação da idade materna, a medida da translucência nucal e dois marcadores bioquímicos do soro materno: free B-hCG e PAPP-A. Para avaliar o desempenho do teste foram calculados a sensibilidade, especificidade, valores preditivos positivos e negativos e as taxas de falso positivo, considerando como risco elevado valores superiores a 1:300. RESULTADOS: foram incluídas 456 gestantes submetidas ao teste. A idade materna avançada, acima de 35 anos, ocorreu em 36,2% dos casos. A incidência de cromossomopatia na população estudada foi de 2,2%. Vinte e uma das gestantes (4,6%) apresentou risco elevado ao teste (superior a 1:300). Usando-se este ponto de corte, a sensibilidade do teste foi de 70% para as cromossomopatias em geral e 83,3% para os casos de trissomia do cromossomo 21, com taxa de falso positivo de 3,1%. CONCLUSÃO: o rastreamento combinado do primeiro trimestre foi eficaz na detecção das anomalias cromossômicas, principalmente em relação aos casos de trissomia 21, com baixas taxas de falso positivo. Observou-se importante contribuição do teste em reduzir a indicação do exame invasivo comparado ao uso da idade materna como fator de risco.PURPOSE: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population. METHODS: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To evaluate the performance of the test, the detection rate, specificity, negative and positive predicted values and false-positive rates were calculated, considering as high risk the cut-off value above 1 in 300. RESULTS: we studied 456 patients submitted to the test. Advanced maternal age above 35 years was observed in 36.2% of cases. The incidence of chromosomal abnormalities in the study population was 2.2%. Twenty-one patients (4.6%) presented a high risk (above 1:300) by the combined test. Using this cut-off level, the detection rate of the test was 70% for all chromosomal abnormalities and 83.3% for trisomy 21, for a false-positive rate of 3.1%. CONCLUSIONS: the combined first trimester screening was effective to detect chromosomal abnormalities, mainly for trisomy 21, with low false-positive rates. The combined test contributed to decreasing the indication of an invasive test if we compare to maternal age alone as a risk factor.

OBJETIVO: analisar a evolução dos casos de gêmeos unidos do diagnóstico pré-natal ao desfecho após o nascimento. MÉTODOS: análise descritiva, retrospectiva, dos casos de gêmeos unidos diagnosticados por exame ultrassonográfico durante o pré-natal. Foram avaliadas as características maternas, os exames ultrassonográficos e de ecocardiografia fetal do período antenatal, os dados do parto e dos recém-nascidos, bem como os resultados da separação cirúrgica e anatomopatológico. Os gêmeos foram classificados segundo o tipo de união e dados referentes aos aspectos ultrassonográficos, parto, evolução pós-natal e de sobrevida foram analisados. RESULTADOS: quarenta casos de gêmeos unidos foram incluídos no estudo. Observou-se 72,5% de toracópagos, 12,5% de parápagos, 7,5% de onfalo-isquiópagos, 5% de onfalópagos e 2,5% de cefalópagos. A autorização judicial para interrupção da gestação foi solicitada em 58,8% dos casos. Todos os casos em que não se realizou a interrupção judicial da gestação, o parto foi cesárea, em idade gestacional média de 35 semanas. Todos nasceram vivos com mediana do peso de 3.860 g e 88% evoluíram para óbito pós-natal. Dos nascidos vivos, 10% foram submetidos à separação cirúrgica com sobrevida de 60%. A sobrevida geral foi de 7,5% e a pós-natal, de 12%. A avaliação antenatal da letalidade e da possibilidade de separação cirúrgica pós-natal foi precisa. Não foram observadas complicações maternas relacionadas ao parto. CONCLUSÃO: a gemelidade imperfeita apresenta prognóstico sombrio, relacionado, principalmente, às fusões cardíacas complexas presentes na maioria dos toracópagos. Em centros de referência, a avaliação ultrassonográfica e ecocardiográfica antenatal delineia com acurácia o prognóstico de letalidade e de possibilidade de separação cirúrgica pós-natal.PURPOSE: the aim of this study was to analyze conjoined twins in terms of antenatal, delivery and postnatal aspects. METHODS: a retrospective descriptive analysis of prenatally diagnosed conjoined twins. Prenatal ultrasound and echocardiography, delivery details, postnatal follow-up, surgical separation and post mortem data were reviewed. The twins were classified according to the type of fusion between fetal structures. The following data were analyzed: ultrasound and echocardiographic findings, antenatal lethality and possibility of surgical separation, delivery details and survival rates. RESULTS: forty cases of conjoined twins were included in the study. There were 72.5% cases of thoracophagus, 12.5% of paraphagus, 7.5% of omphalo-ischiophagus, 5.0% of omphalophagus, and 2.5% of cephalophagus. Judicial termination of pregnancy was requested in 58.8% of the cases. Cesarean section was performed in all cases in which pregnancy was not terminated. The mean gestational age at delivery was 35 weeks; all twins were live births with a mean birth weight of 3,860 g and 88% died postnatally. Ten percent of the live borns were submitted to surgical separation with a 60% survival rate. The total survival rate was 7.5% and postnatal survival was 12%. Antenatal evaluation of lethality and possibility of surgical separation were precise. There were no maternal complications related to delivery. CONCLUSION: conjoined twins present a dismal prognosis mainly related to the complex cardiac fusion present in the majority of cases with thoracic sharing. At referring centers, prenatal ultrasound and echocardiographic evaluation accurately delineate fetal prognosis and the possibility of postnatal surgical separation.

OBJECTIVE: To validate a new symphysis-fundal curve for screening fetal growth deviations and to compare its performance with the standard curve adopted by the Brazilian Ministry of Health. METHODS: Observational study including a total of 753 low-risk pregnant women with gestational age above 27 weeks between March to October 2006 in the city of João Pessoa, Northeastern Brazil. Symphisys-fundal was measured using a standard technique recommended by the Brazilian Ministry of Health. Estimated fetal weight assessed through ultrasound using the Brazilian fetal weight chart for gestational age was the gold standard. A subsample of 122 women with neonatal weight measurements was taken up to seven days after estimated fetal weight measurements and symphisys-fundal classification was compared with Lubchenco growth reference curve as gold standard. Sensitivity, specificity, positive and negative predictive values were calculated. The McNemar χ2 test was used for comparing sensitivity of both symphisys-fundal curves studied. RESULTS: The sensitivity of the new curve for detecting small for gestational age fetuses was 51.6% while that of the Brazilian Ministry of Health reference curve was significantly lower (12.5%). In the subsample using neonatal weight as gold standard, the sensitivity of the new reference curve was 85.7% while that of the Brazilian Ministry of Health was 42.9% for detecting small for gestational age. CONCLUSIONS: The diagnostic performance of the new curve for detecting small for gestational age fetuses was significantly higher than that of the Brazilian Ministry of Health reference curve.OBJETIVO: Validar la curva de referencia de altura uterina por edad de gestación para el rastreo de desvíos del crecimiento fetal y comparar su performance con la curva estándar adoptada por el Ministerio de la Salud de Brasil. MÉTODOS: Estudio observacional que envolvió 753 gestantes de bajo riesgo de Joao Pessoa, Noreste de Brasil, entre marzo y octubre de 2006, con edad de gestación por encima de 27 semanas. La altura uterina fue medida de acuerdo con técnica recomendada por el Ministerio de la Salud. El patrón-oro fue el peso fetal, estimado por el ultrasonido con base en la curva de referencia brasilera por edad de gestación. Una sub-muestra de 122 casos con pesos neonatales obtenidos hasta siete días después de la estimación del peso fetal, la clasificación de la altura uterina fue comparada con la curva de Lubchenco como estándar-oro. La sensibilidad, la especificidad y los valores predictivos positivo y negativo fueron calculados. Para comparar el desempeño de la sensibilidad entre ambas curvas de altura uterina, se utilizó la prueba chi-cuadrado de McNemar. RESULTADOS: La sensibilidad de la nueva curva para la detección de fetos pequeños para la edad de gestación fue de 51,6%, mientras que la curva del patrón-oro fue significativamente menor (12,5%). En la sub-muestra que tuvo el peso neonatal como estándar-oro, la sensibilidad de la nueva curva de referencia fue de 87,7%, mientras que la del Ministerio de la Salud exhibió 42,9% de sensibilidad para la detección de fetos pequeños para la edad de gestación. CONCLUSIONES: La capacidad diagnóstica de la nueva curva de referencia para detectar fetos pequeños para la edad de gestación fue significativamente mejor que la curva recomendada por el Ministerio de la Salud.OBJETIVO: Validar curva de referência de altura uterina por idade gestacional para o rastreamento de desvios do crescimento fetal e comparar sua performance com a curva-padrão adotada pelo Ministério da Saúde do Brasil. MÉTODOS: Estudo observacional que envolveu 753 gestantes de baixo risco de João Pessoa, PB, entre março e outubro de 2006, com idade gestacional acima de 27 semanas. A altura uterina foi medida de acordo com técnica preconizada pelo Ministério da Saúde. O padrão-ouro foi o peso fetal, estimado pelo ultrassom com base na curva de referência brasileira por idade gestacional. Uma subamostra de 122 casos com pesos neonatais obtidos até sete dias depois da estimativa do peso fetal, a classificação da altura uterina foi comparada com a curva de Lubchenco como padrão-ouro. A sensibilidade, a especificidade e os valores preditivos positivo e negativo foram calculados. Para comparar o desempenho da sensibilidade entre ambas as curvas de altura uterina, utilizou-se o teste χ2 de McNemar. RESULTADOS: A sensibilidade da nova curva para a detecção de fetos pequenos para a idade gestacional foi de 51,6%, enquanto a da curva do padrão-ouro foi significativamente menor (12,5%). Na subamostra que teve o peso neonatal como padrão-ouro, a sensibilidade da nova curva de referência foi de 85,7%, enquanto a do Ministério da Saúde exibiu 42,9% de sensibilidade para a detecção de fetos pequenos para a idade gestacional. CONCLUSÕES: A capacidade diagnóstica da nova curva de referência para detectar fetos pequenos para a idade gestacional foi significativamente melhor do que a da curva recomendada pelo Ministério da Saúde.

OBJETIVO: analisar a ocorrência de gemelaridade conjugada em um hospital universitário de referência terciária em perinatologia durante 25 anos (janeiro de 1982 e janeiro de 2007) e descrever a separação bem sucedida de um dos pares. MÉTODOS: para este fim, utilizamos retrospectivamente o banco de dados do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, obtendo o número de pares de gêmeos conjugados, sua frequência, classificação, gênero, forma de resolução da gravidez, tentativa de separação cirúrgica, diagnóstico pré-natal e sobrevida. RESULTADOS: detectamos 14 pares de gêmeos conjugados (1/22.284 nascidos vivos e 1/90 pares de gêmeos nascidos vivos) nascidos neste período (seis masculinos, sete femininos e um com sexo indeterminado). O diagnóstico pré-natal foi realizado em todos os gêmeos, e os nascimentos ocorreram por cesariana. A separação só foi possível em um dos pares, que sobrevivem em ótimas condições de saúde após oito anos. Dos 13 restantes, dez morreram no mesmo dia do nascimento e três sobreviveram apenas alguns meses (menos de um ano). CONCLUSÃO: apesar de este estudo evidenciar um número anormalmente alto de gêmeos conjugados, trata-se de um fenômeno raro, de prognóstico perinatal reservado e dependente do compartilhamento de órgãos entre os gêmeos e malformações associadas, em especial relacionadas ao coração dos fetos. Devido ao mau prognóstico dos pares e do comprometimento reprodutivo materno pela necessidade de realização de cesariana com grandes incisões uterinas, propomos que, com base nestes números, seja solicitada a interrupção precoce destas gestações, como ocorre com outras doenças fetais incompatíveis com a sobrevida extrauterina. Desta forma, a confirmação diagnóstica e a resolução da gravidez de gêmeos conjugados deve ser realizada em centro de atendimento terciário tanto obstétrico quanto perinatal, e a autorização para a interrupção da gestação obtida por via judicial.PURPOSE: to analyze the occurrence of conjoined twins at a tertiary perinatology reference university hospital over a period of 25 years (January 1982 to January 2007) and to describe the successful separation of one of the pairs. METHODS: we consulted retrospectively the database of the University Hospital of the Medical School of Ribeirão Preto, University of São Paulo, Brazil, in order to determine the number of pairs of conjoined twins, their frequency, classification, gender, type of pregnancy resolution, attempted surgical separation, prenatal diagnosis and survival. RESULTS: we detected 14 pairs of conjoined twins (1/22,284 live births and 1/90 pairs of twin live births) born during this period (six males, seven females and one of indeterminate sex). The prenatal diagnosis was performed in all twins and all births were accomplished by cesarean section. The separation was possible in only one pair, which survives in excellent health conditions after eight years. Of the remaining 13, ten died on the day of birth and three survived only a few months (less than one year). CONCLUSION: Although our study revealed an abnormally high number of conjoined twins, this is a rare phenomenon, with a poor perinatal prognosis depending on the organs shared by the twins and associated malformations, especially those related to the fetal heart. Due to the poor prognosis of these pairs and to the maternal reproductive impairment caused by the need to perform body cesareans, we suggest that, based on these numbers, early interruption of these pregnancies be legally granted, as in the case of other diseases incompatible with fetal survival outside the uterus. Thus, the confirmation of a diagnosis of conjoined twins and the resolution of pregnancy should be performed at a tertiary obstetric and perinatal care center, and an authorization for the interruption of pregnancy should be obtained by judicial means.

OBJETIVO: determinar fatores associados ao volume de líquido amniótico e frequências de anomalias fetais em um centro de referência. MÉTODOS: realizou-se um estudo de corte transversal, com gestantes de risco, avaliadas pela ultrassonografia morfológica, no período de março de 2002 a março de 2006, em uma instituição em Recife (PE) Brasil. O diagnóstico intraútero foi confirmado no pós-parto. As características sociodemográficas e obstétricas, o índice de líquido amniótico e a presença de anomalias fetais foram variáveis estudadas. Para verificar associação entre variáveis, foram utilizados testes χ2, exato de Fisher e t de Student, a um nível de significância de 5%. Foram calculados a razão de prevalência e o intervalo de confiança a 95%. Análise de regressão logística múltipla foi realizada, a um nível de significância de 5%. RESULTADOS: foram incluídas no estudo 257 (56,2%) gestantes com anomalias congênitas e 200 sem anomalias confirmadas no pós-natal. As médias das idades maternas e gestacionais do parto foram 24,8±6,5 anos e 35,9±3,7 semanas, respectivamente. As anomalias fetais foram mais encontradas no sistema nervoso central (50,6%) e trato geniturinário (23,0%). A presença de anomalias congênitas esteve associada significativamente ao líquido diminuído/oligohidrâmnio (p=0,0002) e líquido aumentado/polihidrâmnio (pPURPOSE: to determine factors associated to amniotic fluid volume and frequencies of fetal anomalies, in a reference center in Pernambuco. METHODS: a transversal study performed in high-risk pregnant women submitted to obstetrical morphological ultrasound, from March 2002 to March 2006, at an institution from Recife, Pernambuco, Brasil. The intrauterine diagnosis was confirmed after birth. Sociodemographic and obstetrical characteristics, amniotic liquid volume and presence of fetal anomalies were the variables studied. Fisher's exact, χ2, and Student's t tests, at a significance level of 5% were applied to verify the correlation among the variables. Prevalence rate and confidence interval at 95% were calculated. Multiple logistic regression analysis was performed at a significance level of 5%. RESULTS: Two hundred and fifty-seven pregnant women (56.2%) with congenital anomalies and 200 (43.8%) without anomalies, confirmed in the postnatal, were included in the study. The average of maternal ages and gestation periods were 24.8±6.5 years and 35.9±3.7 weeks, respectively. The fetal anomalies were discovered in the central nervous system (50.6%) and genitourinary tract (23.0%). The presence of congenital anomalies were significantly linked with reduced liquid/oligohydramnios (p=0.0002) and increased liquid/polyhydramnios (p

OBJETIVO: verificar a quantidade de células CD68+ no estroma das vilosidades coriônicas na placenta de gestações submetidas ou não ao trabalho de parto. MÉTODOS: estudo transversal, com gestantes saudáveis a termo, das quais 31 placentas foram examinadas pela técnica de imunoistoquímica. Vinte placentas foram obtidas após partos vaginais (GVAG) e 11 obtidas em cesarianas eletivas (GCES). Lâminas foram preparadas com amostras de vilosidades coriônicas e submetidas à marcação com anticorpo anti-CD68, específico para macrófagos. Foram contadas as células marcadas e as não marcadas dentro das vilosidades. Testes estatísticos não-paramétricos foram utilizados para a análise. RESULTADOS: entre 6.424 células contadas no estroma das vilosidades das 31 placentas, 1.135 células (17,6%) foram marcadas pelo CD68+. Em cada amostra placentária, a média de células coradas pelo anticorpo anti-CD68 foi de 22±18 para o grupo GVAG e de 20±16 para o grupo GCES. CONCLUSÕES: não houve diferenças significantes no percentual de macrófagos (CD68+) em associação com o trabalho de parto.PURPOSE: to verify the amount of CD68+ cells in chorionic villosities in placentae from gestations submitted or not to labor. METHODS: transversal study with healthy near-term pregnant women, among whose placentae, 31 have been examined by immunohistochemical technique. Twenty placentae were obtained after vaginal delivery (VAGG) and eleven after elective cesarean sections (CESG). Slides were prepared with chorionic villosities samples and labeled with anti-CD68 antibody, specific for macrophages. Labeled and nonlabeled cells were counted inside the villosities. Non-parametric statistical tests were used for the analysis. RESULTS: among the 6,424 cells counted in the villosities' stroma from the 31 placentae, 1,135 cells (17.6%) were stained by the CD68+. The mean of cells labeled by the anti-CD68 was 22±18 for the VAGG group and 20±16 for the CESG, in each placentary sample. CONCLUSIONS: there were no significant differences in the percentage of macrophages (CD68+) in association with labor.

We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after birth. In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Discrepant findings between fetal karyotype results and sonographic findings require great caution in their interpretation and counseling of parents. Placental confined mosaicism seems to be the most frequent cause of such discrepant results. The interpretation of fetal karyotype results should always be correlated with sonographic and clinical findings.

Foi realizado estudo transversal, em duas maternidades públicas de Belo Horizonte, Minas Gerais, Brasil, com entrevista de 420 puérperas, de agosto de 2004 a maio de 2005, para avaliar a aplicação do protocolo de triagem pré-natal para toxoplasmose implantado, e as orientações oferecidas às gestantes suscetíveis. A cobertura do pré-natal foi de 98%, e da primeira triagem sorológica de 97%. O início do pré-natal e a realização da primeira sorologia ocorreram em média com 16 semanas. Foram identificadas 163 gestantes suscetíveis à toxoplasmose: 44% não repetiram a sorologia, e 42% alegaram não ter recebido orientações para prevenção da toxoplasmose. O início precoce do pré-natal e um maior número de consultas foram associados à repetição da sorologia e ao recebimento de orientações. As informações oferecidas foram: evitar contato com gatos (95%), não ingerir ou manipular carne crua (70%) e lavar cuidadosamente as hortaliças (53%). Concluiu-se que a adesão inadequada ao protocolo de triagem pré-natal de toxoplasmose encontrada no estudo pode gerar gastos financeiros sem melhoria na qualidade do cuidado perinatal.This cross-sectional study of 420 women in two public maternity hospitals from August 2004 to May 2005 evaluated the application of a prenatal toxoplasmosis serological screening protocol in Belo Horizonte, Minas Gerais State, Brazil, and the information provided to susceptible pregnant women. Ninety-eight percent of women received prenatal care and 97% underwent the initial serological screening test, at an average of 16 weeks gestational age. The initial testing identified 163 women as susceptible to toxoplasmosis: 44% of these did not undergo repeat serological testing, and 42% of them did not remember having received information on the prevention of toxoplasmosis infection. Early prenatal care and a high number of prenatal visits were associated with repeat serological testing and orientation regarding its implications. Orientation on risk factors included: avoiding contact with cats (95%), not handling or eating raw meat (70%), and washing vegetables carefully before consumption (53%). Inadequate adherence to the prenatal screening protocol for toxoplasmosis, as detected in this study, may be generating health system costs without a corresponding improvement in the quality of perinatal care.

Um efetivo rastreio para anomalias cromossômicas pode ser realizado no primeiro trimestre da gestação. A associação entre a transluscência nucal (TN) e as concentrações séricas maternas da fração beta-livre da gonadotrofina coriônica humana e da proteína plasmática-A associada à gestação pode identificar 90% dos fetos com trissomia do cromossomo 21 e outras anomalias cromossômicas, com uma taxa de falso-positivo de 5%. Esses números são superiores aos obtidos pelo rastreio utilizando-se apenas a idade materna (30%) ou o rastreio bioquímico materno, no segundo trimestre da gestação (65%). Um rastreio mais eficaz, no primeiro trimestre, pode ser atingido por meio de uma avaliação ecográfica em dois tempos, dividindo-se as pacientes em grupos de alto, intermediário e baixo risco. No grupo de alto risco, o diagnóstico invasivo estaria indicado, ao contrário do grupo de baixo risco, no qual a presença de uma anomalia seria pouco provável. No grupo de risco intermediário (risco de 1 em 101 a 1 em 1.000), seria oferecida uma segunda avaliação ecográfica, para posicionar a paciente no grupo de alto ou baixo risco (presença/ausência do osso nasal ou presença/ausência da regurgitação tricúspide ou presença/ausência de alteração do fluxo sangüíneo no ducto venoso). A biópsia de vilo corial estaria indicada quando, após a realização da segunda abordagem, o risco ajustado da paciente se tornasse maior ou igual a 1 em 100. Essa segunda abordagem ecográfica deveria ser realizada por pessoal treinado, e os seus resultados deveriam ser constantemente avaliados, como um controle de qualidade. Esse processo foi estabelecido pela Fetal Medicine Foudation e aceito internacionalmente.Screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free human chorionic gonadotropin and pregnancy-associated plasma protein-A can identify 90% of fetuses with trisomy 21 and other major chromosomal abnormalities for a false-positive rate of 5%. This is superior to the 30% detection rate achieved by maternal age and 65% by second-trimester maternal serum biochemistry. A further improvement in the effectiveness of first-trimester screening is likely to be achieved by a risk-orientated two-stage approach. In this approach, the patients are subdivided into a high-risk group, requiring invasive testing; a low-risk group, which can be reassured that an abnormality is unlikely, and an intermediate-risk group (risk of 1 in 101 to 1 in 1000), in which further assessment is performed by first-trimester ultrasound examination (for presence/absence of the nasal bone or presence/absence of tricuspid regurgitation or normal/abnormal Doppler velocity waveform in the ductus venosus), and chorionic villus sampling is performed if their adjusted risk becomes 1 in 100 or more. Those performing first-trimester scans should be appropriately trained and their results subjected to external quality assurance. This process was well established by the Fetal Medical Foundation several years ago and is widely accepted internationally.

OBJETIVOS: comparar aspectos laboratoriais, terapêuticos e gastos com toxoplasmose em gestantes, em época prévia à implantação de protocolo clínico, a uma situação hipotética de aplicação de um protocolo. MÉTODOS: coorte histórica com gestantes inscritas no pré-natal de unidades básicas de saúde de Londrina, Paraná, que realizaram exames laboratoriais de rotina de pré-natal, incluindo sorologia para toxoplasmose aguda, no período de janeiro a novembro de 2004. Os dados foram obtidos na Secretaria Municipal de Saúde e no Hospital Universitário. A realização de exame confirmatório, tratamento e respectivos gastos foram comparados com dados provenientes de uma situação hipotética de implantação de um protocolo clínico. RESULTADOS: na situação real, em 75% das gestantes com IgM reagente para toxoplasmose não houve diagnóstico definitivo e, entre as que realizaram exame confirmatório, o tempo médio decorrido entre os dois exames foi de 23 semanas; 28,5% foram tratadas sem confirmação e no único caso confirmado não houve tratamento. Na comparação com a situação hipotética, a realização do exame confirmatório na mesma amostra de sangue possibilitaria diagnóstico definitivo a todas. Os menores gastos com medicamentos compensariam o aumento de custos com exames confirmatórios. CONCLUSÕES: os resultados demonstram a importância da implantação de protocolos clínicos de forma adequada, quer seja sob o ponto de vista de proteção à saúde, ou de economia.OBJECTIVES: to compare therapeutic and laboratory aspects of toxoplasmosis in pregnant women as well as its cost in a real situation and in a hypothetical situation employing a clinical protocol.METHODS: a time-series cohort study was carried out with pregnant women taking part between January and November 2004 in the prenatal program at the Primary Health Units in Londrina, Paraná, Brazil, whose prenatal routine laboratory tests included serology for acute toxoplasmosis. Data were obtained at the city's Department of Health and the University Hospital. Additional tests, treatment and corresponding expenses were compared with data from a hypothetical situation employing a clinical protocol. RESULTS: in the real situation, there was no definitive diagnosis for 75% of the pregnant women with reactive IgM for toxoplasmosis, and among those who underwent an additional test, the median time period between the two tests was 23 weeks; 28.5% of the women were treated without confirmation and a single confirmed case was not treated. Compared with the hypothetical situation, if an additional test had been carried out with the same blood sample it would have been possible to arrive at a definitive diagnosis of all cases. Lower expenditure on medicines would compensate for extra expenses related to additional tests. CONCLUSIONS: the results show the importance of an appropriate clinical protocol both for health protection and cost reduction.

O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and genetic testing of embryos. However, this technique has been performed for genodermatoses in only a few reference centers. Ultrasonography is a non-invasive test, but has a limited use in prenatal diagnosis of genodermatoses. Tridimensional ultrasonography usually establishes diagnosis late in pregnancy and there are only anecdotal reports of prenatal diagnosis of genodermatoses using this method.

OBJETIVO: avaliar complicações maternas e fetais após realização de biópsia de vilo corial (BVC) para diagnóstico pré-natal de alterações genéticas, na cidade de Salvador (BA). MÉTODOS: série de 958 gestantes de risco para cromossomopatias, submetidas à BVC realizada entre a nona e a 24ª semanas de gestação, por via transabdominal, utilizando agulha espinhal 18G 3½, guiada por ultra-sonografia, entre 1990 e 2006. As variáveis para a análise de complicações imediatas foram cólicas uterinas, hematoma subcoriônico, punção acidental da cavidade amniótica, dor no local da punção, amniorrexe, desconforto abdominal, bradicardia fetal e sangramento vaginal, e para complicações tardias, dor abdominal, sangramento vaginal, amniorrexe, infecção e abortamento espontâneo. Complicações obstétricas e fetais (parto prematuro, descolamento prematuro de placenta, placenta prévia e malformações anatômicas fetais) foram também estudadas. Para análise estatística, utilizaram-se o chi² e o teste t de Student ou Mann-Whitney; o nível de significância foi 5%. RESULTADOS: a média de idade das gestantes foi 36,3±4,9 anos. Complicações imediatas foram encontradas em 182 (19%) casos (cólica uterina em 14%, hematoma subcoriônico em 1,8% e punção amniótica acidental em 1,3%) e tardias em 32 (3,3%) casos (sangramento vaginal em 1,6%, dor abdominal em 1,4%, amniorrexe em 0,3% e aborto espontâneo em 1,6%). Não foi observado descolamento prematuro de placenta, placenta prévia ou malformação fetal. CONCLUSÕES: a BVC revelou-se procedimento simples e seguro. A BVC pode ser utilizada em gestantes que necessitam de diagnóstico pré-natal devido ao risco de anomalias genéticas.PURPOSE: to evaluate fetal maternal complications after chorionic villus sampling (CVS) for prenatal diagnosis of genetic disorders in pregnant women of Salvador (BA), Brazil. METHODS: case-series study of 958 pregnancies with high risk for chromosomal abnormality submitted to CVS transabdominal between the ninth to the 24th week of gestation, using an ultrasound-guided 18G 3½ spinal needle, from 1990 to 2006. The variables for the analysis of immediate complications were uterine cramps, subchorionic hematoma, accidental amniotic cavity punction, pain in the punction area, amniotic fluid leakage, abdominal discomfort, fetal arrhythmias and vaginal bleeding, and of late complication, abdominal pain, vaginal bleeding, amniotic fluid leakage, infection and spontaneous miscarriage. Premature labor, obstetrical complications (abruption placenta and placenta previa) and newborn malformation were also studied. Qui-square, Student’s "t" or Mann-Whitney tests were used for the statistical analysis; the significance level was 5%. RESULTS: maternal mean age was 36.3±4.9 years old. Immediate complications ware found in 182 (19%) cases (uterine cramp in 14%, subchorionic hematoma in 1.8% and accidental amniotic cavity punction in 1.3%). Late complications were found in 32 (3.3%) cases (vaginal bleeding in 1.6%, abdominal pain in 1.4%, amniotic fluid leakage in 0.3% and spontaneous miscarriage in 1.6% cases). There was no case of abruption placentae, placenta previa or fetal malformation. CONCLUSIONS: CVS is a simple and safe procedure. CVS should be performed in high risk pregnant patients who need prenatal diagnosis of fetal chromosomal abnormalities.

The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.La naturaleza no invasiva de la investigación del DNA fetal en la circulación materna representa una ventaja importante con relación a los métodos convencionales de diagnóstico prenatal. El uso de esta metodología implica la determinación del sexo fetal y el diagnóstico, el tratamiento intra-útero y la evaluación del pronóstico en muchas enfermedades. Las células fetales detectadas en la circulación maternal también pueden ser implicadas en enfermedades autoinmunes y representar una fuente potencial de células madre. Por otra parte, con la introducción de una tecnología que detecte el sexo fetal entre 6-8 semanas de gestación, existe la posibilidad de aborto precoz basada en la selección del sexo para los propósitos sociales. Esto implica una discusión ética previa sobre este problema. La introducción de nuevas técnicas no invasivas de diagnóstico prenatal y el conocimiento del Equipo de Enfermería con respecto a las nuevas metodologías pueden ser muy importantes a la madre y a sus niños, y ayudar al Consejo Genético de las familias.A natureza não invasiva para o feto da pesquisa de DNA fetal em circulação materna representa sua maior vantagem sobre os métodos convencionais de diagnóstico pré-natal. As aplicações desta metodologia envolvem a detecção do sexo fetal e o diagnóstico, tratamento intra-útero e avaliação do prognóstico de várias doenças. Já as células fetais detectadas em circulação materna podem estar envolvidas em doenças auto-imunes e representar uma fonte de células-tronco para as mães. Com a introdução comercial de uma técnica que detecta o sexo fetal entre 6-8 semanas, haveria o risco de abortos precoces devido à seleção do sexo por propósitos sociais, tornando necessária uma discussão prévia sobre os aspectos éticos desta questão. A introdução de novas técnicas não invasivas de diagnóstico pré-natal e o conhecimento das mesmas por parte da Equipe de Enfermagem poderão trazer grandes benefícios para a mãe e seus filhos, bem como auxiliar no Aconselhamento Genético das famílias.

A gemelaridade imperfeita é entidade bastante rara e de grande interesse para fetólogos e obstetras em geral. Sua incidência estimada varia de 1:50.000 a 1:200.000 nascimentos. Seu diagnóstico precoce se faz necessário, tendo em vista sua importância para o prognóstico da gestação, correta determinação da via de parto e o planejamento pós-natal. Os dois casos relatados são de gêmeos unidos diagnosticados no pré-natal através da ultra-sonografia e ressonância nuclear magnética, para estudo do compartilhamento dos órgãos e melhor definição das relações anatômicas. O primeiro par gemelar foi cefalópago, ou seja, unidos pela cabeça, tórax e abdome, com duas pelves e oito membros. O segundo foi toracópago, ou seja, unidos pelo tórax e abdome superior. A ressonância magnética pouco contribuiu para o diagnóstico de gêmeos unidos. Entretanto, se mostrou de grande auxílio na descrição dos órgãos compartilhados entre os fetos, contribuindo na definição do prognóstico fetal.Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome.

OBJETIVO: analisar os resultados obtidos em programa de rastreamento e diagnóstico de arritmias e cardiopatias congênitas centrado em uma unidade terciária e determinar a importância do diagnóstico precoce na evolução fetal e neonatal. MÉTODOS: foram analisados os resultados da avaliação cardíaca fetal efetuada em 1159 gestantes em dois níveis diferentes. Nível I: uso da ultra-sonografia morfológica com o objetivo de rastrear a presença de alteração cardíaca, sem estabelecer um diagnóstico diferencial. Nível II: por ecocardiograma fetal com o objetivo de diagnosticar as cardiopatias fetais existentes. Os resultados da detecção de arritmias bem como da avaliação das alterações estruturais foram comparados, sendo estabelecidas a sensibilidade e a especificidade para ambos os níveis no pré-natal, ao exame pós-natal ou à necropsia. A concordância entre ambos os níveis foi calculada pelo índice kappa. RESULTADOS: as arritmias detectadas no nível I foram confirmadas em todos os casos e não houve falso-negativos, sendo que em cinco pacientes houve necessidade de tratamento intra-útero. A detecção das alterações estruturais obtidas no nível I teve sensibilidade de 72% e especificidade de 98%, com 28% de falso-positivos. No nível II estes parâmetros foram, respectivamente, de 100 e 99%. De acordo com o coeficiente kappa de 57%, um grau de concordância de categoria moderada foi observado entre ambos os níveis. Das cardiopatias congênitas da nossa série 51% necessitaram intervenção farmacológica ou invasiva no período neonatal. CONCLUSÃO: o estudo ultra-sonográfico obstétrico é fundamental no rastreamento das alterações cardíacas fetais. O ecocardiograma fetal apresentou alto índice de sensibilidade e especificidade no diagnóstico das arritmias e cardiopatias congênitas, possibilitando o tratamento precoce das alterações graves.PURPOSE: to analyze the results of a screening and diagnostic program of arrhythmias and congenital heart disease in a reference hospital and the relevance of early diagnosis in the fetal and neonate evolution. METHODS: cardiac evaluation of 1159 fetuses was done in two different levels. Level I: by morphological ultrasound examination with the objective to detect the existence of either arrhythmias or structural cardiac malformations. Level II: by fetal echocardiography to establish the differential diagnosis. The results of level I in the arrhythmia group were compared with those of level II, and in the group with malformations the results of both levels were confronted with the neonate echocardiogram or necropsy. The kappa index was calculated to evaluate the concordance between the two levels. RESULTS: all detected arrhythmias in level I were confirmed in level II, there were no false negative cases and five patients with severe arrhythmia required pharmacological therapy. The diagnosis of structural malformation by level I had sensitivity of 72% and specificity of 98% and there were 28% of false-positive cases. In level II, the sensitivity and specificity of the diagnosis of congenital heart disease were 100 and 99%, respectively. The kappa index was 57% and indicated a moderate degree of concordance between the two levels. Fifty-one percent of the fetuses with diagnosis of cardiac malformations required pharmacological or invasive intervention immediately after birth. CONCLUSION: morphological ultrasound examination is a important tool in the screening of arrhythmias and congenital heart defects during fetal life. The sensitivity and specificity of the fetal echocardiogram were very high and the early diagnosis made it possible to treat the fetus with severe cardiac disease either during pregnancy or immediately after birth.