Prenatal natural history of isolated fetal mild bilateral pyelectasis

OBJECTIVE: To analyze the prenatal outcomes in a cohort of fetuses with mild bilateral pyelectasis and determine whether performing serial ultrasounds is a good follow-up strategy. METHODS: A prospective longitudinal study was conducted on 62 fetuses with mild bilateral pyelectasis. Fetal mild bilateral pyelectasis was considered when the renal pelvis measured (in millimeters) ≥5.0 to 10.0, ≥7.0 to 10.0, and ≥10.0 to 15 at ≤23 weeks 6 days, 24 to 31 weeks 6 days, and ≥32 weeks, respectively, with no uretero-calyceal dilatation. Ultrasounds were performed every 3 weeks to assess whether the mild bilateral pyelectasis regressed, remained unchanged (Group 1) or progressed (Group 2). RESULTS: Group 1 consisted of 53 fetuses (85.4%), and progression was observed in 9 cases (Group 2, 14.6%). The initial renal pelvis diameter was significantly larger in fetuses with progression (p=0.028). Statistically significant differences in the renal pelvis diameter were also found at weeks 31 and 35 for both kidneys (

Diagnóstico pré-natal e evolução perinatal de 38 casos de hérnia diafragmática congênita: 8 anos de experiência de um serviço terciário brasileiro

PURPOSE: To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally. METHOD: We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational age at diagnosis, fetal karyotyping, side of diaphragmatic defect, presence of associated structural malformations, hepatic herniation, and severe mediastinal shift. Perinatal outcomes were obtained by reviewing hospital documents or by directly calling the patients' immediate relatives. RESULTS: Mean gestational age at diagnosis was 29 weeks (range, 16-37 weeks).Thirty (79%) cases had a left diaphragmatic defect and 8 (21%) had a right lesion. Associated structural malformations were observed in 21 (55%) cases, in which 12 fetuses had a normal karyotype and 9 had chromosomal abnormalities. Isolated congenital diaphragmatic hernia was confirmed in 17 (45%) cases. The overall perinatal mortality rate was 92%. Rates of fetal deaths, early neonatal deaths, late neonatal deaths, and survival were 42%, 50%, 0%, and 8%, respectively, in cases with associated structural malformations but normal karyotyping; 56%, 44%, 0%, and 0% for cases with chromosomal abnormalities; and, 0%, 76%, 12%, and 12% in cases with isolated congenital diaphragmatic hernia. The neonatal mortality rate was 89% in cases with isolated congenital diaphragmatic hernia. CONCLUSION: Perinatal mortality was very high in prenatally diagnosed cases of congenital diaphragmatic hernia. Earlier perinatal deaths are associated with the presence of other structural defects or chromosomal abnormalities. In cases of isolated congenital diaphragmatic hernia, mortality is related to the presence of herniated liver, right-sided lesion, and major mediastinal shift.OBJETIVO: Avaliar os resultados neonatais dos casos de hérnia diafragmática congênita com diagnóstico pré-natal. PACIENTES E MÉTODOS: De janeiro de 1995 a dezembro de 2003 foram revisados os dados de 38 fetos com hérnia diafragmática diagnosticada durante o período pré-natal na Unidade de Medicina Fetal do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo. Os dados pré-natais analisados foram: idade gestacional no diagnóstico, cariótipo fetal, lado da lesão, presença de malformação estrutural associada, herniação hepática e desvio garve de mediastino. Os dados perinatais foram avaliados consultando os prontuários médicos ou por contato telefônico. RESULTADOS: A idade gestacional média no diagnóstico foi de 29 semanas (16-37). Trinta (79%) casos apresentavam lesão à esquerda e 8 (21%) à direita. Malformações estruturais associadas foram observadas em 21 (55%) casos, dos quais 12 fetos apresentaram cariótipo normal, enquanto 9 exibiram anomalias cromossômicas. Hérnia diafragmática isolada foi identificada em 17 (457%) casos. A taxa de mortalidade geral foi de 92%. A taxa de óbito fetal, neomorto precoce, neomorto tardio e sobrevivente após 28 dias de vida foram respectivamente: (i) para o grupo com malformação estrutural associada e cariótipo normal, de 42%, 50%, 0% e 8%; (ii) para os casos com cromossomopatia, de 56%, 44%, 0% e 0%; (iii) para os casos com lesões isoladas de 0%, 76%, 12% e 12%. Na hérnia diafragmática congênita isolada, a mortalidade neonatal foi de 88%. CONCLUSÃO: Em nosso serviço, a mortalidade perinatal nos casos de hérnia diafragmática diagnosticada durante o pré-natal é muito alta. Óbitos neonatais precoces estão associados com presença de outros defeitos estruturais ou anomalias cromossômicas. Nos casos de HDC isolada, a mortalidade está relacionada à presença de fígado herniado, lado direito da lesão e desvio grave de mediastino

Cirurgia fetal no contexto atual

A cirurgia fetal é, hoje, uma realidade em grandes centros especializados na área da medicina fetal. Surgiu por volta da década de 1960, inicialmente atrelada à necessidade de melhor conhecer e entender as patologias fetais, e teve desenvolvimento exponencial impulsionado pelo aprimoramento das técnicas diagnósticas pré-natais. Foi aos poucos se consolidando e tornando-se o tratamento de escolha para algumas patologias específicas, mudando definitivamente o curso dessas doenças. Nesse estudo, encontra-se um breve histórico das cirurgias fetais mais comumente realizadas em todo o mundo, como elas surgiram e como foram evoluindo com o passar do tempo, os principais estudos que as validaram e a técnica cirúrgica mais amplamente utilizada em cada caso. Entre as principais cirurgias, são citadas a fotocoagulação a laser de anastomoses placentárias na síndrome de transfusão feto-fetal, a correção intrauterina a céu aberto da mielomeningocele fetal e a oclusão endotraqueal fetal por balão nos casos de hérnia diafragmática congênita. Também são abordados cirurgias e procedimentos cujos benefícios são menos evidentes e os resultados ainda um tanto controversos, como as intervenções urinárias nos casos de obstrução ao trato urinário inferior, procedimentos cardíacos em casos de estenose aórtica crítica, derivações tóracoamnióticas para tratamento de derrames pleurais compressivos, além de ressecções intrauterinas de teratomas sacrococcígeos e de massas pulmonares. Também é feita uma avaliação a respeito do futuro da cirurgia fetal. Fetal surgery is now a reality in large centers that specialize in the field of fetal medicine. Fetal surgery emerged in the 1960s, primarily from the need to better identify and understand fetal pathologies, and its exponential development was driven by improvements in prenatal diagnostic techniques. Fetal surgery gradually became the main treatment for specific fetal pathologies, changing the course of these diseases. This study summarizes the history of the fetal surgeries that are most commonly performed worldwide, how they started and how they evolved over time, the main validation trials and the most widely used surgical technique in each case. The main surgeries include laser photocoagulation of placental anastomoses in twin-to-twin transfusion syndrome, in utero repair of fetal myelomeningocele and fetal endotracheal occlusion in cases of congenital diaphragmatic hernia. Other surgeries and procedures, whose benefits are less clear and whose results are still somewhat controversial, such as urinary interventions in cases of lower urinary tract obstruction, cardiac procedures in cases of critical aortic stenosis, thoracoamniotic shunts for the treatment of massive pleural effusions and intrauterine resection of sacrococcygeal teratomas and pulmonary masses, are also cited. The future of fetal surgery is also assessed

Diagnóstico Pré-Natal de Fenda Labial e Palatina: Experiência de 40 Casos Prenatal Diagnosis of Lip and Palate Cleft: Experience of 40 Cases

Objetivos: avaliar casos de fenda facial fetal quanto ao tipo de lesão, associação com outras malformações e aneuploidias. Métodos: as fendas faciais foram estudadas quanto a idade materna e antecedentes, idade gestacional no diagnóstico, lado da lesão, tipo de lesão, presença de malformações associadas e/ou aneuploidias, mortalidade e seguimento pós-natal. Resultados: em 40 fetos com fenda, a lesão era labial pura em 18 casos (45%), labiopalatina em 19 (47,5%) e palatina em 3 (7,5%). Em 10 casos a fenda era isolada (25%), todas unilaterais. No grupo de malformações associadas, a aneuploidia esteve presente em 10/30 (33,3%). A lesão labiopalatina predominou neste grupo (18/30 - 60%), seguida por fenda bilateral (8/30 - 26,7%) e mediana (10/30 - 33,3%). Conclusões: as fendas faciais constituíram excelente marcador para malformações associadas e aneuploidias fetais. Casos de fendas faciais devem ser encaminhados para centros especializados para que se realizem adequados exames ultra-sonográfico e genético tecendo em seguida a conduta. O caráter isolado da fenda facial esteve associado a excelente prognóstico.<br>Purpose: to evaluate fetuses with facial cleft as to type of lesion, associated malformations and aneuploidies. Method: the following parameters were evaluated: maternal age and previous history, gestational age at diagnosis, lesion side, type of lesion, presence of associated malformations and aneuploidies, mortality rate and postnatal follow-up. Results: forty fetuses had facial cleft, 18 (45%) cases had cleft lip, 19 (47.5%) had cleft lip and palate, and 3 (7.5%) cases presented with cleft palate. Isolated facial cleft was observed in 10 fetuses (25%), all of them unilaterally located. Aneuploidies were identified in 10/30 (33.33%) of the patients with associated malformations. Cleft lip and palate was more often seen in this group (18/30 - 60%), followed by bilateral lesion (8/30 - 26.7%) and median cleft (10/30 - 33.3%). Conclusion: facial clefts are considered excellent signs for the presence of associated malformations and fetal aneuploidies. Fetuses with facial cleft must be referred to specialized centers in order to have specialized ultrasound and genetic analysis which can provide the best prenatal counseling for these cases. Isolated facial cleft was associated with very good prognosis

Model-Predicted Performance of Second-Trimester Down Syndrome Screening With Sonographic Prenasal Thickness

Objective. The purpose of this study was to estimate the Down syndrome detection and false-positive rates for second-trimester sonographic prenasal thickness (PT) measurement alone and in combination with other markers. Methods. Multivariate log Gaussian modeling was performed using numerical integration. Parameters for the PT distribution, in multiples of the normal gestation-specific median (MoM), were derived from 105 Down syndrome and 1385 unaffected pregnancies scanned at 14 to 27 weeks. The data included a new series of 25 cases and 535 controls combined with 4 previously published series. The means were estimated by the median and the SDs by the 10th to 90th range divided by 2.563. Parameters for other markers were obtained from the literature. Results. A log Gaussian model fitted the distribution of PT values well in Down syndrome and unaffected pregnancies. The distribution parameters were as follows: Down syndrome, mean, 1.334 MoM; log(10) SD, 0.0772; unaffected pregnancies, 0.995 and 0.0752, respectively. The model-predicted detection rates for 1%, 3%, and 5% false-positive rates for PT alone were 35%, 51%, and 60%, respectively. The addition of PT to a 4 serum marker protocol increased detection by 14% to 18% compared with serum alone. The simultaneous sonographic measurement of PT and nasal bone length increased detection by 19% to 26%, and with a third sonographic marker, nuchal skin fold, performance was comparable with first-trimester protocols. Conclusions. Second-trimester screening with sonographic PT and serum markers is predicted to have a high detection rate, and further sonographic markers could perform comparably with first-trimester screening protocols.CAPES Coordenação de Aperfeiçoamento de Pessoal de Nível Superio