Prenatal repair of gastroschisis using partial carbon dioxide insufflation fetoscopy: lessons learned.

We report the long-term outcomes of a case of prenatal gastroschisis repair using a fully percutaneous fetoscopic approach with partial carbon dioxide insufflation. Surgery was performed as an experimental procedure before the scheduled elective birth. The fetal intestines were successfully returned to the abdominal cavity without any fetal or maternal complications. Ultrasonography performed 24 hours later revealed bowel peristalsis and no signs of fetal distress. After 48 hours, partial extrusion of the small bowel was observed, and the fetus was delivered. Gastroschisis repair was immediately performed upon delivery using the EXIT-like procedure as per our institutional protocol. The newborn did not require assisted mechanical ventilation, was discharged at 14 days of age and was then exclusively breastfed. At 3-year follow-up, the patient had no associated gastroschisis-related complications. This is the first case of prenatal repair of gastroschisis, which provides baseline knowledge for future researchers on the potential hurdles and management of prenatal repair.

Prenatal repair of gastroschisis using partial carbon dioxide insufflation fetoscopy: lessons learned

ABSTRACT We report the long-term outcomes of a case of prenatal gastroschisis repair using a fully percutaneous fetoscopic approach with partial carbon dioxide insufflation. Surgery was performed as an experimental procedure before the scheduled elective birth. The fetal intestines were successfully returned to the abdominal cavity without any fetal or maternal complications. Ultrasonography performed 24 hours later revealed bowel peristalsis and no signs of fetal distress. After 48 hours, partial extrusion of the small bowel was observed, and the fetus was delivered. Gastroschisis repair was immediately performed upon delivery using the EXIT-like procedure as per our institutional protocol. The newborn did not require assisted mechanical ventilation, was discharged at 14 days of age and was then exclusively breastfed. At 3-year follow-up, the patient had no associated gastroschisis-related complications. This is the first case of prenatal repair of gastroschisis, which provides baseline knowledge for future researchers on the potential hurdles and management of prenatal repair.

Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients / Resultados clínicos históricos de crianças com mielomeningocele com critérios para cirurgia fetal: Um estudo de coorte retrospectivo de pacientes brasileiros

Abstract Objective To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair. Methods Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥1 year of postoperative follow-up andmet the criteria for fetal surgery. The children's data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure. Results Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations. Conclusion Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting.

Resumo Objetivo Analisar os resultados clínicos históricos de crianças commielomeningocele (MMC) com critérios para cirurgia fetal,mas que foram submetidas a cirurgia pós-natal. Métodos Dados de crianças submetidas à correção deMMCpós-natal entre janeiro de 1995 e janeiro de 2015 foram coletados nos prontuários do Ambulatório de Neurocirurgia. Foram incluídas crianças se tivessem ≥ 1 ano de acompanhamento pósoperatório e atendessem os critérios para cirurgia fetal. As informações dessas crianças foram então estratificadas de acordo com se receberam ou não derivação do líquido cefalorraquidiano. O desfecho primário foi a mortalidade e os desfechos secundários foram atrasos educacionais, hospitalização, infecções recorrentes do trato urinário einsuficiência renal. Resultados Durante o período de 20 anos, 231 crianças com MMC foram acompanhadas. Com base nos dados clínicos registrados no momento do nascimento, 165 (71,4%) atendiam critérios para a cirurgia fetal. Dos 165 pacientes, 136 (82,4%) foram submetidos à colocação de derivação do líquido cefalorraquidiano. A taxa de mortalidade foi de 5,1% no grupo com derivação do líquido cefalorraquidiano e 0% no grupo sem risco relativo (RR) 3,28 (intervalo de confiança 95%, IC 95%, 0,19-55,9). Os RRs estatisticamente significativos para resultados adversos no grupo com derivação do líquido cefalorraquidiano foram 1,86 (IC 95%, 1,01-3,44) para infecção do trato urinário, 30 (IC 95%, 1,01-537) para insuficiência renal e 1,77 (IC 95%, 1,09-2,87) para hospitalizações. Conclusão Crianças com MMC com critérios para cirurgia fetal submetidas à colocação de derivação do líquido cefalorraquidiano eram mais propensas a ter infecções recorrentes do trato urinário, desenvolver insuficiência renal e serem hospitalizadas. Como aproximadamente metade dos procedimentos de derivação poderiam ser evitados por cirurgia fetal, há um benefício clínico e um possível benefício financeiro com a implementação dessa tecnologia em nosso meio.

Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients.

OBJECTIVE: To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair. METHODS: Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥ 1 year of postoperative follow-up and met the criteria for fetal surgery. The children's data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure. RESULTS: Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations. CONCLUSION: Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting.

OBJETIVO: Analisar os resultados clínicos históricos de crianças com mielomeningocele (MMC) com critérios para cirurgia fetal, mas que foram submetidas a cirurgia pós-natal. MéTODOS: Dados de crianças submetidas à correção de MMC pós-natal entre janeiro de 1995 e janeiro de 2015 foram coletados nos prontuários do Ambulatório de Neurocirurgia. Foram incluídas crianças se tivessem ≥ 1 ano de acompanhamento pós-operatório e atendessem os critérios para cirurgia fetal. As informações dessas crianças foram então estratificadas de acordo com se receberam ou não derivação do líquido cefalorraquidiano. O desfecho primário foi a mortalidade e os desfechos secundários foram atrasos educacionais, hospitalização, infecções recorrentes do trato urinário e insuficiência renal. RESULTADOS: Durante o período de 20 anos, 231 crianças com MMC foram acompanhadas. Com base nos dados clínicos registrados no momento do nascimento, 165 (71,4%) atendiam critérios para a cirurgia fetal. Dos 165 pacientes, 136 (82,4%) foram submetidos à colocação de derivação do líquido cefalorraquidiano. A taxa de mortalidade foi de 5,1% no grupo com derivação do líquido cefalorraquidiano e 0% no grupo sem risco relativo (RR) 3,28 (intervalo de confiança 95%, IC 95%, 0,19­55,9). Os RRs estatisticamente significativos para resultados adversos no grupo com derivação do líquido cefalorraquidiano foram 1,86 (IC 95%, 1,01­3,44) para infecção do trato urinário, 30 (IC 95%, 1,01­537) para insuficiência renal e 1,77 (IC 95%, 1,09­2,87) para hospitalizações. CONCLUSãO: Crianças com MMC com critérios para cirurgia fetal submetidas à colocação de derivação do líquido cefalorraquidiano eram mais propensas a ter infecções recorrentes do trato urinário, desenvolver insuficiência renal e serem hospitalizadas. Como aproximadamente metade dos procedimentos de derivação poderiam ser evitados por cirurgia fetal, há um benefício clínico e um possível benefício financeiro com a implementação dessa tecnologia em nosso meio.

Congenital High Airway Obstruction Syndrome (CHAOS): Virtual Navigation in the Fetal Airways After Intrauterine Endoscopic Treatment.

BACKGROUND: Congenital high airway obstruction syndrome (CHAOS) involves the partial or complete obstruction of the fetal upper airways, usually caused by atresia or stenosis of the larynx or trachea. The obstruction of bronchial tree leads to lung distension, diaphragmatic eversion, and cardiac dysfunction, which can result in fetal death. CASE: A primigravid 19-year-old was diagnosed with CHAOS at 193 weeks gestation. Virtual navigation using magnetic resonance imaging (MRI) data was used to visualize the fetal airways after intrauterine endoscopic laser decompression. A perforation in the fetal larynx/trachea was identified and the diagnosis was modified to tracheal stenosis. Cesarean delivery occurred at 315 weeks using an ex utero intrapartum treatment (EXIT) procedure. The neonatology team were unable to perform intubation, suggesting a final diagnosis of tracheal atresia. The male newborn weighed 1920 g and died 1 hour later. CONCLUSION: 3D virtual bronchoscopy is a non-invasive approach to visualizing the fetal upper airways and can be used to diagnose and manage CHAOS.

Neoskin development in the fetus with the use of a three-layer graft: an animal model for in utero closure of large skin defects.

OBJECTIVE: To assess the ability of a three-layer graft in the closuse of large fetal skin defects. METHODS: Ovine fetuses underwent a large (4 × 3 cm) full-thickness skin defect over the lumbar region at 105 days' gestation (term = 140 days). A bilaminar artificial skin was placed over a cellulose interface to cover the defect (3-layer graft). The skin was partially reapproximated with a continuous nylon suture. Pregnancy was allowed to continue and the surgical site was submitted to histopathological analysis at different post-operative intervals. RESULTS: Seven fetuses underwent surgery. One maternal/fetal death occurred, and the remaining 6 fetuses were analyzed. Artificial skin adherence to the wound edges was observed in cases that remained in utero for at least 15 days. Neoskin was present beneath the silicone layer of the bilaminar artificial skin. CONCLUSIONS: Our study shows that neoskin can develop in the fetus using a 3-layer graft, including epidermal growth beneath the silicone layer of the bilaminar skin graft. These findings suggest that the fetus is able to reepithelialise even large skin defects. Further experience is necessary to assess the quality of this repair.

O intervalo de tempo entre coleta e processamento do sangue de cordão umbilical influencia na qualidade da amostra? / Does the time between collecting and processing umbilical cord bloodsamples affect the quality of the sample?

Objective: To assess the association between the time from umbilical cord blood collection until processing and the quality of the sample. Methods: Umbilical cord blood samples collected during the third stage of labor were placed in temperature-controlled boxes for the transport of biological material and sent to an umbilical cord blood bank, where the number of nucleated cells, viable cells and CD34+ cells were counted, and samples were additionally tested for contamination at the following time intervals: up to 24 hours, up to 48 hours and up to 72 hours following sampling. Data were analyzed using the multivariate analysis of variance (MANOVA) and compared using McNemar's X2 test. Significance was defined at p < 0.05. Results: Means and medians of the number of nucleated cells, viable cells and CD34+ cells decreased significantly (p < 0.0001) as a function of the increased time between sampling and analysis, the difference between 24 and 48 hours being less than the difference between 24 and 72 hours. A linear correlation was found between the mean number of viable cells and CD34+ cells at the three moments of analysis. Contamination testing was negative in all samples. Conclusion: The increase in time interval from sampling until analysis negatively affected the number of nucleated cells, viable cells and CD34+ cells but was not associated with specimen contamination. A linear correlation was found between decrease in the number of viable cells and CD34+ cells.

Objetivo: Avaliar a associação do intervalo de tempo entre coleta e processamento do sangue de cordão umbilical e a qualidade da amostra. Métodos: As amostras de sangue de cordão umbilical, colhidas no terceiro período do parto, foram acondicionadas em caixas homologadas para transporte de material biológico, com monitoração da temperatura, e enviadas a um banco de sangue de cordão umbilical, onde foram submetidas à contagem do número de células nucleadas, do número de células viáveis, do número de células CD 34+ e pesquisa de contaminação, nos intervalos de tempo de até 24, até 48 e até 72 horas. Os dados foram analisados pelo teste de variância para medidas repetidas MANOVA e comparados por meio do teste do X2 de Mc Nemar, considerando-se nível de significância de 5%. Resultados: As médias e as medianas do número de células nucleadas, número de células viáveis e número de células CD34+ tiveram quedas significativas (p < 0,0001) com o aumento do intervalo de tempo de coleta/processamento, sendo entre 24 e 48 horas menor do que a comparação entre 24 e 72 horas. Constatada correlação linear entre as médias de células viáveis e células CD34+ nos três momentos da análise. A pesquisa de contaminação foi negativa em todas as amostras. Conclusão: O aumento do intervalo de tempo de coleta/processamento influenciou negativamente na contagem de células nucleadas, células viáveis e CD34+ e não esteve associado à contaminação das amostras. Foi constatada correlação linear entre a queda do número de células viáveis e de células CD34+.

Does the time between collecting and processing umbilical cord blood samples affect the quality of the sample?

OBJECTIVE: To assess the association between the time from umbilical cord blood collection until processing and the quality of the sample. METHODS: Umbilical cord blood samples collected during the third stage of labor were placed in temperature-controlled boxes for the transport of biological material and sent to an umbilical cord blood bank, where the number of nucleated cells, viable cells and CD34+ cells were counted, and samples were additionally tested for contamination at the following time intervals: up to 24 hours, up to 48 hours and up to 72 hours following sampling. Data were analyzed using the multivariate analysis of variance (MANOVA) and compared using McNemar's χ2 test. Significance was defined at p < 0.05. RESULTS: Means and medians of the number of nucleated cells, viable cells and CD34+ cells decreased significantly (p < 0.0001) as a function of the increased time between sampling and analysis, the difference between 24 and 48 hours being less than the difference between 24 and 72 hours. A linear correlation was found between the mean number of viable cells and CD34+ cells at the three moments of analysis. Contamination testing was negative in all samples. CONCLUSION: The increase in time interval from sampling until analysis negatively affected the number of nucleated cells, viable cells and CD34+ cells but was not associated with specimen contamination. A linear correlation was found between decrease in the number of viable cells and CD34+ cells.

Modification of the gasless fetoscopy technique for the treatment of large myelomeningocele: a study in sheep / Modificação da técnica de fetoscopia de suspensão para tratamento fetal de grandes meningomieloceles: estudo em ovelhas

Objective: To change the gasless fetoscopy technique in order to reduce the diameter of entry orifices in the myometrium. Methods: Seven pregnant ewes were submitted to fetoscopy for repairing a large skin defect measuring 4.0 x 3.0 cm, created in the fetal lumbar region at the gestational age of 100 days. The defect was repaired through continuous suture of the skin with approximation of borders. Gasless fetoscopy was used for performing the suture with three orifices to allow entry of the trocar into the myometrium. A 5.0-mm optical trocar, and 3.5-mm grasping, dissecting and suturing forceps were used. After surgery, pregnancy was maintained until the animals were euthanized on the 133rd day of gestation, and the fetuses were evaluated. Results: Seven pregnant ewes underwent surgery; the first two cases were characterized as the Pilot Group, in which the endoscopic technique was modified and caliber reduction was possible in two out of three entry orifices in the myometrium. In the five remaining cases (Study Group), the repair was successfully carried out in all the fetuses, and the mean duration of fetoscopy was 98 minutes. There was a case of maternal death attributed to intrauterine infection. Mean intrauterine permanence after surgery was 12 days. Conclusions: The technique was successfully modified, allowing reduction of the uterine orifices necessary to perform the repair of a skin defect in the fetal lumbar region through a new fetoscopy technique. The impact of this modification in repair of myelomeningocele in human fetuses should be studied.

Objetivo: Modificar a técnica de fetoscopia de suspensão para redução do calibre dos orifícios de entrada no miométrio. Métodos: Sete ovelhas grávidas foram submetidas à fetoscopia para correção de um grande defeito de pele medindo 4,0 x 3,0 cm, criado na região lombar fetal com 100 dias de gestação. O defeito era corrigido através de sutura contínua da pele, aproximando-se as suas bordas. Para realizar a sutura, foi realizada a fetoscopia de suspensão, utilizando-se três orifícios para entrada de trocarte no miométrio. O trocarte da ótica era de 5,0 mm e das pinças de apreensão, dissecção e sutura eram de 3,5 mm. Após a cirurgia, a gestação era mantida até o sacrifício, realizado no 133º dia de gestação, quando os fetos eram avaliados. Resultados: Sete ovelhas prenhes foram operadas. Os dois primeiros casos constituíram o Grupo Piloto, no qual a técnica endoscópica foi modificada e a redução do calibre foi possível em dois dos três orifícios de entrada no miométrio. Nos cinco demais casos (Grupo de Estudo) a correção foi realizada com sucesso em todos os fetos e o tempo médio de duração da fetoscopia foi de 98 minutos. Houve um caso de morte materna atribuído à infecção intrauterina. A média de permanência intraútero após a cirurgia foi de 12 dias. Conclusões: A técnica foi modificada com sucesso, permitindo a redução do calibre dos orifícios uterinos necessários para realizar a correção de um defeito de pele na região lombar do feto através de uma nova técnica de fetoscopia. O impacto desta modificação na correção da meningomielocele em fetos humanos deve ser estudado.

Modification of the gasless fetoscopy technique for the treatment of large myelomeningocele: a study in sheep.

OBJECTIVE: To change the gasless fetoscopy technique in order to reduce the diameter of entry orifices in the myometrium. METHODS: Seven pregnant ewes were submitted to fetoscopy for repairing a large skin defect measuring 4.0 × 3.0 cm, created in the fetal lumbar region at the gestational age of 100 days. The defect was repaired through continuous suture of the skin with approximation of borders. Gasless fetoscopy was used for performing the suture with three orifices to allow entry of the trocar into the myometrium. A 5.0-mm optical trocar, and 3.5-mm grasping, dissecting and suturing forceps were used. After surgery, pregnancy was maintained until the animals were euthanized on the 133rd day of gestation, and the fetuses were evaluated. RESULTS: Seven pregnant ewes underwent surgery; the first two cases were characterized as the Pilot Group, in which the endoscopic technique was modified and caliber reduction was possible in two out of three entry orifices in the myometrium. In the five remaining cases (Study Group), the repair was successfully carried out in all the fetuses, and the mean duration of fetoscopy was 98 minutes. There was a case of maternal death attributed to intrauterine infection. Mean intrauterine permanence after surgery was 12 days. CONCLUSIONS: The technique was successfully modified, allowing reduction of the uterine orifices necessary to perform the repair of a skin defect in the fetal lumbar region through a new fetoscopy technique. The impact of this modification in repair of myelomeningocele in human fetuses should be studied.

Mutações do gene codificador da enzima metilenotetraidrofolato redutase e sua associação com a trissomia do cromossomo 21 / Mutations of methylenetetrahydrofolate reductase codifying gene: association with trissomy 21

INTRODUÇÃO: A trissomia do cromossomo 21 é o distúrbio cromossômico mais frequente em recém-nascidos, responsável por grande parcela dos retardamentos mentais moderados. Apesar de tão frequente, os mecanismos celulares e moleculares envolvidos na não-disjunção meiótica são ainda desconhecidos. Dentre as possíveis causas que podem interferir nessa não-disjunção, tem-se especulado a participação da ingesta de ácido fólico e mutações de genes codificadores das enzimas envolvidas no seu metabolismo. Entre essas enzimas está a 5,10­metilenatetraidrofolato redutase (MTHFR), fundamental na metilação do DNA. OBJETIVO: verificar se existe diferença estatisticamente significante na porcentagem de mutação da MTHFR nas posições 677 e 1298 entre mulheres com filhos cromossomicamente normais e nas com filhos portadores da trissomia do cromossomo 21. MATERIAL E MÉTODOS: realizou-se um estudo do tipo caso-controle em 70 mulheres com filhos portadores da trissomia do cromossomo 21 e 88 controles com filhos cromossomicamente normais e sem abortamentos. Estudamos a porcentagem de mutação de ponta C677T e A1298C do gene codificador da MTHFR nesses dois grupos. O risco oferecido par cada variável avaliada foi obtido através de uma estimativa de odds ratio, acompanhada por seu respectivo Intervalo de confiança (IC 95%). Modelos de regressão logística serviram para medir o efeito das variáveis de controle nestes odds ratio. RESULTADOS: A presença de heterozigose conjunta (677 e 1298) foi estatísticamente maior entre as casos (OR de 5,7). CONCLUSÕES: a presença de heterozigose conjunta no gene codificador da MTHFR levou a um maior risco de ocorrência da trissomia do cromossomo 21.

Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21.

OBJECTIVES: To verify whether the frequencies of 5,10-methylenotetrahydrofolate reductase (MTHFR) polymorphisms at positions 677 and 1298 are higher in women with children affected by trisomy 21 than in those with chromosomally normal offspring. METHODS: A case-control study was carried out with 70 women whose children had trisomy 21 and 88 controls whose children were chromosomally normal. The frequencies of polymorphisms of points C677T and A1298C of MTHFR gene coding were studied in these two groups. Odds ratios (OR) for having a child affected by trisomy 21 were estimated for homozygosis, heterozygosis or the absence of the above-mentioned MTHFR polymorphisms. Logistic regression models were used to control for the effect of confounding variables on these odds ratios. RESULTS: The frequency of joint heterozygotic polymorphism (677 and 1298) was significantly higher in women with children affected by trisomy 21 than in those with chromosomally normal offspring (OR: 5.7). CONCLUSIONS: The presence of joint heterozygotic polymorphism in the codifying gene for MTHFR was a risk factor for having a child with trisomy 21.

Laser for the treatment of twin to twin transfusion syndrome

OBJETIVO: Nosso objetivo é relatar a experiência inicial no país com uma nova técnica de tratamento para a síndrome de transfusão feto-fetal (STT), onde se utiliza o raio laser para coagulação dos vasos placentários responsáveis pela transfusão entre gêmeos durante a gravidez. MÉTODOS: Estudo prospectivo de 8 casos com diagnóstico de STT avaliados pelo nosso serviço de janeiro de 2001 a junho de 2005. Introduzindo-se um fetoscópio de 2,0 mm de diâmetro na cavidade uterina, por via percutânea, foram diretamente visualizados os vasos da superfície placentária. Aqueles vasos identificados como responsáveis pela transfusão foram coagulados através do laser. O procedimento combina a ultra-sonografia e a fetoscopia, no que se denomina uma abordagem sono-endoscópica (FETENDO). RESULTADOS: Dentre as oito gestações avaliadas, o procedimento foi realizado em cinco casos (10 fetos). Todos os fetos sobreviveram por um período mínimo de cinco semanas após a cirurgia. Na evolução, oito fetos nasceram vivos e cinco sobreviveram ao período neonatal. No seguimento pós-natal de 18 meses, todos os cinco estão vivos e bem, tendo atualmente uma idade média de 10,6 meses. A sobrevida geral foi de 50%, sendo que em três gestações, pelo menos um feto sobreviveu. CONCLUSÕES: A fetoscopia com laser é atualmente considerada "gold-standard" no tratamento da STT. No entanto, a técnica é sofisticada e depende de treinamento adequado. Nosso serviço é o primeiro do país a oferecer esta técnica cirúrgica e nossos índices de sucesso se comparam aos índices mundiais.

Laser for the treatment of twin to twin transfusion syndrome.

PURPOSE: To report the initial experience in our country with a new technique for twin to twin transfusion syndrome (TTTS) treatment, using laser to coagulate the placental vessels responsible for the twin transfusion during gestation. METHODS: Prospective study of eight cases diagnosed with TTTS evaluated in our service from january 2001 to june 2005. Through percutaneous introduction of a 2,0mm diameter fetoscope in the uterine cavity, placental surface vessels where directly visualized. Those identified as responsible for the transfusion were laser coagulated. The procedure combines ultrasonography and fetoscopy, in a so-called sonoendoscopic technique (FETENDO). RESULTS: Among the eight pregnancies evaluated, five cases were submitted to the procedure (10 fetuses). All fetuses survived for at least five weeks after surgery. A total of eight fetuses were born alive and five survived the neonatal period. In a 18 months follow-up after birth, all five are still alive and well and their mean age is now 10,6 months. The total survival rate was 50% and in three pregnancies, at least one fetus survived. CONCLUSIONS: Laser fetoscopy is actually the "gold-standard" treatment of TTTS. Nevertheless is a sophisticated technique that depends of proper training. Our service is the first in our country to offer this therapeutic technique. Our success rate is comparable with the international literature.

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome]. / Mutações no gene da metilenotetrahidrofolato redutase e síndrome de Down.

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminary study suggested that abnormal folate metabolism and the 677 (C-->T) mutation in the methylene-tetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for DS. Frequency of the MTHFR 677 (C-->T) and 1298 (A-->C) mutations was evaluated in 36 mothers of children with DS and in 200 controls. The results are consistent with the observation that the MTHFR 677 (C-->T) and 1298 (A-->C) mutations are more prevalent among mothers of children with DS than controls. In addition, the most prevalent genotype was the combination of both mutations. The results suggest that mutations in the MTHFR gene are associated with maternal risk for DS

Mutaçöes no gene da metilenotetrahidrofolato redutase e síndrome de Down / Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome

Sindrome de Down (SD) é uma alteraçäo genética e metabólica complexa atribuída à presença de três cópias do cromossomo 21. O cromossomo extra em 93 por cento dos casos é de origem materna e é resultante de uma segregaçäo anormal durante a meiose (näo-disjunçäo). Com exceçäo da idade materna avançada, fatores de risco para a näo-disjunçäo meiótica näo estäo bem estabelecidos. Um estudo preliminar sugeriu que o metabolismo anormal do folato e a mutaçäo 677 (C->T) no gene da metilenotetrahidrofolato redutase (MTHFR) podem ser fatores de risco maternos para a SD. A freqüência das mutaçöes MTHFR 677 (C->T) e 1.298 (A->C) foram avaliadas em 36 mäes de crianças com SD e em 200 indivíduos-controle. Os resultados demonstraram que as mutaçöes 677 (C->T) e 1.298 (A->C) säo mais prevalentes entre mäes de crianças com SD do que nos controles. A heterozigose das duas mutaçöes foi a combinaçäo mais freqüente. O resultado desse estudo inicial sugere que mutaçöes no gene da MTHFR seriam um fator de risco para a SD

Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects -- 10 percent; mean age -- 35.8 years; mean gestational age -- 12 weeks and 2 days; nuchal translucency (NT) thickness -- 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5 percent and 75 percent, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points