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Jan A. Deprest Alan W. Flake Eduard Gratacos Yves Ville Kurt Hecher Kypros Nicolaides Mark P. Johnson François I. Luks N. Scott Adzick Michael R. Harrison 《黑龙江环境通报》2010,30(7):653-667
Fetal diagnosis prompts the question for fetal therapy in highly selected cases. Some conditions are suitable for in utero surgical intervention. This paper reviews historically important steps in the development of fetal surgery. The first invasive fetal intervention in 1963 was an intra-uterine blood transfusion. It took another 20 years to understand the pathophysiology of other candidate fetal conditions and to develop safe anaesthetic and surgical techniques before the team at the University of California at San Francisco performed its first urinary diversion through hysterotomy. This procedure would be abandoned as renal and pulmonary function could be just as effectively salvaged by ultrasound-guided insertion of a bladder shunt. Fetoscopy is another method for direct access to the feto-placental unit. It was historically used for fetal visualisation to guide biopsies or for vascular access but was also abandoned following the introduction of high-resolution ultrasound. Miniaturisation revived fetoscopy in the 1990s, since when it has been successfully used to operate on the placenta and umbilical cord. Today, it is also used in fetuses with congenital diaphragmatic hernia (CDH), in whom lung growth is triggered by percutaneous tracheal occlusion. It can also be used to diagnose and treat urinary obstruction. Many fetal interventions remain investigational but for a number of conditions randomised trials have established the role of in utero surgery, making fetal surgery a clinical reality in a number of fetal therapy programmes. The safety of fetal surgery is such that even non-lethal conditions, such as myelomeningocoele repair, are at this moment considered a potential indication. This, as well as fetal intervention for CDH, is currently being investigated in randomised trials. Copyright © 2010 John Wiley & Sons, Ltd. 相似文献
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Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy of women with an affected child. Controversy exists on the best intervention to minimise the risk of ICH. Most centres have abandoned treatment with serial fetal blood sampling (FBS) and platelet transfusions, because of a high rate of complications and the availability of quite effective non-invasive alternatives. In pregnancies with FNAIT and a previous affected child without ICH, weekly intravenous administration of immunoglobulins to the mother appears close to 100% effective to prevent fetal or neonatal ICH. Some centres add prednisone; this combination leads to slightly higher platelet counts at birth. In pregnant women with a previous child with ICH, the recurrence risk seems particularly high, and more aggressive maternal medical treatment is recommended, starting earlier with immunoglobulins. Whether a higher intravenous immunoglobulin dose or the addition of prednisone is really necessary is unclear. What does seem to be clear is that the use of FBS should be minimised, possibly even abandoned completely. Copyright © 2011 John Wiley & Sons, Ltd. 相似文献
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Jocelyne de Laveaucoupet Fabio Roffi François Audibert Françoise Guis Catherine Lacroix Nathalie Villeneuve Pierre Landrieu Philippe Labrune 《黑龙江环境通报》2005,25(4):307-310
We report two cases in the same family of progressive neuronal degeneration of childhood—Alpers syndrome—with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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Acardiac anomaly is a rare condition affecting monochorionic multiple pregnancies. We review this condition with emphasis on its prenatal diagnostic features and treatment options. Due to the parasitic hemodynamic dependence of the acardiac twin on the pump twin, it is important to monitor the pump twin for signs of decompensation and, if indicated, intervene by interrupting vascular supply to the acardiac twin. The goal of treatment is to maximize the pump-twin's chance of survival. To assist with the decision of when to treat, we suggest a new classification system based on prognostic factors, specifically the size and growth of the acardiac twin and the cardiovascular condition of the pump twin. When the acardiac twin is small and no signs of cardiovascular impairment in the pump twin are present, we suggest serial ultrasound surveillance to detect any worsening of the condition. In cases with a large acardiac twin or rapid growth of the acardiac mass, we recommend prompt intervention. Once treatment is indicated, the intrafetal approach to interrupt the vascular supply to the acardiac twin appears to be superior to cord occlusion techniques as it is simpler, safer and more effective. The first line of treatment, if available, should be ultrasound-guided laser coagulation or radiofrequency ablation of the intrafetal vessels. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献