首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 46 毫秒
1.
The developmental process of neurulation involves a series of coordinated morphological events, which result in conversion of the flat neural plate into the neural tube, the primordium of the entire central nervous system (CNS). Failure of neurulation results in neural tube defects (NTDs), severe abnormalities of the CNS, which are among the commonest of congenital malformations in humans. In order to gain insight into the embryological basis of NTDs, such as spina bifida and anencephaly, it is necessary to understand the morphogenetic processes and molecular mechanisms underlying neural tube closure. The mouse is the most extensively studied mammalian experimental model for studies of neurulation, while considerable insight into underlying developmental mechanisms has also arisen from studies in other model systems, particularly birds and amphibians. We describe the process of neural tube formation, discuss the cellular mechanisms involved and highlight recent findings that provide links between molecular signaling pathways and morphogenetic tissue movements. Copyright © 2009 John Wiley & Sons, Ltd.  相似文献   

2.
土壤性质在出生缺陷环境风险中的指示作用   总被引:2,自引:0,他引:2  
为研究土壤性质在出生缺陷环境风险中的指示作用,考虑了区域人口分布和疾病空间结构,使用Bayesian方法,对山西省和顺县连续4年的神经管畸形发生的数据进行了处理,并使用非参数统计的方法,结合土壤环境过程机理,对土壤的理化性质和出生缺陷的环境风险做了系统分析. 结果表明:土壤的机械组成,阳离子交换量(CEC),pH,有机质含量及碳酸钙含量都与神经管畸形发生率显著相关. 土壤砂粒含量高的地区,神经管畸形发生的风险会显著增加;土壤粘粒含量高的地区,神经管畸形发生的风险会显著降低. 土壤阳离子交换量高的地区,神经管畸形发生的风险会显著降低. 在偏碱性土壤且pH较高的地区,神经管畸形发生的风险会显著降低.在有利于土壤提供有效形态重金属及稀土元素的环境条件下,神经管畸形发生率会显著提高.在影响神经管畸形发生的环境因素中,土壤介质中各形态元素的有效含量比其总量具有更强的指示作用.   相似文献   

3.
The incidence of neural tube defects (NTDs) has declined in recent decades, however myelomeningocele and encephalocele still represent one of the commoner prenatally diagnosed congenital malformations. Improved perinatal and post natal care mean that the mortality associated with these conditions has also fallen. Advances in the multidisciplinary management of children with myelomeningocele have led to significant improvements in functional outcome for many with this condition. However, there remains a substantial population of patients born with NTDs whose life expectancy is substantially reduced and who suffer significant cognitive and physical disability remaining wholly or partially dependant on the care of others into adult life. This article aims to outline the contemporary early management of these conditions and examine the prospects for functional outcome where possible, attempting to show how early anatomical features of these conditions can help predict where, along the wide spectrum of outcome, a given individual may lie. Copyright © 2009 John Wiley & Sons, Ltd.  相似文献   

4.
Forty-two open neural tube defects (NTDs) were identified in our series of 7440 amniocenteses tested between 11 and 15 weeks of gestation. Using a cut-off of ≥2.0 MOM, the detection rate for open NTDs was 95 per cent; 100 per cent each for anencephaly and spina bifida; and 78 per cent for encephalocele. Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs. Thirty-four (81 per cent) of these NTDs were tested between 13 and 15 weeks and 8 (19 per cent) before 13 weeks. There were 0.6 per cent false positives by AFP (excluding serious abnormalities and fetal death) and 0.1 per cent after AChE. The likelihood of an open NTD after an elevated AFP (≥2.0 MOM) was 24 and 77 per cent for any serious abnormality. These results, when combined with an earlier study, indicate that amniotic fluid AFP appears to be as sensitive a test for open NTDs between 13 and 15 weeks as between 16 and 20 weeks. Additional experience is necessary to determine this before 13 weeks.  相似文献   

5.
Using information derived from the voluntary system of notification of congenital malformations in England and Wales, the birth prevalence of anencephaly and spina bifida was estimated to have declined by 80 per cent from 31.5 to 6.2 per 10 000 between 1964–1972 and 1985. Over the same period, notified terminations of pregnancy with a suspected fetal central nervous system abnormality increased from less than 1 per cent to 56 per cent of neural tube defect births and central nervous system terminations combined, accounting for 31 per cent of the decline in births. Routinely collected national statistics provide a method for monitoring the impact of screening for open neural tube defects. However because they are incomplete and lack detail an alternative method of monitoring is needed. This paper includes an outline of such a method, together with the results of a pilot study designed to assess the feasibility of monitoring screening in the Oxford Region.  相似文献   

6.
Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.  相似文献   

7.
No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.  相似文献   

8.
As part of the Medical Research Council randomized trial of vitamin supplementation in the prevention of neural tube defects (NTDs), maternal serum alpha-fetoprotein (AFP) was available for 19 NTD pregnancies. Each of these was matched with four unaffected controls, by maternal age, participating centre, and duration of sample storage. The samples came from women whose gestational age ranged from 6 to 14 completed weeks. The median AFP level in the affected pregnancies was 1·2 multiples of the median value in unaffected pregnancies of the same gestational age (95 per cent confidence interval (CI) 0·83–1·59). This confirmed the view that serum AFP measurement is of no practical value in the detection of NTDs in the first trimester of pregnancy. The study also showed that folic acid supplementation, used as a method of preventing NTDs, had no effect on the concentrations of maternal serum AFP up to 14 weeks of pregnancy.  相似文献   

9.
The aim of this study was to determine whether identification of glial cells in amniotic fluid samples could form a useful supplementary test in the antenatal diagnosis of neural tube defects (NTDs). In a 5-year study, 1452 samples of middle trimester amniotic fluid were examined blind to the results of other antenatal diagnostic tests and to the outcome of pregnancy. Reasons for amniocentesis included raised serum alpha-fetoprotein (329), previous NTD (73), and a family history of NTDs (71). Duplicate cytospin preparations were stained with Giemsa and an antibody to glial fibrillary acidic protein (GFAP), and on this basis a prediction of fetal NTD status was made which was not communicated to clinicians. Subsequent management of pregnancies was influenced only by the results of routine antenatal testing for NTDs. Twenty cases of NTDs occurred among the 1406 cases in which the outcome was subsequently known. Of these 20 cases, only five (four anencephalic, one spina bifida) were correctly predicted by immunofluorescent identification of GFAP-positive cells in the amniotic fluid. The remaining 15 cases (two anencephalic, 13 spina bifida) were not so identified. In a further 18 cases, apparently GFAP-positive cells were identified in the absence of NTDs. We conclude that GFAP immunofluorescence examination of routine amniocentesis samples of amniotic fluid is not a useful predictive test for NTDs.  相似文献   

10.
The sonographic diagnosis of fetal neural tube defects (NTDs) has been enhanced by the recognition of associated brain and skull anomalies. Previous reports have found these anomalies to be accurate in predicting spina bifida after 16 weeks' gestation, and an inverse correlation was suggested between the presence of these sonographic markers and gestational age. Therefore, we assumed that early second-trimester sonography would be at least as accurate as that performed after 16 weeks' gestation. To examine this hypothesis, we looked for the presence of these cranial sonographic markers suggestive of open NTDs in 8011 low-risk cases, using transvaginal sonography (TVS), between the 12th and 17th week of gestation (menstrual age). Fetal NTDs were identified in ten cases (l.25%o). The NTDs were cervico-cranial in three, lumbo-sacral in six, and thoracal in one of the ten cases. None of the seven cases examined was dyskaryotic. Cerebellar dysmorphism, ‘banana’ sign, cerebellar absence, and hypoplasia were detected in all the low NTDs, usually before the detection of the spinal lesion. All the sonographically diagnosed malformations were confirmed by post-abortal examination except in one case, where the patient decided to continue the pregnancy and refused follow-up. We therefore conclude that transvaginal sonographic examination of the fetal skull before the 17th week of gestation is an accurate method for the detection of low NTDs.  相似文献   

11.
The 2872 second trimester amniocenteses followed by amniotic alphafetoprotein (AFP) estimations carried out in South Wales between 1973 and 1981 on women known to be at increased risk for neural tube defect (NTD) and those who had a raised serum AFP level in an NTD screening programme led to the identification of 78 pregnancies of a fetus with anen-cephalus, 61 with ‘open’ spina bifida, 8 with gastroschisis, 3 with exomphalos, 2 with encephalo-cele and 6 with chromosome abnormality. Pregnancies of fetuses having 4 potentially identifiable NTDs were missed because of an equivocal AFP level and there were two false positive results leading to the termination of one normal fetus. It is emphasized that both the latter problems of one normal fetus. It is emphasized that both the latter problems would not have occurred had gel-electrophoresis for isoenzymes of acetyl cholinesterase been available. Follow-up of pregnancies showed that 7 children with ‘closed’ NTD and 3 with congenital hydrocephalus were born. The anencephalics and the ‘open’ spina bifidas had a more florid lesion than is usual at term. Nearly all the spina bifidas were associated with hydrocephalus, often severe and with an obvious Arnold-Chiari malformation. All but 13 had leg or back deformation or malformations in other systems, mostly in the renal tract.  相似文献   

12.
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996–1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ‘isolated’ when only a cardiac malformation was present and ‘associated’ when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20–24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   

13.
Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   

14.
Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early.  相似文献   

15.
Intrauterine fetal death occurred in four women who were ‘screen-positive’ in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore, we evaluated all ‘screen-positive’ women in whom both of these markers were ⩾ 2.0 multiples of the median. The cases fulfilling these criteria totalled 11, and only one of them had no complications. High concentrations of both MSAFP and MShCG in a number of these cases might have been caused by an increased placental volume, which, in turn, might have been induced by decreased perfusion of the placenta. We conclude that screening programmes wrongly determine a high risk of fetal NTD or DS if the concentrations of both these parameters are very high. Invasive diagnostic procedures should be avoided in these cases, particularly in view of the increased risk of an adverse pregnancy outcome.  相似文献   

16.
Folic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.5 per cent). Our results suggest that folic acid supplementation might be an effective method of primary prevention of neural tube defects.  相似文献   

17.
In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.  相似文献   

18.
The role that genetic and environmental factors play in triggering neural tube defects in the mouse mutant curly-tail (ct) were investigated by transplanting curly-tail blastocysts into the uterus of either curly-tail females or females of an unrelated A strain with a low natural incidence of abnormalities of the neural tube. The percentages of fetuses with neural tube defects were found to be similar in both groups. These results show that in curly-tail mice exencephaly and spina bifida are manifested independently of the maternal environment.  相似文献   

19.
Fetoscopic endotracheal occlusion (FETO) is a prenatal treatment that may increase survival in severe congenital diaphragmatic hernia (CDH). In the USA, FETO is offered for isolated severe left-sided CDH in the context of an FDA-approved feasibility study. FETO in non-isolated cases of severe CDH is only performed with a compassionate use exemption from US regulatory bodies. Anomalies frequently associated with CDH include congenital cystic lesions of the lung and cardiac defects. We describe two cases of non-isolated severe left-sided CDH that underwent prenatal FETO, survived after birth and underwent postnatal surgical repair. The potential benefit of FETO in this setting is discussed. © 2017 John Wiley & Sons, Ltd.  相似文献   

20.
Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12 , 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号