Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding limb reduction defects (LRDs). The mean time of detection of LRDs was 26 weeks of pregnancy (range 16–32 weeks). The sensitivity of prenatal diagnosis of LRDs by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiply malformed children with LRDs, 4·0 and 18·2 per cent, respectively. For all cases of LRDs, the percentage of prenatal detection was 11·5. Termination of pregnancy was performed in 6·7 per cent of the cases.     

Transverse limb reduction defects after chorion villus sampling: A retrospective Cohort study

A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.     

Amniotic fluid acetylcholinesterase in the prenatal diagnosis of open neural tube defects and abdominal wall defects: A comparison of gel electrophoresis and a monoclonal antibody immunoassay

Stored amniotic fluid samples collected in Oxford and East Birmingham as part of the Collaborative Acetylcholinesterase Study were assayed for the presence of acetylcholinesterase (AChE) using a monoclonal antibody (4F19) enzyme antigen immunoassay. These results were compared with the results of a gel AChE which had been performed earlier. A total of 5689 samples from singleton pregnancies were analysed (including 36 with anencephaly, 77 with open spina bifida and 17 with anterior abdominal wall defects). The gel test yielded detection rates of 97% for anencephaly, 99% for open spina bifida and 94% for abdominal wall defects; the false positive rate (excluding pregnancies associated with serious abnormalities, miscarriages and intrauterine deaths) was 0·24%. The monoclonal test yielded similar results; using appropriate cut-off values to allow for differences in acetylcholinesterase levels in blood stained and clear samples, a similar false-positive rate of 0·22% was associated with detection rates of 97%, 95 % and 71 % respectively for the three types of defect. Although the detection rates and the false positive rate were slightly higher for the gel test, a result that might be explained by a decrease in AChE activity caused by storage of the samples, the monoclonal test has the advantages of requiring less interpretative expertise, it can be performed on a larger number of samples a day and it is not affected by contamination with fetal calf serum.     

Amniocentesis carried out for neural tube indications in South Wales 1973–1981: Outcome of pregnancies and findings in the malformed abortuses

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.     

基于电容成像检测技术的带防腐层金属结构缺陷检测

目的同时检测防腐层下金属结构表面缺陷和防腐层缺陷。方法应用电容成像检测技术同时检测防腐层下金属结构表面缺陷和防腐层缺陷,理论分析防腐层下金属表面减薄缺陷、防腐层下金属表面坑状缺陷和防腐层缺陷对电场线的扰动变化规律,仿真分析这三种缺陷对电势线的扰动变化规律,提出电容成像检测技术用于检测防腐层下金属结构表面缺陷和防腐层缺陷的可行性,并搭建电容成像检测系统,利用检测系统检测2 mm和4 mm防腐层下金属表面减薄1 mm和2 mm缺陷、金属表面坑状缺陷、2 mm防腐层下金属结构(防腐层含有通孔缺陷)。结果理论分析和仿真分析显示,电容成像检测技术具有检测防腐层下金属结构表面缺陷和防腐层缺陷的可行性。试验结果表明,电容成像系统能检测2 mm和4 mm防腐层下金属表面减薄1 mm和2 mm缺陷、金属表面坑状缺陷、2 mm防腐层下金属结构(防腐层含有通孔缺陷)。除此之外,在防腐层下金属表面缺陷处的检测结果值呈现上升的趋势,在防腐层缺陷处的检测结果呈现下降的趋势,据此规律可以区分防腐层下金属表面缺陷和防腐层缺陷。结论电容成像检测技术能检测防腐层下金属结构表面减薄缺陷和坑状缺陷,还能同时检测防腐层本身存在的缺陷。根据检测在防腐层下金属结构表面缺陷和防腐层缺陷所呈现的不同结果,可用于区分这两类缺陷,有利于为油气储运设施缺陷维修制定合理的方案。     

The impact of maternal serum alpha fetoprotein screening on open neural tube defect births in North-East Scotland

Over the three years period 1980–1982, 18 256 pregnancies in the Grampian Region of N-E Scotland including the islands of Orkney and Shetland were screened for raised levels of maternal serum alpha fetoprotein (MSAFP) in the second trimester. Thirty six cases of fetal open neural tube defect in singletons were detected (18 anencephaly and 18 spina bifida). Four additional cases of open spina bifida were associated with normal MSAFP levels although two of these were detected by amniotic fluid AFP measurement when amniocentesis was carried out because of previous NTD history. A further three cases of open spina bifida and two of anencephaly occurred in unscreened pregnancies. The MSAFP screening programme alone was thus instrumental in reducing the birth incidence of open neural tube defects by 36 out of 45 cases (80 per cent) in singletons.     

塑封电子元器件温度失效机理研究

应用非破坏性检测技术和破坏性显微分析技术对塑封电子元器件在温度循环试验中发生的失效进行了分析,通过研究缺陷发展的过程并结合现有检测标准要求,提出了对器件设计改进和完善现有检测标准的建议。     

Prenatal sonographic diagnosis of diastematomyelia in a diabetic woman

Diastematomyelia is a structural anomaly which concerns primarily the spine and secondarily the nervous structures contained in it. A case of early prenatal diagnosis (20th week) by ultrasound of diastematomyelia with associated diplomyelia in a diabetic woman is reported. Radiological and pathological examination of the fetus after therapeutic abortion confirmed the diagnosis.     

A prospective study of amniotic fluid cholinesterases: Comparison of quantitative and qualitative methods for the detection of open neural tube defects

The value of quantitative and qualitative methods of cholinesterase (ChE) analysis in the detection of open neural tube defect (NTD) has been assessed in a prospective survey of 1495 mid-trimester amniotic fluids. Using a quantitative method the mean ChE values were much lower in fluids from pregnancies of normal outcome but it was not possible to discriminate these fluids completely from those associated with NTD pregnancies. particularly when the specimens were contaminated with blood. Similarly, measurement of acetylcholinesterase (AChE) activity alone by three different methods also failed to eliminate the overlap between the two groups. In contrast, polyacrylamide gel electrophoresis revealed only a single band of ChE activity in 1408 out of 1410 fluids from pregnancies with a normal outcome whilst amniotic fluids from all 60 cases of open NTD. 6 out of 7 cases of exomphalos and 3 out of 4 cases of intra-uterine death gave the characteristic second faster-running AChE band. A qualitative gel method which requires the same amount of ChE activity to be loaded from each amniotic fluid is an effective method for pre-natal diagnosis of NTDs.     

论我国环境法公众参与制度的缺陷及其完善

论述我国环境法的公众参与制度在许多方面存在亟待解决的问题和该制度存在的缺陷以及完善该制度的措施。     

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.     

Neural tube defects in trisomy 18

Central nervous system anomalies in trisomy 18 are usually confined to structural abnormalities of brain development. Despite the recognized association of neural tube defects and trisomy 18, primary (true) anencephaly is uncommon in the classical trisomy 18 phenotype. A case of anencephaly with trisomy 18, diagnosed prenatally, is presented with a review of the literature of this association.     

Four years' experience of maternal alpha-fetoprotein screening and its effect on the pattern of antenatal care

Estimation of alpha-fetoprotein (A.F.P.) in maternal serum was used as a screening method for the detection of fetal neural tube defect (N.T.D.) in 7315 women over a four year period. Of these, 5668 pregnancies were tested between 15 and 21 weeks. Action was advised in 129 patients (2·3 per cent). In 74 patients, the only action required was reviewing the notes, including the report of any ultrasound examination, and repeating the blood A.F.P. Detailed ultrasound including scanning the fetal spine was requested in 47 patients and amniocentesis was advised in 19 of these (0·33 per cent). In practice the incidence of amniocentesis was 0·28 per cent as three patients declined our advice. The programme gave detection rates between 15 and 21 weeks of 100 per cent and 75 per cent respectively for anencephaly and open spina bifida. A high fetal mortality was associated with persistently elevated blood A.F.P. levels whether amniocentesis was performed or not.     

Catecholamine metabolites in amniotic fluid from fetuses with neural tube defects

Catecholamine metabolites were analysed in amniotic fluid from fetuses with neural tube defects and controls. HMPG (4-hydroxy-3-methoxyphenyl-glycol) assumed to originate mainly from the central nervous system and VMA (4-hydroxy-3-methoxymandelic acid) formed in the peripheral nervous system were determined by gas chromatography-mass spectrometry. The HMPG/VMA ratio was increased (more than 2 SD) compared with controls in ten out of fifteen cases of neural tube defects.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

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.     

基于FAD的铝合金车体焊接缺陷安全性评价方法研究

目的确保高速列车运行安全,采用先进的方法和理论对焊接缺陷进行评定显得非常重要。方法采用断裂力学和有限元相结合的方法,建立车体全比例有限元模型。采用热弹塑性法对焊接残余应力进行有限元数值仿真。基于标准BS 7910提供的焊接缺陷评价方法,对焊接缺陷进行安全性评定。结果对车体带焊缝的有限元模型,依据BS EN12663标准施加车体所承受的载荷,获取焊缝关注点的应力转化所得到一次应力。根据关注点信息建立所在焊缝处的接头模型进行热弹塑性仿真模拟,从而获取该关注点残余应力数值及分布转化所得到二次应力。将焊接缺陷进行裂纹当量化,从而计算得到载荷比与应力强度因子比值,结合许用FAD曲线,对高速列车铝合金车体上焊缝关注点进行安全性评价。结论该方法对车体这种大型复杂焊接结构的安全性进行评价是可行的,并对焊接缺陷是否合于使用提出质量控制的建议。