Association between prenatal sonographic findings and post-natal outcomes in 30 cases of isolated spina bifida aperta

This study presents 30 cases of fetal isolated spina bifida aperta (SBA) to identify prenatal ultrasound findings that could predict the prognosis. Comparisons between surviving patients who had normal (group 1) and abnormal (group 2) post-natal neurological outcomes were made for three different prenatal signs, that is, site of vertebral lesion, presence and degree of ventriculomegaly and presence of talipes. The site of the lesion was the most significant outcome predictor, as high spinal dysraphisms were observed in 2 patients (2/7–28.6%) in group 1 and in 15 patients (15/19–79.0%) in group 2 (p = 0.03). The presence of fetal ventriculomegaly was associated with impaired post-natal neurological development, as it occurred in 4 patients (4/7–57.1%) in group 1 and in 18 patients (18/19–94.7%) in group 2 (p = 0.04). The presence of talipes did not significantly differ between the two groups. Patients with abnormal intellectual outcome (8/26–30.8%) had significantly greater (p = 0.018) lateral ventricle/hemisphere ratios (mean = 0.74, standard deviation = 0.13) than those with normal intellectual development (mean = 0.54, standard deviation = 0.18). Mean post-natal follow-up was at 23 months (standard deviation = 15 months). Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission

A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.     

沿海地区台风灾害系统脆弱性过程诊断与评估——以福建省为例

基于自然灾害系统理论,分析了导致和影响台风灾害系统脆弱性过程的主要因素,并提出了脆弱性的诊断思路。通过分析,建立了台风灾害发生过程和灾害发生以后的脆弱性评估指标体系和评估模型,构建了台风灾害系统脆弱性综合指数模型,并以福建县域为单元,对福建省台风灾害系统脆弱性过程进行评价。研究表明,福建省台风灾害系统脆弱性呈上升趋势,空间上高值区集中分布在沿海地区,有从东部沿海向西部扩展的趋势。反映台风强度和福建人口、经济地区差异显著,建议应该制定区域综合减灾模式,逐步降低脆弱性,提高防御台风灾害能力。     

关联维数在机械设备故障诊断中的应用研究

研究了混沌与分形的特征参数———关联维数的计算方法和参数的选择。以滚动轴承在正常、外圈故障、滚动体故障、内圈故障4种状态下的信号特征为标准样本,以其运行的实测信号为例,对时域信号进行了频谱分析,并进一步进行了关联维数分析。通过对滚动轴承振动信号的关联维数分析,证明了该轴承在4种不同标准状态下具有明显不同的关联维数特征。因此,按照相关性的大小,就可诊断出实测信号属于外圈故障状态信号。研究结果表明,关联维数分析方法在设备状态监测与故障诊断中,尤其是在非线性系统的故障诊断中显示出其独特的优势,具有较为广阔的应用前景。     

Activity and multiple forms of α-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs

It was shown that activities and isoenzyme patterns of x-L-fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of α-L-fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (α-L-fucosidase deficiency). Tay-Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).     

Prenatal diagnosis of Niemann–Pick diseases types A,B and C

Prenatal diagnosis of Niemann–Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann–Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright © 2002 John Wiley & Sons, Ltd.     

Detection and false-positive rates of maternal serum markers for Down syndrome screening according to maternal age in women over 35 years of age. A study of the agreement of eight dedicated software packages

Maternal serum markers for trisomy 21 screening (MSS) can be assayed in women ≥35 years in an attempt to reduce the need for invasive procedures and thereby avoid their side effects. Our objective was to compare, in women ≥35, eight different software packages dedicated to second trimester MSS, thus providing reliable data for patient counselling. A simulation study was carried out on 189 sera from women with Down syndrome fetuses and 11 962 sera from mothers of unaffected babies. The first step was to estimate the joint distribution of alpha-fetoprotein (AFP) and free beta-human chorionic gonadotrophin (β-hCG). The second step was to calculate trisomy 21 detection and false-positive rates for each software according to maternal age (35–45 years), using the usual 1:250 risk threshold. Agreement between software packages was measured using 2×2 kappa coefficients. Detection rates and false-positive rates increased with maternal age. Depending on the software, 57–71% detection rates were achieved at 35 years with 12–18% false-positive rates. At 45 years, 61–100% detection rates were achieved with 66–95% false-positive rates. Up to 39 years, all softwares were concordant (kappa coefficients >0.75). In the range 35–45 years, false-positive and detection rates increased substantially with maternal age and differences between software packages are observed. Copyright © 2002 John Wiley & Sons, Ltd.     

Ultrasound diagnosis of structural abnormalities in the first trimester

The advances in ultrasound technology have made it possible to identify fetal structural abnormalities and genetic syndromes in the first trimester. First trimester prenatal diagnosis of fetal central nervous system, renal, gastrointestinal, cardiac, and skeletal abnormalities is reviewed. Copyright © 2002 John Wiley & Sons, Ltd.