Abnormal amniotic fluid levels of CA 125 in second-trimester Down syndrome pregnancies

The aim of this study was to evaluate the concentration of CA 125 in second trimester amniotic fluid from Down syndrome pregnancies. CA 125 was measured in stored amniotic fluid samples from pregnancies of 14–19 weeks' gestation with and without Down syndrome fetuses. CA 125 levels were expressed in multiples of the median (MOM) for normal pregnancies of the same gestational age. Twenty-one pregnancies with Down syndrome fetuses and 63 unaffected controls matched for maternal age, gestational age, and duration of storage were studied. The median MOM values of the affected pregnancies were significantly higher than those of the controls (1·41 MOM versus 0·99 MOM). These findings show that there is an increased concentration of CA 125 in second-trimester amniotic fluid from Down syndrome pregnancies.     

Life-history patterns of two Southern CaliforniaNebalia species (Crustacea: Leptostraca): the failure of form to predict function

Laboratory and field studies onNebalia hessleri andN. daytoni off the toast of San Diego, Southern California, showed that although morphologically similar, the habitats, behavior, and natural history of these two species are surprisingly different. In laboratory experiments, Bach species avoided the other's habitat (sand and mats of macrophyte detritus), and in the field, transplanted individuals failed to survive in the other species' habitat.N. hessleri, which inhabits subtidal mats of macrophyte detritus, survived and reproduced well in the laboratory, was iteroparous, and a large percentage of adults were male. This species occurred at very high densities in the field, and ate essentially everything offered in the laboratory, with a diet in the field consisting largely of plant detritus and carrion. The other species,N. daytoni, differed in nearly every way, it inhabited organically impoverished sands, survived poorly in the laboratory, was apparently semelparous, and a small percentage of the adult population was male.     

Detection of trisomy 21 by quantitative fluorescent–polymerase chain reaction in uncultured amniocytes

Prenatal diagnosis of fetal trisomy 21 is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. Today, trisomy 21 can be rapidly diagnosed within 24 h by molecular analysis of uncultured fetal cells using the semi-quantification of fluorescent PCR products from short tandem repeat (STR) polymorphic markers. The aim of our study was to test a chromosome quantification method on the basis of the analysis of fluorescent PCR products derived from non-polymorphic target genes. Co-amplification of a portion of DSCR1 (Down syndrome Critical Region 1) and the reference gene, CFTR (cystic fibrosis transmembrane regulator) enabled molecular detection of trisomy 21. Our method was successfully tested on a total of 154 amniotic fluids in a blind prospective study. Calculation of the DSCR1/CFTR ratio allowed us to distinguish between 152 normal amniotic fluids (mean ratio 0.99) and 2 amniotic fluids presenting a trisomy 21 status (DSCR1/CFTR ratio of 1.53 and 1.61, respectively). The results obtained by conventional cytogenetic analysis and our quantitative PCR method were concordant in every case. Our gene-based fluorescent PCR approach represents an alternative molecular method for rapid and reliable detection of trisomy 21, which can be helpful in the prenatal diagnosis of women at high risk of fetal trisomy 21. Copyright © 2003 John Wiley & Sons, Ltd.     

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non-progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway—ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested genetic prenatal diagnosis. Using DNA from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular genetic prenatal diagnosis in any form of SCD. Copyright © 2003 John Wiley & Sons, Ltd.     

Tests appropriate for the prenatal diagnosis of ataxia telangiectasia

A fetus ‘at-risk’ for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of ‘at-risk’ amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A-T.     

非线性理论在开采沉陷中的应用

简要介绍了近年来把非线性理论应用于矿山开采沉陷领域的一些研究成果,主要包括两大部分：（１）神经网络理论在开采沉陷中的应用;（２）离散单元法在开采沉陷中的应用     

GIS支持下矿区岩溶陷落柱的综合探测技术

岩溶陷落柱是影响矿山安全生产的重要地质灾害之一,在采掘笔者提出的工程设计之前,预先探测陷落柱的空间位置和形态,可避免经济损失并保证煤矿高效安全生产。为此,论述了一种在地面综合探测陷落柱的技术,即在地理信息系统（Ｇｅｏｇｒａｐｈｉｃ Ｉｎｆｏｒｍ ａｔｉｏｎ Ｓｙｓｔｅｍ , 简称ＧＩＳ）支持下,对遥感图像、地质采矿资料和实地调查资料进行多因素复合分析,圈定陷落柱的可能分布区,进而实施物理勘探,确定陷落柱的具体分布参数。实践表明,这是一种行之有效的技术方法