Evaluation of X,Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.     

镉"加标"沉积物对泥鳅(Misgurnus anguillicaudatus)生物毒性研究

选择泥鳅(Misgurnus anguillicaudaus)作为受试生物,以泥鳅死亡率、血液红细胞数量、红细胞体积、红细胞微核率和核异常率作为测试指标,考察了沉积物中"加标"金属镉(Cd)的毒性状况,探讨了水体沉积物中重金属的生物毒性影响.结果表明:高有机质的粘土粉砂性沉积物能够有效吸附重金属镉;镉加标暴露组泥鳅的死...     

新疆沙尔布尔-萨吾尔山地区区域化探岩屑地球化学异常Ⅲ级检查的试验研究

本文介绍了区域岩屑地球化学异常Ⅲ级检查方法，并从单元素异常、多元素组合异常、岩层元素丰度及背景分布理论、元素点异常概率、特殊样品的地球化学特征等方面对区域化探异常进行综合解释评价，取得了较好效果。     

Alpha-fetoprotein in fetal serum,amniotic fluid,and maternal serum

In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second-trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.     

The causes and natural history of fetal ascites

The purpose of this study was to examine the natural history and differential diagnosis of ultrasound-detected, isolated fetal ascites. Retrospective review of our patient data base, from 1989 to 1993, revealed 18 patients with fetal ascites diagnosed sonographically. Fetuses presenting with generalized hydrops were excluded. One of the 18 fetuses with ascites had a chromosomal abnormality (trisomy 21), four fetuses had intrauterine infections, seven had gastrointestinal processes, two had genitourinary tract abnormalities, and four were labelled as ‘idiopathic’ (all four resulting in normal neonates). Seventeen of 18 fetuses survived; there was one fetal demise secondary to active syphilis. One fetus with parvovirus infection required intrauterine transfusion and did well. Two infants are developmentally retarded, including one with trisomy 21 and one with microcephaly secondary to cytomegalovirus infection. Fourteen of 18 fetuses had documented in-utero resolution of the ascites. Eleven of the 18 were associated with polyhydramnios sometime during fetal life. None of the fetuses developed hydrops. In conclusion, fetal ascites can result from many different aetiologies, including gastrointestinal and genitourinary anomalies. Chromosomal abnormalities and viral aetiologies must also be considered. Fetuses who have isolated ascites can have a good outcome with resolution of the ascites antenatally.     

Macroglossia: Prenatal ultrasonographic diagnosis and proposed management

A case in which macroglossia was the sole unusual prenatal sonographic finding in a fetus affected with trisomy 21 is presented. The differential diagnosis of fetal macroglossia is given, emphasizing its strong relationship to fetal aneuploidy, together with the principles for evaluation and management.     

川西南阿什及尔期地层中的Ce异常及其古海洋学意义

川西南阿什及尔期地层中的全岩REE分配模式显示 ,含有浮游笔石和小型无铰纲腕足类的黑色页岩具有较低的Ce异常值 (0 .6 2～ 0 .74) ,而含有底栖三叶虫、有铰纲腕足类和藻类的非黑色页岩则具有较高的Ce异常值 (0 .92～ 1.30 )。Ce与其他元素的相关分析进一步揭示 ,Ce与Fe的相关性最好 (r =0 .85 ) ,与P的相关性次之 (r =0 .6 1) ,与Al的相关性较差 (r =0 .2 9) ,而与Mn和Ca几乎不相关 (r =0 .14,r =- 0 .0 2 )。实际观察可能表明 ,研究区底层水体在氧化和碱性条件下 ,Ce氧化为Ce4 + 并进入Fe的氢氧化物和磷酸盐的晶格中 ,或者被吸附到它们的表面 ,造成Ce在氧化水体中呈现负异常而在同期氧化沉积物中呈现正异常或负异常不明显 ;相反 ,在还原和酸性条件下 ,Ce在水体中以 +3价状态富集 ,引起Ce在同期缺氧沉积物中呈现明显负异常。作为古海水氧化还原指示的全岩Ce异常 ,通常限定于解释远洋细粒沉积物的沉积环境。我们的研究结果说明 ,移去化石骨骼 (通常是磷酸盐化石骨骼 )的浅海细粒沉积物同样可以用于全岩REE分析 ,以获得可靠的能够指示古海水氧化还原条件变化的Ce异常     

Evaluation of prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal 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 our region, 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. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.