New estimates of down syndrome risks at chorionic villus sampling,amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population

Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36–52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13 139 having no test. Smoothed regression estimates of age-specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age-related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.     

Roadside dusts and soils contamination in Cincinnati,Ohio, USA

Roadside dusts and soils were collected from various nonindustrial districts in Cincinnati, Ohio, USA, and analyzed for lead and copper contents. Results showed that the recent lead phase-down action has reduced the level of lead, but the concentrations of both metals are still higher than the background levels for normal soil. Elevated concentrations of copper in heavily traveled highways were noted, suggesting that much of the copper pollutants is probably of automotive origin. The concentration of lead was found to vary with housing age, and higher levels of contamination in the older neighborhoods were observed. This result is probably ascribable to the accumulation of residues from leaded gasoline and lead-based paint in the past and the use of coal fire for space heating in older houses.     

武汉阳逻化石木及砾石层研究进展

阳逻砾石层及所含的大量的化石木,在古植物学、长江中游的古环境和古长江的形成与演化研究中具有重要意义。随着1984年阳逻被子化石木的发现,武汉阳逻化石木和阳逻砾石层就一直为学者们所关注。先后发现的硅化木化石已达200余件。在阳逻化石木鉴定、植物分类、植物生态学和古环境研究方面,在阳逻砾石层的时代及年龄、成因和物源等方面,做了大量的研究,发表了许多重要成果。然而,在一些基础问题研究上还存在着明显的分歧。建议:(1)在化石木的来源和砾石层物源分析方面,开展系统的沉积学、岩石学、矿物学以及地球化学的综合研究;(2)通过综合地层学研究,即生物地层(植物化石组合)、岩石地层(长江中游岩石地层对比)、地貌地层(长江中游地貌对比)和年代地层的综合对比,重点尝试宇生核元素、化石自旋共振(ESR)等测年技术的应用,以查明化石木和砾石层的形成时代;(3)加强化石木和砂砾层环境信息深入挖掘和综合对比分析。在查明化石木植物树种的组合全貌的基础上,通过古植被类型的恢复,特别是应加强化石木的显微结构分析,通过观察其构造特征和生长轮(木轮、年轮)的宽窄等信息,分析其古气候环境。     

试论浙江建德群和磨石山群时代

根据 8 0年代以来对浙江中生代晚期火山岩同位素年代学的研究资料 ,浙江省建德群和磨石山群火山岩年龄在 135～ 117Ma之间 ,永康群、天台群和衢江群火山岩年龄在 111～90Ma。结合近年来中国东部侏罗—白垩系界线研究的新成果 ,提出浙江建德群和磨石山群时代应为早白垩世     

Enrichment of fetal nucleated cells from maternal blood: Model test system using cord blood

The presence of small numbers of fetal nucleated red cells in the maternal circulation has been a stimulus for the development of technologies for non-invasive prenatal genetic analysis. Our laboratory has been assessing the feasibility of density gradient centrifugation followed by magnetic activated cell sorting (MACS) of cells expressing CD32 and CD45, to deplete maternal nucleated blood cells. We have examined the efficiency of each of the steps of this procedure using cord blood from term pregnancies as a source of nucleated red blood cells. Cord blood was shown to contain highly variable numbers of nucleated red cells. Three different density gradients were examined. There was no major difference in the performances of the double and triple gradients. Density gradient centrifugation resulted in enrichments of nucleated red blood cells of about 1000-fold relative to the total cell count. However, it was apparent that the selection of the cell layers which were most enriched for these cells would result in significant losses of nucleated red cells in other layers. MACS sorting of cells using CD45 resulted in white cell depletions ranging from 7 to 34-fold. These data provide a foundation for comparison with other methods and for optimization of the MACS technique.     

Temporal changes in Ohio amniocentesis utilization during the first twelve years (1972–1983), and frequency of chromosome abnormalities observed

The history of amniocentesis utilization in the seventh largest state of the United States is documented from its inception in 1972 through the first half of 1984. Amniocentesis utilization ratios for Ohio residents aged ⩾35 have increased from 0.21 per cent (19/9091) in 1972 to 23.4 per cent (1655/7531) in 1983, representing an average annual growth rate of 43.1 per cent. Of the amniocenteses performed from January 1, 1978–July 1, 1984, 71 per cent were referred for advanced maternal age (⩾35), 15 per cent for maternal anxiety (30–34), 10 per cent for family history or previous child with a genetic defect, and 4 per cent for other reasons. Between 1978-1983 utilization by women 45 years of age was only 20 per cent higher than women 35 even though their risk of giving birth to a Down syndrome child was about one order of magnitude higher. In addition, various factors were tested as to whether they affected utilization of amniocentesis by women ⩾35 during 1978 1983. A strong correlation of +0.89 existed between county population size and utilization ratios. No difference in utilization was found between whites and nonwhites, regardless of county population size. When utilization ratios were compared separately between Protestants, Catholics and other religions in Ohio's most populated county, no statistical differences were found. From 1978–July 1, 1984, the frequency of all cytogenetically abnormal chromosome results observed in Ohio amniocenteses to women ⩾35 was 2.48 per cent (187/7536). Of these, 2.15 per cent (162/7536) had unbalanced karyotypes. Future maximum amniocentesis utilization for women ⩾35 is estimated at 60–70 per cent.     

The time of appearance and disappearance of fetal DNA from the maternal circulation

A single copy Y-chromosome DNA sequence was amplified using the polymerase chain reaction (PCR) from the peripheral blood of 30 women who had achieved a pregnancy through an in vitro fertilization (IVF) programme. The time of conception was known precisely and was confirmed by serial ultrasound scans. Conceptions were dated as the number of weeks after fertilization plus 2, to give a time equivalent to the obstetric menstrual dating of the pregnancy (LMP). Y-chromosome-specific DNA was detected in all pregnancies with a male fetus (18/30). The earliest detection was at 4 weeks and 5 days, and the latest at 7 weeks and 1 day. Y-chromosome-specific sequences were no longer detected in any of the male pregnancies 8 weeks after delivery. No Y-chromosome sequences were detected in any of the pregnancies where only female babies were delivered. This demonstrates that fetal DNA appears in the maternal circulation early in the first trimester, that it can be identified in all pregnancies tested by 7 weeks, that it continues to be present throughout pregnancy, and that it has been cleared from the maternal circulation 2 months after parturition. Early non-invasive prenatal diagnosis for aneuploidies and inherited disorders will be possible in all pregnancies if fetal cells can be isolated free from maternal contamination (or identified accurately in the presence of maternal cells) without problems of contamination from previous pregnancies.