Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Fetal cardiac anomalies and genetic syndromes

Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Climate hazards: Lessons from recent events in the United States

Three recent cases of climate extremes are studied to identify human impacts and response strategies and to identify common characteristics that may help illuminate the nature of climate hazards. The 1980 heat wave in the central United States, 1981 cold wave in Boston, Massachusetts, and recent flooding and lake level rise in northern Utah, illustrate several important aspects of climate hazards that separate them from the more traditional set of catastrophic events (e.g. tornadoes, hurricanes and earthquakes) usually dealt with by hazards research and management. Among those characteristics are an emphasis on health impacts rather than physical damage, accumulative effects rather than short shocks, a tendency for impacts to accrue to certain socio-economic classes, and relatively slow onset. The management and research implications of these hazard characteristics are explored.     

Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic,monozygotic co-twin

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.     

Fetal death secondary to needle laceration during 2nd trimester aminiocentesis: A case report

A case of fetal death secondary to a needle laceration during a second trimester amniocentesis is presented. The need for careful pathologic evaluation of fetuses lost subsequent to these procedures is stressed.     

贵州赤水宝元-元厚地区油气遥感信息分析

本文通过对赤水宝元－元厚地区地质背景的分析，研究影响油气遥感无价值信息的主要因素，确定排除油气遥感无价值信息的基本原则，从而决定油气遥感有用信息，并作出地质解释，说明油气遥感直接勘探是一种快速、经济、有效的方法。     

Fetal cystic hygromata: Insights gained from fetal blood sampling

Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth-retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period.     

应用地球物理方法研究撞击坑

陨石的撞击作用使靶岩形成一个特殊的地球物理场，具有低密度、低电阻率、低速度、磁力异常等不同于周边的岩性。因此，可利用重力、电法、磁法、地震等地球物理方法探测撞击坑的形态特征和寻找新的冲击构造。