We investigated a case of massive feto-maternal bleeding by using negative magnetic cell sorting (MACS) and fluorescent in situ hybridization (FISH). A 37-year-old pregnant woman had an uncomplicated amniocentesis for advanced maternal age at 16 weeks' gestation. The fetal karyotype was 46, XY. At 19 weeks' gestation, she had a minor car accident and slight vaginal bleeding. A subsequent Kleihauer-Betke test showed a 140 ml feto-maternal haemorrhage. Serial sonographic examinations indicated a normal fetus and placenta. We performed FISH analysis on maternal peripheral blood at 25 weeks. Anti-CD45 and MACS were used to deplete maternal leucocytes, enriching the proportion of fetal nucleated erythrocytes present. The isolated cells were analysed by using dual-colour FISH with X and Y specific probes. Approximately 65 800 nucleated cells were obtained after MACS depletion. A total of 234 cells were analysed by FISH. The results revealed that 70 of the nucleated cells (30 per cent) were male with one X and one Y signal. Among these cells, six male metaphases were observed in spontaneously dividing cells. 相似文献
Different types of fetal nucleated cells can be found in maternal blood, providing the possibility of non-invasive prenatal diagnosis. For this purpose, we have studied fetal erythroblasts. We discovered that haemoglobin-containing cells treated with 2,3-bisphosphoglycerate (BPG) can be visualized by a peroxidase reaction, which at the same time visualizes an in situ hybridization (ISH) signal, specific for the X, Y or 21 chromosome. In order to prove that the BPG-positive cells were erythroid, an anti-glycophorin A (GPA) antiserum combined with a staphylococcal rosette technique was used. To enrich for erythroblasts, leukocytes were depleted from maternal blood by treatment with anti-CD45 monoclonal antibody and passage over an anti-mouse IgG-coated glass bead column. To evaluate the potential of the method for clinical use, we studied maternal blood samples from 18 women referred to us for prenatal diagnosis between 6 and 19 weeks of gestation. Erythroblasts were found in 13 out of 14 normal pregnancies. Erythroblasts with a Y-signal were found as early as 9 weeks of gestation, but at 6 weeks the Y-signal was seen in BPG-negative cells only. These cells showed an epithelioid morphology indicating that they were cytotrophoblasts. The BPG-ISH method provides a simple technique for identifying erythroblasts and simultaneously visualizing a desired probe. 相似文献
Blood flow across the atrioventricular valves and outflow tracts was measured in 55 normal fetuses and 32 fetuses with haemoglobin (Hb) Bart's disease between 18 and 26 weeks of gestation. The mean velocities remained unchanged in both normal and affected fetuses over the gestations studied. The volume flow across both atrioventricular valves and outflow tracts increased as the gestation advanced in both normal and affected fetuses, but was significantly higher in affected than in normal fetuses. The same magnitude of increased flow was found in both hydropic and non-hydropic fetuses with Hb Bart's disease. These findings suggest that fetuses with severe and long-standing anaemia have a remarkable cardiac compensatory mechanism for the maintenance of tissue oxygenation. In response to anaemia and circulatory loading, the cardiac chambers and outflow tracts enlarge proportionately up to twice the normal values. Because of this response and the operation of the Frank-Starling mechanism, the heart is able to maintain a normal mean velocity of propulsion and the net output is increased to two to three times that in normal fetuses. Hydropic changes in these anaemic fetuses appear unrelated to cardiac failure as cardiac failure is not observed at the time that hydropic changes develop. 相似文献
A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components. 相似文献
Objective: The objective of this study was to understand the social context and circumstances surrounding alcohol-impaired driving prior to fatal crash involvement for drivers with an illegal blood alcohol concentration (BAC ≥ 0.05 g/100 ml or 0.00 g/100 ml for restricted license holders).
Methods: Coroners' case reports investigating fatal crashes in South Australia over a 3-year period (2008–2010) were examined. The personal and crash characteristics of drivers with an illegal BAC were compared with those who had a legal BAC. For each driver with an illegal BAC, information was recorded including characteristics of last trip, location and social context of alcohol consumption, quantity and type of alcohol consumed, BAC level, presence of drugs, perceived alcohol intoxication, and alcohol dependence. Official traffic offense records were also obtained.
Results: Of the 284 fatal crashes included in the study, 34% (n = 95) involved a driver or rider with an illegal BAC. Prior to the crash, alcohol was most frequently consumed by drivers in rural areas, within private homes, and was part of normal social activities. Drivers recorded a high level of alcohol impairment, with a mean BAC of 0.173 g/100 ml and a level of alcohol dependence that was above the Australian national average (7.4 vs. 3.9%). In addition, 23% of drivers were known to be experiencing psychological stress at the time of the crash. The results also confirm that drink driving recidivism continues to be a significant problem, with 44% of drivers recording at least one prior alcohol driving offense.
Conclusions: Alcohol-impaired driving continues to be a leading cause of fatal crashes. The popularity of drinking at home, particularly in rural areas, has implications for police enforcement strategies and suggests that drink driving interventions that focus on community values and looking after friends might be beneficial. Importantly, the study highlights the need for a broader holistic approach to reduce the high levels of alcohol consumption and alcohol dependence underlying drink driving behavior. 相似文献