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Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.  相似文献   
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In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α-L -iduronidase deficiency and an increased level of 35S-sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α-L -iduronidase, using phenyl α-L -iduronide and more recently 4–methyl-umbelliferyl α-L -iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. 35S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.  相似文献   
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The discussion on the possible increase of solar UV on earth due to the destruction of the stratospheric ozone has led to a renewed interest in the action of ultraviolet radiation on biological systems. The paper deals with changes at the cellular level stressing particularly molecular alterations in deoxyribonucleic acid, the carrier of genetic information. The most important repair processes by which lesions are removed or bypassed are described. It is also discussed whether the effectivity of a complex spectrum can be predicted on the basis of measurements with monochromatic radiation. Furthermore, possible consequences on human health are outlined which may be derived from cellular studies.  相似文献   
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A disastrous flood in Ibadan City, Nigeria in April 1978 aroused public interest in the Ogunpa river channelization scheme which had earlier been embarked upon by government. A questionnaire survey of 399 residents near the river was designed to examine three issues: (a) the losses sustained and the people's reaction to and perception of the causes of the flood; (b) their perception of the present and future uses of the river; and (c) their perception of the prospects of the channelization scheme.The results show that about 75% of the respondents were affected by the flood; 41% each lost property worth about N2960.00. Yet, many could not hope to move out of the flood zone mainly because of shortage of residential accomodation in the city. The factors given as being responsible for the flood were poor drainage, heavy rains, refuse disposal in the river, shallowness of the river channel and the unplanned layout of streets and buildings. Indeed, the major use of the river has been as a refuse dump, so that it is heavily polluted. Many respondents would like the river to be reclaimed to alleviate some of the socioeconomic problems confronting them. Recreational use of the river was not much considered. Majority of respondents thought the channelization scheme would bring some benefit. But, they are sceptical about its lasting impact unless it is done within the framework of a comprehensive programme of urban land management and protection and the improvement of living conditions in the city.  相似文献   
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