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991.
992.
993.
Dr. C. Dawn DeLozier-Blanchet Eric Engel Philippe Extermann Béatrice Pastori 《黑龙江环境通报》1988,8(4):281-286
Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, + 20,-2,-21, + t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta. 相似文献
994.
Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein) 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic villus sampling (CVS) in the first trimester. An elevation of serum AFP levels was consistently seen, while fluctuations in excess of 10 per cent of the pre-CVS levels of SP1 and PP12 were seen in the majority of patients. Fluctuations in hCG and PAPP-A were consistently less than 10 per cent of pre-CVS values. Post-CVS changes in levels were not apparently associated with any feature of the technique, the pregnancy, or its outcome (one missed abortion). As feto-maternal haemorrhage is a common event, anti-D should be offered to rhesus-negative women undergoing CVS. In the prediction of subsequent miscarriage, only hCG and PAPP-A measurements should be considered. 相似文献
995.
Marcy C. Speer Margaret A. Pericak-Vance Larry H. Yamaoka James Koh Wu-Yen Hung Peter C. Gaskell Jr. Jeffery M. Vance Richard J. Bartlett Allen D. Roses 《黑龙江环境通报》1988,8(6):427-437
Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined. 相似文献
996.
A computerized system which simultaneously acquires and quantifies several ultrasonically detected fetal activities, including gross body movements, breathing movements, and eye movements, was developed in order to obtain additional quantitative data on fetal behaviour. Movements were automatically related to fetal heart rate allowing computation of their mean incidence, duration, lag time and percentage time spent moving during different heart rate patterns. The incidence of various behavioural states was also calculated. The study of 15 healthy fetuses near term revealed the existence of statistically significant differences in these parameters between low and high variability patterns of fetal heart rate suggesting a quantitative modulation of fetal movements by behavioural states. 相似文献
997.
The prenatal diagnosis by ultrasound of an unusual case of supernumerary head is reported. The problems of differential diagnosis, the pathological findings after voluntary interruption of the pregnancy, and the problems of obstetric management are presented. 相似文献
998.
A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315+ cells and their use for prenatal diagnosis of β-thalassaemia. H315 + cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible. 相似文献
999.
M. Schwartz M. Super J. Schmidtke C. Buys M. Farrall D. Halley M. Krawczak J. E. Poncin D. Loukopoulos M. Devoto 《黑龙江环境通报》1988,8(8):619-624
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service. 相似文献
1000.