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791.
A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone. 相似文献
792.
Dr J. L. Carrasco Juan A. Otero Gómez M. C. Vilar Mesa J. L. García Miranda J. M. Troyano Luque O. Morales Ruiz J. Parache Hernández 《黑龙江环境通报》1989,9(6):443-445
A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed. 相似文献
793.
Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents. 相似文献
794.
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
795.
The outcome of the pregnancy following (a) a mid-trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid-trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid-trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g. 相似文献
796.
J. G. Hooker M. Lucas B. A. Richards I. M. Shirley B. D. Thompson R. H. T. Ward 《黑龙江环境通报》1984,4(1):29-33
Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early. 相似文献
797.
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
798.
799.
通过构建水生动物-人工介质新型生态系统来研究太湖水源地水质改善效果.中试试验结果表明,对比3d和7d的水力停留时间(HRT),当HRT:7d,系统对TN、NO2--N、NO3--N、TP、PO4--P的平均去除率可分别达到79.00%、63.46%、14.57%、67.43%、35.81%;对比空白池,TN、NO2--N、NO3--N、TP、PO4--P的平均去除率仅为9.67%、7.09%、1.30%、9.92%、7.04%.通过该系统中水生动物的吸收和人工介质上微生物降解的协同作用,使得氮磷类污染物的去除效果明显.可见,水生动物-人工介质生态系统对改善太湖水源地水质有良好的效果,对构建安全的水源地生态系统具有积极的意义. 相似文献
800.
Ossie Geifman-Holtzman Eliezer J. Holtzman Theresa J. Vadnais Vincent E. Phillips Eleanor L. Capeless Diana W. Bianchi MD 《黑龙江环境通报》1995,15(3):261-268
The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions. 相似文献