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11.
Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.  相似文献   
12.
A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.  相似文献   
13.
1977~1998年间,在苏格兰西部的艾尔萨克雷格对收集到的塘鹅蛋中的多氯联苯(PCB)同类物进行了回顾性分析.对一些年份所收集的塘鹅蛋中每年选择8~10个对其PCB同类物浓度范围分别进行了分析.所有的同类物在几年之内浓度都降在低,但不同的同类物降解速率不同.  相似文献   
14.
In vitro characteristics of human fetal cells have been investigated after chorionic villus sampling at the first trimester and amniocentesis at the second trimester of pregnancy. Light microscopy revealed heterogeneous morphology of cell types in both the chorionic villus culture and the amniotic fluid cultures. Based on the experiments performed, chorionic villus cells are more sensitive to pronase, trypsin, and versene during subculture and have a higher DNA content per single cell and release more [125I]-Beta-human chorionic gonadotropin into culture medium than those found in amniotic fluid cells. The practical applications of this study are discussed.  相似文献   
15.
16.
We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.  相似文献   
17.
This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.  相似文献   
18.
Maternal serum inhibin levels were measured in 19 second-trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one-tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha-fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.  相似文献   
19.
A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.  相似文献   
20.
Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20–30 per cent fetal bovine serum. The volume of amniotic fluid required to initiate culture can be as little as 1 ml. Amniotic fluid samples contaminated with red blood cells with no visible clot also grow well in the low serum medium. Cell-free amniotic fluid combined with equal parts of supplemented medium is useful in initiating cell culture.  相似文献   
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