SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Within the Kaiser Permanente system of Northern California, testing for HIV during prenatal vis its was encouraged. During a 5-year period the percentage of women agreeing to HIV testing increased from 50% to 76%. Eighty-three HIV-positive pregnancies occurred in 63 women. Only 17 (20%) of the 83 pregnancies were identified by the voluntary testing program.
In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme, is deficient in homogenates of cultured amniotic fluid cells of fetuses with Zellweger syndrome, catalase a soluble peroxisomal matrix enzyme is present in normal amounts. Digitonin titration experiments revealed a striking difference in the percentage of particle-bound catalase in control and Zellweger amniocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (less than 5% particle-bound), whereas in control amniocytes catalase was found to be predominantly particle-bound (62% +/- 8%, n = 5). Measurement of the percentage of particle-bound catalase by means of digitonin titrations thus provides a simple prenatal test for Zellweger syndrome via the direct demonstration of the presence or absence of catalase-containing particles (peroxisomes).
OBJECTIVE: To compare maternal age- and education-specific use of amniocentesis in France and the United States. METHODS: We used two nationally representative datasets, National Perinatal Survey of 1998 in France (n = 12 816) and National Center for Health Statistics birth data for 1997 in the United States (n = 3 799 975). Analyses included binomial regression with test of interactions between country, maternal age and education. RESULTS: Amniocentesis use was more than threefold greater in France than in the United States (Risk Ratio (RR) 3.2, 95% CI, 3.1-3.4). This was true across maternal age and education groups. Differences in use of amniocentesis were greatest, however, for women with lower levels of education and older (>/=38 years) women. CONCLUSION: Our results suggest greater use and lesser disparities in maternal age- and education-specific use of amniocentesis in France as compared to that in the United States. These differences may be due to several factors, including differences in women's cultural values and preferences. They may also represent barriers to effective access to prenatal testing, particularly for women in lower socioeconomic groups, in the United States.
Huntington's disease is an autosomal dominant neurodegenerative disorder characterized by involuntary movements, psychological deterioration and dementia. Indirect predictive testing by linkage analysis has been possible since 1983; direct predictive testing by detecting the instable CAG-repeat has been possible since 1993. Persons at risk were asked, by questionnaire, about their motivation and regarding attitude taking part in indirect and direct predictive and prenatal diagnostics. About half of the interrogated German persons at risk wish to undertake DNA analysis, whereas 32.7% do not want to take part in a direct predictive test. Motives for taking the test are the same as those mentioned in the literature (certainty of carrier status, decisions concerning marriage and further children, planning a career). Motives for not taking the test mostly involve psychological problems in coping with the test result. 45.7% wish to undergo a direct prenatal test (main cause: certainty of the gene status of the child), whereas 27% would not take this test (because of non-toleration of abortion). Only statistical trends could be seen between the intention to take the predictive or prenatal test and some social and demographic variables. The at-risk persons would not change their attitudes regarding indirect or direct predictive and prenatal DNA analysis; they seem to have a confirmed opinion about molecular genetics, mostly depending on familial and social background.
We investigated the cost-effectiveness of strategies for screening pregnant women for Chlamydia trachomatis. Screening was not cost-effective unless certain conditions were met. Direct antigen testing of all pregnant women would be cost-effective if the test cost less than $6.30 or the prevalence of infection exceeded 6%. However, the positive predictive value of the test was only 51%. Culturing was not cost-effective until the prevalence of infection exceeded 14.8%. If a direct antigen test cost less than $3.90 or prevalence exceeded 8.7%, direct antigen testing of all women and using culture to confirm positive direct antigen tests would be cost-effective. If a direct antigen test cost $8.00 and culture cost $25.00, the excess cost of performing a direct antigen test in all women and confirming positive results with culture would be $2.09 per pregnant woman. Screening all pregnant women for chlamydia is not cost-effective, but the excess cost is modest when direct antigen tests are used.
Explore the source record for details and available documents.
OBJECTIVE: While generally two phases of prenatal genetic counseling are distinguished, i.e. pre- and post-test counseling, we revealed a third form of communication during the testing procedure. The content of this intermediate communication was explored. METHODS: A secondary analysis was performed on data obtained in another observational study, which was focussed on how indefinite testing results are clarified. Thirteen testing trajectories in which communication with parents took place during the testing procedure were further analysed. RESULTS: In the majority of cases the content of intermediate communication was similar to the content of pre-test counseling. In four cases the content was different, because the communication involved the parents in decision-making about a testing result, which was still being processed. CONCLUSION: Communication in (prenatal) genetic testing is not always restricted to separate phases, but can be an ongoing process occurring parallel to, and sometimes even intertwined with, the testing process. The advocated model of shared decision-making might work better once it is determined if the decision concerns the area wherein the provider is the expert, or the patient. PRACTICE IMPLICATIONS: Further research into the process of continuing decision-making could clarify how providers' and patients' responsibilities regarding the diagnostic process are distributed. Meanwhile, the possible occurrence of continuous decision-making should be mentioned in (prenatal) genetic counseling.
Previous analyses of prenatal screening for neural tube defects have generally found benefits to exceed costs. The usual screening battery follows an elevated maternal serum alpha-fetoprotein level with high-resolution ultrasound and/or amniocentesis. Current thinking focuses on weighing the risk of a false-negative (an abnormality missed) against the risk of an amniocentesis-induced fetal loss. This thinking neglects the risk of a false-positive (an unaffected fetus labeled abnormal) and individual parents' preferences concerning a false-negative vs a fetal loss. With these risks included, we find that high-resolution ultrasound is appropriate for all women with elevated serum alpha-fetoprotein. Women with moderately elevated serum alpha-fetoprotein who have negative ultrasound scans need no further testing, nor do women with highly elevated serum alpha-fetoprotein and positive ultrasound scans. Further testing using amniocentesis to confirm the ultrasound result is appropriate for women with moderately elevated serum alpha-fetoprotein and positive ultrasound scans, and for women with highly elevated serum alpha-fetoprotein and negative ultrasound scans. The actual cutoffs defining normal, moderately elevated, and highly elevated serum alpha-fetoprotein depend on several parameters, particularly the underlying prevalence of neural tube defects and the parents' preferences.
OBJECTIVES: To establish the spontaneous miscarriage rate and compare it with the procedure related miscarriage rate for amniocentesis and chorionic villus sampling (CVS) by experienced operators. DESIGN: Retrospective audit over a two-year period of all patients having a consultation for prenatal diagnosis before 12 weeks gestation. SETTING: A specialised obstetric and gynaecological ultrasound practice. POPULATION: A total of 2366 patients, mostly over 35 years of age. METHODS: Between 1 July 1995 and 30 June 1997, all patients having a prenatal consultation decided between amniocentesis, CVS or no invasive testing. The CVS was performed either transabdominally or transcervically, depending on the position of the uterus and placenta. MAIN OUTCOME MEASURES: Delivery, termination of pregnancy for chromosomal abnormality or miscarriage. RESULTS: Over the two-year period, 2366 patients had a prenatal consultation and outcome data were available for all but 53 patients. After consultation, 346 patients decided not to have any prenatal testing and 29 (8.4%) of these had a spontaneous miscarriage. Amniocentesis was requested by 839 patients; however 10 miscarried before the scheduled procedure. After the amniocentesis, there were 13 terminations for chromosomal abnormality and three miscarriages. CVS was requested by 1128 patients; however, 23 miscarried before the scheduled procedure. Transabdominal CVS was performed in 665 patients, transcervical in 416 and in 24 cases the documentation of the method used was unclear. Eleven patients miscarried after the transabdominal CVS (1.65%) compared with nine patients miscarrying after the transcervical CVS (2.16%), which was not statistically significant (p = 0.27). CONCLUSION: In the group studied, the spontaneous miscarriage rate from nine weeks gestation is very high (8.4%). The procedure-related loss rate from amniocentesis was less than 1 in 280. Transabdominal CVS appears to have a lower fetal loss rate than transcervical CVS, but much larger numbers are needed to prove this.
The effect of named reporting and mandatory partner notification in New York State on the rate of consent for prenatal HIV testing was examined by retrospective chart review. In the six months prior to the introduction of mandatory partner notification and named reporting, 318/328 patients (96.95%) accepted HIV testing. In the six months after implementation, 303/305 patients (99.34%) accepted HIV testing. Although limited in power, no significant decline in the rate of consent for testing or the number of patients receiving testing was detected. [RR 1.02 (1.00 < RR < 1.05)].
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Recent advances in the prenatal diagnosis of birth defects including amniocentesis, ultrasound and fetoscopy are discussed. Indications, technical considerations and limitations are presented. Parental reactions to the stresses encountered during the process of prenatal diagnosis are related. Implications are identified for nursing care practice in different clinical settings including prenatal diagnostic units, paediatric services, obstetrical services and in the community.
Explore the source record for details and available documents.
We report the prenatal diagnosis of two fetuses with Sanfilippo disease type B. In both pregnancies there were excessive amounts of heparan sulphate in amniotic fluid and the activity of N-acetyl-alpha-D-glucosaminidase was undetectable in cultured amniotic fluid cells. The predictions were confirmed by enzyme assay of cultured skin fibroblasts from the aborted fetus or the affected infant. The disorder was excluded for two other pregnancies at risk and the predictions are considered to be correct because of the normal progress of the healthy children.
We conducted a study to elucidate factors influencing women's decisions regarding prenatal genetic screening for and diagnosis of chromosomal disorders and to learn about their experiences with these tests and with the medical system. Using focus group interviews and questionnaire assessments, we obtained detailed impressions of a diverse group of 75 pregnant women. Participants varied with respect to race/ethnicity, religious background, and reproductive history, as well as in their decisions about use of prenatal screening and diagnostic testing. Substantial variation surfaced in attitudes toward testing. Factors influencing women's views included available resources, feelings about having a child with Down syndrome, moral beliefs, family and social influences, perceptions of one's own health, the difficulty of becoming pregnant, and willingness to put the fetus at elevated miscarriage risk. Such findings indicate that age-based policies regarding access to prenatal diagnoses that, among other reasons, are based on the balance of risks between bearing a child with a chromosomal abnormality versus procedure-related loss are incompatible with the range of concerns that women bring to this decision and the weight individual women may assign to the outcomes.