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1.
A retrospective evaluation of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated oestriol (uE3) levels in maternal blood in the second trimester was conducted for cases of aneuploid pregnancies identified from a series of women who underwent amniocentesis. Blood samples were collected from 1078 women just before genetic amniocentesis was performed, mainly for individuals of advanced maternal age (greater than 35 years). Twenty-five maternal serum samples from pregnant women with an aneuploid fetus, including 14 with Down's syndrome, were available for analysis of all three parameters. An algorithm to detect Down's syndrome was used for this analysis with a risk of > or = 1:299 classified as screen-positive, this being found for 20.4 per cent of the cases (220/1078). The actual Down's syndrome detection rate was 85.7 per cent (12/14), whereas the detection rate for all aneuploidies was 72.0 per cent (18/25). Those that were not detected were two cases of trisomy 21, one trisomy 18, two trisomy 13, three sex chromosome abnormalities, and one case of an additional marker chromosome. The data indicate that this tri-analyte test should be provided after thorough genetic counselling and informed decision-making regarding maternal serum screening for women who wish for a prenatal diagnosis.  相似文献   

2.
Isolated choroid plexus cysts--the need for routine offer of karyotyping   总被引:1,自引:0,他引:1  
The management of isolated fetal choroid plexus cysts remains controversial. We have prospectively studied 15,565 pregnancies at two large obstetric units for the presence of choroid plexus cysts. In all cases where cysts were present at 19 weeks' gestation or greater, and were multiple, bilateral or solitary and greater than 5 mm maximum diameter, women were offered amniocentesis or placental biopsy, irrespective of the presence or absence of other abnormalities. Choroid plexus cysts were present in 152 (0.98 per cent) of cases. Four cases (2.6 per cent) of autosomal trisomy (three of trisomy 18, one of trisomy 21) were detected on prenatal karyotyping. In all cases, choroid plexus cysts were the only detectable prenatal anomaly. This study and a review of other large studies do not support the view that isolated choroid plexus cysts are a benign variant, the risk of trisomy being 1 in 82. Until further evidence is available, we recommend that cases of isolated fetal choroid plexus cysts at 19 weeks' gestation or greater should be offered prenatal karyotyping.  相似文献   

3.
The prevention of genetic diseases through prenatal diagnosis depends to a large extent on the awareness and acceptance of available methods by the public. A national survey was conducted among Greek women in order to explore their attitudes towards and their use of prenatal diagnosis in relation to their lifestyle. The survey was originally addressed to 3000 Greek women 18-65 years of age. Using as a criterion having a child 5 years old or younger, 350 women were eligible for the study. It was noted that 52 per cent of the respondents were adequately informed, while 48 per cent had either superficial knowledge of the subject or no knowledge at all. Amniocentesis was the method that most women were familiar with. The majority said that they were informed by their doctors and the media, and 13 per cent of the participants had prenatal diagnosis during a previous pregnancy. Twenty-two per cent of those who were not tested were over 35 years of age at the time of pregnancy. There was a significant positive correlation between awareness and acceptance of prenatal diagnosis, on the one hand, and the social, educational and financial profile of the women, on the other. Women aware of prenatal diagnosis adhered more closely to a healthy lifestyle and lived a family-centred life.  相似文献   

4.
This study examined the prevalence of cardiovascular risk factors among low-income women and assessed the level of awareness and attitudes about these risk factors in the community. A survey instrument was developed and administered by a single researcher to a convenience sample of women in health clinics and nonclinical community settings. These settings included: an academic clinic, community clinics, women's shelters, free meal sites, community centers, public housing units, and private homes in Philadelphia, Pennsylvania. Two hundred two women were selected without regard to age or race. The mean number of cardiovascular risk factors per subject was 2.6 (SD 1.4). Each of eight established cardiovascular risk factors was identified by 4% to 34% of subjects. Among those women with a specific risk factor, only 0% to 45% reported that they were at increased risk due to the presence of that factor. The prevalence of cardiovascular risk factors among low-income women is substantial. Knowledge and understanding of these risk factors is suboptimal, particularly among women personally affected by risk factors for cardiovascular disease.  相似文献   

5.
OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.  相似文献   

6.
OBJECTIVES: To describe the client characteristics and nature of services provided by women's health nurses and to examine whether the goals set for the service are being met. DESIGN: A retrospective study of women's health nurse (WHN) records from 1987 to 1991. SETTING AND SUBJECTS: All women attending the women's health nurse in the Southern Sydney Area Health Service, 1987 to 1991. Older women and women of non English-speaking background are specific targets for this service. OUTCOME MEASURES: Pap test and breast self-examination practices were examined in relation to age and ethnic background. Use of general practitioner services was examined for all women attending the women's health nurse in 1991. RESULTS: Forty-five per cent of clients were aged over 50, and 29 per cent were from a non English-speaking background. Older women were more likely to return for subsequent visits to the women's health nurse. The practice of breast self-examination increased significantly between visits among all women. Forty-one per cent of women had not had a Pap test for at least three years, 93 per cent of these women were screened at their first visit. Eighty-seven per cent of women on their first visit and 86 per cent of women revisiting the women's health nurse had seen their general practitioner within the previous year. CONCLUSION: Women's health nurses are meeting the goals set for their service in relation to health promotion and the screening of women. Their services are perceived by their clients as complementary to those provided by their general practitioners.  相似文献   

7.
Several studies raise the possibility that smoking during pregnancy is associated with a slightly decreased odds of trisomy 21 at birth. If it is, associations may reflect decreased incidence at conception, increased intrauterine loss (at one or several times in gestation), or both. Women (n = 13,729) undergoing prenatal diagnosis completed a questionnaire before learning karyotype results. For each women with a trisomy, up to 4 controls with chromosomally normal pregnancies, matched for age and hospital, were selected. Analyses drew on the 89 trisomy 21-control matched m-tuples in which diagnosis was by amniocentesis at 14-26 weeks. We compared the odds of smoking at last menstrual period and in the past in cases and controls. The odds of current smoking versus never smoking were decreased [adjusted odds ratio = 0.8, 95% confidence interval (CI) 0.4-1.6] and the odds of exsmoking increased (adjusted odds ratio = 1.4, 95% CI 0.9-2.4) in trisomy 21 cases. The association with current smoking was essentially unchanged when the unexposed reference group was defined as exsmokers and women who never smoked (adjusted odds ratio = 0.7, 95% CI 0.4-1.4). These results for current smoking agree well with a summary estimate based on combined studies of births. One interpretation is that at amniocentesis, as has been reported for births, current smoking is associated with a slightly decreased odds of trisomy 21. If associations at amniocentesis and birth are of equal magnitude, the explanation that observations at birth reflect increased loss in the second half of pregnancy with current smoking is unlikely to be correct.(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   

8.
This study describes the psychological aspects and the experience of pain in 2 groups of women undergoing amniocentesis in relation to the different indication for the procedure and duration of gestation in the respective groups. METHODS AND SUBJECTS: Data were collected after amniocentesis from 100 pregnant women, 50 of whom underwent age-related amniocentesis (14 weeks of gestation) and 50 for measurement of amniotic fluid insulin levels (30 weeks of gestation). A semi-structured psychological interview was used to collect information concerning experience of pain, cognition before amniocentesis, knowledge about the procedure and the most distressing aspects of amniocentesis. Visual analog scales (VAS, 0 to 10) were used to assess the degree of pain and emotional mood state. RESULTS: The results showed that emotional mood state before amniocentesis was fair (mean = 4.6) and increased after amniocentesis (mean = 8.1) The degree of pain during amniocentesis was assessed at a mean value of 2.9 measured on the 10-point visual analog scale. Fifty per cent of the sample considered the physical, the other 50% the psychological (anxiety and uncertainty) aspects as the most distressing factor of amniocentesis. Although women were given prior detailed information about amniocentesis they overestimated the degree of pain, related risk factors, and duration of the medical procedure. There were no differences in the investigated variables between the two different indications for amniocentesis or the weeks of gestation. CONCLUSION: The findings of the study indicate the psychological distress associated with amniocentesis, which is limited to a short period of time, and is independent of the indication for amniocentesis.  相似文献   

9.
A survey of knowledge, attitude and practice (KAP) regarding human immunodeficiency virus infection was performed on 899 students from 3 government-administered high schools located in the Bangkok Metropolitan area. Initially, all students completed a written questionnaire (pre-test) regarding HIV/AIDS. Following this, they attended a slide lecture presentation given by a specialist physician. The same test questionnaire was then completed by the same students six weeks (post-test) later for comparison of their previous KAP. The subjects composed of male to female ratio equal to that of the median age 15-16 years old. Sixty-seven per cent of the subjects were living with their parents, 16.3 per cent with relatives and 15 per cent with friends. Ninety nine per cent of the subjects had received information on HIV/AIDS before enrollment to this study. The source of knowledge ranged from television (89.1%), teachers (81.6%), pamphlets (80.2%), newspapers (75%), radio (55%), health care workers (53.4%), friends (38.6%) and only 32.5 per cent from their parents. The subjects' knowledge about HIV/AIDS and risk factors in the post-test questionnaire was significantly increased (P < 0.001) from the pre-test status. However, their attitudes to an HIV infected person were not significantly changed in the post-test questionnaire: only the "attending school" question showed significantly (P < 0.05) increased numbers of agreement. Similarly, the attitudes and practices to prevent HIV infection were not significantly (P > 0.05) different between pre-test and post-test questionnaires. The result of this study is to recommend regular school-based programs of education to increase awareness of preventive strategies for HIV/AIDS and sexually transmitted diseases.  相似文献   

10.
Guidelines for cardiac anaesthesia could reduce irrational variation in practice and so improve cardiac surgical outcome. In October 1994, a postal survey was undertaken to determine the views and attitudes of consultant cardiac anaesthetists in the United Kingdom towards guidelines. One hundred and forty correctly completed questionnaires were returned (minimum response rate 64%). Eighty-nine per cent believed that guidelines were of value in medicine whilst only 21% wanted national guidelines for cardiac anaesthesia. Responses to other parts of the questionnaire showed that those against guidelines for cardiac anaesthesia were less positive towards their advantages and more negative to their disadvantages compared with those in their favour. The majority of cardiac anaesthetists, although believing them to be valuable in medicine, do not want guidelines for cardiac anaesthesia because they are concerned that guidelines would be inflexible and would neither reduce variation in, nor improve the quality of, cardiac anaesthesia.  相似文献   

11.
Women undergoing prenatal diagnosis (PND) for psychological reasons constitute a considerable proportion (10-20 per cent) of tests carried out on pregnant women. In these cases, the couple is below the lower limit for parental age, and there is no increased genetic risk. The aim of the present study was to describe the psychosocial background of women asking for PND on psychological grounds and to evaluate their wish for PND. A consecutive series of 51 women were interviewed in the 12th-15th week of gestation before attending for the test. Forty-five per cent were close to the limit for advanced maternal age (35-37 years). Most of them were educated and had stable partners; more than half of the women worked in nursing. Almost half (23/51) of them had previous psychic problems and 29/51 showed depressive mood. During childhood, 21 women had experienced severe disease or handicap. One-third (17/51) of them had been a consolidating member in their family. More than half (33/51) described considerable problems in relation to their mother or to motherhood and 10/51 in their relation to their father. Half of the women described at least three and only three women none of the following six identified predisposing factors: previous or present psychic insufficiency, experience of disability in childhood, role as a significant supporter in childhood, problems in relation to own mother, problems in relation to own father. These women's anxiety was understandable when their psychological history and current mental status were recognized. More than half of the women (29/51) were considered to have strong and 22 moderately strong psychological reasons for their desire to have prenatal diagnosis.  相似文献   

12.
We report a case of mosaic trisomy 20, the most common autosomal mosaicism identified in amniocytes, ascertained in a woman referred for amniocentesis because of abnormal ultrasound at 18.1 weeks' gestation which revealed short femurs and nuchal thickening. Metaphase analysis of 98 clones revealed 47,XY, +20 in 96 cells (98 per cent). Trisomy 20 was demonstrated in 6 cells (12 per cent) in a total of 50 cells from two fetal blood cultures obtained after pregnancy termination. Fluorescence in situ hybridization (FISH) analysis of interphase nuclei utilizing a chromosome 20 alpha-satellite centromeric DNA probe revealed three signals in 57/546 nuclei (10 per cent) in fetal blood. Metaphase analysis of 167 cells from seven different fetal tissue sources revealed trisomy 20 in 32 cells (19.2 per cent). The percentage of trisomy 20 cells varied with tissue type, with the highest percentage (13/25 cells, 52 per cent) identified in the small intestine and lymph nodes and the lowest percentage (1/34 cells, 2.9 per cent) identified in a specimen of chorionic villi. Molecular genetic analyses utilizing polymerase chain reaction (PCR)-formated dinucleotide repeat polymorphisms demonstrated that the non-disjunctional event most likely occurred post-zygotically and that the origin of the extra chromosome 20 was maternal. This study is the first to demonstrate trisomy 20 cells in fetal blood, suggesting that mosaic trisomy 20 can be embryonic in origin. In cases of prenatally detected mosaic trisomy 20, examination of fetal blood should be considered, as well as study of placental membranes, skin, and urine sediment to confirm the karyotype and determine its significance.  相似文献   

13.
The fertility decline that began in Bangladesh in the late 1980s and continues has prompted diverse theories to explain it. In this qualitative analysis of 21 focus-group sessions with rural women ranging in age from the teens to late 40s and living in the villages of the Matlab area, the women's perceptions of their changing society and of the influence of the family planning program are examined. The women's statements reveal their awareness of the social and economic transition they are undergoing and their interest in family-size limitation, which is bolstered by a strong family planning program. Although the shifts in economic and social circumstances are not large, in conjunction with the strong family planning program they constitute a powerful force for change in attitudes, ideas, and behavior among these women.  相似文献   

14.
This cross-sectional survey was conducted in 20 randomly selected streets in Moradbad city in North India to determine the association of magnesium and antioxidant vitamins with risk of ageing. There were 595 subjects (314 males, 281 females) between 50-84 years of age inclusive. The overall prevalence of hypo-magnesemia was 11.8 per cent (n = 60) with a prevalence of 13.2 per cent (n = 33) in males and 10.6 per cent (n = 27) in females. The prevalence of hypomagnesemia showed significant declining trend in the concentration of serum magnesium, vitamin C, vitamin E and beta-carotene and a rising trend in lipid peroxides and diene conjugates with increase in age from 50-59 years to 70-84 years in both men and women. Multivariate logistic regression analysis showed that serum magnesium, vitamin C, vitamin E and beta-carotene were significant risk factors of ageing in both men and women. The findings suggest that some urban populations of India can benefit by consuming higher dietary magnesium, potassium and antioxidant vitamins for prevention of ageing.  相似文献   

15.
Prenatal diagnosis of chromosomal disorders has been performed for more than 20 years, mainly for advanced maternal age. Chromosomal abnormality rates derived from second trimester amniocentesis have mainly come from a collection of small-scale studies from North America and Western Europe. Accurate risk estimates for chromosomal abnormalities are important tools for the physician or obstetrician who would need to make referrals to a prenatal genetic center. This paper presents amniocentesis rates of clinically significant cytogenetic abnormalities for various indications, including advanced maternal age, previous chromosomal abnormality, parental structural rearrangement and a family history of aneuploidy as defined in the text. These data come from a Canadian prenatal diagnosis laboratory with more than 20 years experience in second trimester cytogenetic analysis. They show that the overall frequency of chromosomal abnormalities for advanced maternal age (> or = 35 years) is 1.79%. In this group, 21% of all abnormalities are structural rearrangements (including markers) and less than half of all abnormalities are trisomy 21. The advanced maternal age specific risk of aneuploidies at second trimester is 1.24%. Recurrence risk for aneuploidy after a previous one is 1.29%. However, it is much higher (4.84%) for women of > or = 35 years. When a parent's brother, sister, nephew or niece is affected, the risk of occurrence of aneuploidies (0.24%) is not elevated. When there is a balanced translocation in one of the parents, the overall risk is 10.2% for unbalanced translocations and 37.3% for balanced translocations.  相似文献   

16.
In this paper we examine the effects of socioeconomic development, the status of women, and family planning on fertility and the extent to which these effects vary among the nineteen districts of Bangladesh. The 1983 and 1991 Bangladesh Contraceptive Prevalence Survey data are used to examine the effects of these factors on differences in contraceptive use among currently married women aged 15-49. The proportion of currently married women aged 15-49 using contraception was 46.3 per cent in 1991, a considerable increase from 26.5 per cent in 1983. Contraceptive use rates for all the districts increased substantially over the period between 1983 and 1991 and the gap between Dhaka's rate and those of other districts was narrower in 1991 than in 1983. An analytical model composed of socioeconomic development, status of women, and family planning variables is tested using logistic regression. The logit model is used to evaluate the effects of a selected group of variables on the probability of using contraceptive methods. The analysis demonstrates clearly that socioeconomic development and women's status significantly impact the use of contraceptive methods in Bangladesh. The results also suggest that better-educated, employed women are more likely to use contraception than those who have little or no formal education and who are not employed. In 1983, rural-urban differences in contraceptive use were significant, but in 1991 area of residence was not significant, which suggests that family planning programs may have played an important role in providing contraceptive information and technology to rural areas. Our analysis also suggests that family planning programs operated more efficiently in some districts than in others, and regional differences remained important in 1991 as they were in 1983. Decomposition analysis suggests that shifts in population structure favored increased contraceptive use in Bangladesh. This analysis also indicates that change in rate is also important, contributing about 21 per cent of the overall increase in contraceptive use.  相似文献   

17.
The aim of our study was to assess Polish women's attitudes and possible acceptance of genetic tests for breast cancer susceptibility. The research was carried out in 1995-1996 and enrolled 200 women of different age, education and professional status who were asked to answer the questions included in a questionnaire. We estimate the percentage of women presenting different attitudes towards breast cancer genetic testing: 77% of women accepted genetic tests for breast cancer (BRCA) and 48% of women accepted informing their close relatives of the genetic tests results.  相似文献   

18.
Intracytoplasmic sperm injection (ICSI) is a new and most powerful technique to treat severe forms of human infertility. While the follow-up studies have not shown an increased malformation risk so far, the genetic implications of ICSI are still not fully understood. For this reason, many institutions routinely recommend or even enforce invasive prenatal tests after successful intracytoplasmic sperm injection. We have counselled 107 women pregnant through ICSI about prenatal diagnosis. Sixty-five had already received genetic counselling prior to the treatment (group 1), while 42 had not attended our clinic before (group 2). They were free to choose between invasive and non-invasive diagnosis or no prenatal tests at all. Fifty-four per cent of these patients had an indication for prenatal karyotyping or other invasive procedures independent of ICSI. Only 17 per cent of the total cohort made use of amniocentesis or fetal blood sampling, 82 per cent opted for non-invasive tests (ultrasound, serum screening), and one couple did not wish any prenatal studies. The preference for non-invasive procedures was stronger in group 1 (94 per cent) than in group 2 (65 per cent). We suggest that if patients pregnant through ICSI have the option to choose freely between invasive and non-invasive prenatal tests, they strongly favour the latter.  相似文献   

19.
We conducted a study to investigate ethnic group differences in levels of serum markers used in screening for Down's syndrome [serum alpha-fetoprotein (AFP), unconjugated oestriol (uE3), total human chorionic gonadotrophin (hCG), free alpha- and free beta-hCG, and dimeric inhibin-A], to estimate the extent to which maternal weight differences between ethnic groups explain these differences, and to estimate the effect of adjusting for ethnic group and maternal weight on screening performance. Serum measurements were taken from women who were screened prenatally for Down's syndrome. AFP, uE3, and hCG concentrations were available from 9462 white, 4215 black, and 4392 South Asian women with singleton pregnancies without Down's syndrome or neural tube defects between 15 and 22 weeks' gestational age. Frozen serum samples were available from a subset of 922 white, 449 black, and 135 South Asian women and were used for measurement of free alpha-hCG, free beta-hCG, and inhibin. Values were expressed as multiples of the median (MOM) for women of the same gestational age. There were statistically significant differences in the serum marker levels between ethnic groups that were not explained by differences in maternal weight. The main differences were found in black women compared with white women; black women had serum AFP levels 22 per cent higher (95 per cent confidence interval 20-24 per cent), total hCG levels 19 per cent higher (16-22 per cent), and free beta-hCG levels 12 per cent (3-21 per cent) higher. The other differences were less than 10 per cent. Adjusting for ethnic group only had a small estimated effect on screening performance: a maximum of about 0.5 per cent extra detection at a 5 per cent false-positive rate. At a fixed risk cut-off level, the false-positive rate will not be materially different between different ethnic groups. Adjusting serum markers for ethnic groups improves Down's syndrome screening performance to a very small extent. It is worthwhile because of its established value in AFP screening for open neural tube defects.  相似文献   

20.
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