Antenatal maternal serum screening for Down's syndrome: results of a demonstration project.

OBJECTIVES--To assess the implementation of antenatal screening for Down''s syndrome in practice, using individual risk estimates based on maternal age and the three serum markers: alpha fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin. DESIGN--Demonstration project of Down''s syndrome screening; women with a risk estimate at term of 1 in 250 or greater were classified as "screen positive" and offered diagnostic amniocentesis. SETTING--Hospital and community antenatal clinics in four health districts in London. SUBJECTS--12,603 women of all ages with singleton pregnancies seen between February 1989 and the end of May 1991, with follow up of the outcome of pregnancy completed to the end of 1991. MAIN OUTCOME MEASURES--Uptake of screening, detection rate for Down''s syndrome, false positive rate, odds of being affected given a positive result, and uptake of amniocentesis in women with positive screening results, together with the costs of the screening programme. RESULTS--The uptake of screening was 74%. The detection rate was 48% (12/25), and the false positive rate was 4.1%, consistent with results expected from previous work based on observational studies. There was a loss of detection due to the selective use of ultrasound scans among women with positive screening results. One affected pregnancy occurred among 205 reclassified as negative; this illustrated the danger of false negatives occurring in this group and lends weight to the view that if an ultrasound estimate of gestational age is used it should be carried out routinely on all women rather than selectively among those with positive results. The estimated cost of avoiding the birth of a baby with Down''s syndrome was about 38,000 pounds, substantially less than the lifetime costs of care. CONCLUSION--Antenatal maternal serum screening for Down''s syndrome is effective in practice and can be readily integrated into routine antenatal care. It is cost effective and performs better than selection for amniocentesis on the basis of maternal age alone.     

青少年GATA2缺陷继发骨髓增生异常综合征一例并文献复习

摘要 目的：提高对青少年GATA2缺陷继发骨髓增生异常综合征（MDS）疾病的认识。方法：回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结。结果：患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化。完善血液遗传全外显子基因检查提示患者GATA2基因突变。修正诊断为GATA2缺陷综合征、继发MDS( MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危) 、继发骨髓纤维化。完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变。患者治疗期间反复出现多部位感染。进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变。患者GATA2基因突变系父系遗传。结论：对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗。     

Serum screening for Down's syndrome: some women's experiences.

OBJECTIVES--To describe the experiences of a small group of women who had positive results after serum screening for Down''s syndrome. DESIGN--Semistructured telephone interviews and correspondence with women after a positive screening result (four women) negative amniocentesis results (eight), or termination of a pregnancy with a confirmed abnormality (eight). SUBJECTS--20 women who contacted Support After Termination For Abnormality about their experiences of serum screening for Down''s syndrome. MAIN OUTCOME MEASURES--Women''s knowledge and understanding of the test; staff misconceptions; communication of results; how women coped with the diagnostic process; attitudes to the test and to termination of abnormal fetuses. RESULTS--All women were made anxious by their positive screening test, no matter how they were told. The women''s experiences suggested that medical staff were unclear about the implications of screening tests and how to interpret risk. Even after receipt of negative amniocentesis results some women remained anxious. Staff did not always recognise women''s concerns while awaiting amniocentesis results. CONCLUSIONS--The way in which serum screening is being implemented does not always meet the needs of women with positive results. Some of the problems were not specific to screening for Down''s syndrome. When screening tests are introduced policies should be adopted to ensure appropriate support for participants.     

Supportive family relationships and adolescent health in the socio-cultural context of Iran: a qualitative study

Parents have a critical role in adolescent health. The association of adolescents'' perceptions of family relationships with adolescent health was investigated using a sample of 67 female adolescents who participated in eight focus group discussions, utilising a purposeful sampling method. All tape-recorded data were fully transcribed and content analysis was performed. Three themes were identified, namely emotional support, responsible parents and well-informed parents. With regard to some of the challenges in Iranian adolescents'' relationships with their parents, it is necessary to educate parents to be alert to their role in adolescent health.     

Retrospective audit of different antenatal screening policies for Down's syndrome in eight district general hospitals in one health region

ObjectiveTo compare the effectiveness of different screening policies for the antenatal detection of Down''s syndrome.DesignRetrospective six year survey.SettingMaternity units of eight districts.ParticipantsWomen who completed their pregnancies between 1 January 1994 and 31 December 1999 (155 501 deliveries).Results335 cases of Down''s syndrome were identified, 323 in continuing pregnancies or liveborn children. Of these, 171 were identified antenatally. Seven different screening policies were used, in three principal groups: serum screening offered to all mothers, maternal age with serum screening or nuchal translucency available to limited groups, and maternal age combined with anomaly scans. The districts that used serum screening detected 57%, those using maternal age plus serum or nuchal translucency screening 52%, and those using a maternal age of ⩾35 and anomaly scans detected 54%. The least successful district, which offered amniocentesis only to women aged over 37 years, detected only 31%. If amniocentesis had been offered from 35 years, as in all other districts, the detection rate would have risen to 54%. Across the region 15% (range 12-20%) of pregnant women were 35 years or more at delivery, and 58% (33-69%) of infants with Down''s syndrome were born to women in this age range.ConclusionsCurrent additional serum or nuchal translucency screening techniques for antenatal detection of Down''s syndrome are less advantageous than previously supposed. More pregnant women were aged over 35 than has been presumed in statistical models used in demonstration projects of serum screening and, as a result, the proportion of affected fetuses in this age group is much greater than predicted.

What is already known on this topic

Serum screening for Down''s syndrome has been presumed to be more effective than screening by maternal ageThere have been no controlled studies comparing serum screening with screening by maternal age, and its greater efficacy has been presumed from mathematical modelling, which assumed that only 5% of pregnant women were aged over 35 yearsThe modelling predicted that only 20-30% of cases of Down''s syndrome would arise in women aged over 35 and made no allowance for the effects of routine anomaly scanning

What this study adds

15% of pregnant women were aged over 35 years, more than double the 5-7% presumed in statistical models of screening58% of babies with Down''s syndrome were born to women aged 35 years or moreSerum screening and nuchal scanning did not achieve significantly higher antenatal detection rates of Down''s syndrome than the use of maternal age and routine anomaly scanning     

Risk assessment adjusted for gestational age in maternal serum screening for Down's syndrome.

OBJECTIVE--To investigate the relation between errors in calculation of gestational age and assessment of risk of Down''s syndrome and to analyse the implications for screening programmes. DESIGN--Retrospective analysis of dating of gestational age by menstrual history v ultrasound scan. Computer program with maternal age and concentrations of alpha fetoprotein and free beta human chorionic gonadotrophin to calculate risk for a range of expected dates of delivery. Computer simulated prospective application of new screening programme. SETTING--Teaching hospitals in Nottingham. SUBJECTS--31,561 women with singleton pregnancies with gestational age based on routine ultrasound scan. Computer simulation of 20,000 women in three age ranges (up to 37; up to 40; all). MAIN OUTCOME MEASURES--Distribution of error between gestational age based on ultrasound scan v menstrual history. Proportion of women in the population who require precise dating of pregnancy; proportion of women who require amniocentesis. RESULTS--With gestational age derived from ultrasound scan as reference the 95% confidence interval for gestational age by menstrual history was -27 to +9 days. A screening programme for Down''s syndrome for women up to age 40 would yield a low risk (< 1:250) for this range of days in 86.0% of cases. The 14.0% of women remaining would have one or more high risk values in their report and would thus require an ultrasound scan for precise dating of the pregnancy; 30% of these--that is, 3.7% of the screened population--would be identified as high risk and require consideration for amniocentesis. CONCLUSIONS--Screening programmes for Down''s syndrome require the facility for precise dating of pregnancy to improve the accuracy of risk assessment. This can be achieved without introducing additional scans for early dating in the whole population but by selecting only those cases (about 14%) when an error in dates is likely to affect the risk of Down''s syndrome.     

Serum screening for Down's syndrome: experiences of obstetricians in England and Wales.

OBJECTIVES--To assess the experiences of obstetricians in England and Wales of serum screening for Down''s syndrome. DESIGN--Postal questionnaire survey. SUBJECTS--Questionnaires were sent to all practising obstetricians in England and Wales with nonacademic appointments who had not participated in an earlier (randomly sampled) survey of obstetricians'' attitudes (n = 555). Responses were received from 393 (71%), of which 351 were analysed. The data represent about one third of obstetric consultants in England and Wales. MAIN OUTCOME MEASURES--The extent of use of serum screening for Down''s syndrome, and the problems encountered. RESULTS--Serum screening for Down''s syndrome was being offered on some basis by virtually all obstetricians in the survey. Nearly half the sample said that they did not have adequate resources for counselling all the women to whom screening was offered. Many problems were reported, which in all cases were more common than equivalent problems encountered with serum screening for neural tube defects. Over 80% (289) said that women not understanding the test was a problem. CONCLUSIONS--There is considerable confusion associated with serum screening for Down''s syndrome. The precedent of serum screening for neural tube defects does not seem to have lessened the problems experienced, rather the contrary. Many obstetricians report inadequate resources for counselling, which is consistent with the high prevalence of problems associated with women not understanding the test. There is an urgent need to consider what counselling should consist of and who should undertake it and to ensure that necessary resources are available.     

Randomised comparison of the effectiveness and costs of community and hospital based mental health services for children with behavioural disorders

ObjectiveTo test the hypothesis that a community based intervention by secondary child and adolescent mental health services would be significantly more effective and less costly than a hospital based intervention.DesignOpen study with two randomised parallel groups.SettingTwo health districts in the north of England.ParticipantsParents of 3 to 10 year old children with behavioural disorder who had been referred to child and adolescent mental health services.InterventionParental education groups.Results141 subjects were randomised to community (n=72) or hospital (n=69) treatment. Primary outcome data were obtained on 115 (82%) cases a year later. Intention to treat analyses showed no significant differences between the community and hospital based groups on any of the outcome measures, or on costs. Parental depression was common and predicted the child''s outcome.ConclusionsLocation of child mental health services may be less important than the range of services that they provide, which should include effective treatment for parents'' mental health problems.     

胎盘特异性基因4 mRNA基因在孕妇外周血中的检测及临床价值

目的:应用实时荧光定量PCR(RT-PCR)技术对不同孕周孕妇外周血浆胎盘特异性基因4(PLAC4)m RNA基因进行检测,寻找唐氏综合征产前诊断的可靠生物学标志物,为无创性产前诊断提供新的突破口。方法:按入组标准随机选取健康育龄未妊娠女性5例,正常健康妊娠孕妇60例(早期妊娠20例、中期妊娠20例、晚期妊娠20例),唐氏筛查高危孕妇8例,正常分娩24 h女性5例。共收集外周血浆样本78例。应用RT-PCR技术,检测样本中的PLAC4 m RNA基因含量,并进行相对定量分析。结果:健康育龄未妊娠女性及正常分娩后24 h女性外周血浆中均无游离胎儿PLAC4 m RNA基因的存在;正常健康妊娠孕妇不同孕周标本均检测到PLAC4 m RNA基因,以早期妊娠作为对照,中期妊娠是早期妊娠的1.99倍,晚期妊娠是早期妊娠的3.73倍;唐氏筛查高危孕妇均检出PLAC4 m RNA基因,含量是早期妊娠的6.36倍。结论:PLAC4 m RNA基因有望成为唐氏综合征产前诊断的可靠性生物学标志物。     

Reliability and Validity of an Interviewer-Administered Adaptation of the Youth Self-Report for Mental Health Screening of Vulnerable Young People in Ethiopia

Objective

Evaluate the reliability and validity of the Youth Self-Report (YSR) as a screening tool for mental health problems among young people vulnerable to HIV in Ethiopia.

Design

A cross-sectional assessment of young people currently receiving social services.

Methods

Young people age 15–18 participated in a study where a translated and adapted version of the YSR was administered by trained nurses, followed by an assessment by Ethiopian psychiatrists. Internal reliability of YSR syndrome scales were assessed using Chronbach''s alpha. Test-retest reliability was assessed through repeating the YSR one month later. To assess validity, analysis of the sensitivity and specificity of the YSR compared to the psychiatrist assessment was conducted.

Results

Across the eight syndrome scales, the YSR best measured the diagnosis of anxiety/depression and social problems among young women, and attention problems among young men. Among individual YSR syndrome scales, internal reliability ranged from unacceptable (Chronback’s alpha = 0.11, rule-breaking behavior among young women) to good (α≥0.71, anxiety/depression among young women). Anxiety/depression scores of ≥8.5 among young women also had good sensitivity (0.833) and specificity (0.754) to predict a true diagnosis. The YSR syndrome scales for social problems among young women and attention problems among young men also had fair consistency and validity measurements. Most YSR scores had significant positive correlations between baseline and post-one month administration. Measures of reliability and validity for most other YSR syndrome scales were fair to poor.

Conclusions

The adapted, personally administered, Amharic version of the YSR has sufficient reliability and validity in identifying young vulnerable women with anxiety/depression and/or social problems, and young men with attention problems; which were the most common mental health disorders observed by psychiatrists among the migrant populations in this study. Further assessment of the applicability of the YSR among vulnerable young people for less common disorders in Ethiopia is needed.     

A women's health shop: a unique experiment.

A women''s health shop in Edinburgh was open for 16 months to provide information and advice in a non-clinical setting and to allow an interchange between informal and formal care in the community. Staffed by nurses, it was visited by 5664 women and 400 men, an average of 24 people each working day. The most popular topics for discussion were women''s health problems, and 17% of women had a personal discussion with the nurse. The shop provided a useful and popular service and offered a practical method of furthering the concept of health promotion.     

Women's health. The childbearing years and after.

Health and development planners have tended to see women primarily in context of their reproductive role. As a result, solutions to women''s health needs have been restricted to expanding and improving maternal and child health systems. There has recently been a major shift in direction, largely because of the influence of the world conference on population and development held in Cairo in 1994. Dr Guiseppe Benagiano, director of the special programme of research, development and research training in human reproduction based at the WHO, says, "We need to remind ourselves constantly that reproductive health is not simply a biomedical issue but one with serious implications for our general health and by extension, for all our efforts in human social and economic development." The 1993 world development report on health identified the lack of a clear strategy for engaging women in health care and suggested that child health services, prenatal care, treatment of sexually transmitted diseases, and family planning services should be provided jointly at convenient times. In an example of this, the Chilean Institute of Reproductive Medicine now offers integrated family planning services at the same time as child health services, and Thailand is experimenting with mobile health clinics to reach women in their homes. As the proportion of elderly women increases, old age is increasingly being seen as a female issue. With the impact of urbanisation and industrialisation, more of these women are living isolated lives, often suffering from chronic debilitating diseases. In his opening statement to the global commission on women''s health in April 1995 which focused on health conditions of women in old age, Dr Hiroshi Nakajima, the WHO''s director general, said: "Our goal should not be solely to extend lives in the physical sense, but to ensure that the added years are worth living."     

未婚人工流产女性生殖健康知识知晓现状调查及其影响因素分析

摘要 目的：探究未婚人工流产女性生殖健康知识知晓现状,并分析其影响因素。方法：随机选取2018年3月~2021年5月期间在同济大学附属第一妇婴保健院计划生育科终止妊娠的未婚女性486例作为研究对象。其中,拒绝调查者21例,实际调查465例,应答率95.68%（465/486）,数据清理后有效问卷459份,有效率为98.71%（459/465）。调查未婚人工流产女性生殖健康知识知晓现状,未婚人工流产女性生殖健康知识知晓情况的危险因素采用单因素及多因素Logistic回归分析。结果：研究对象中,女性生殖健康知识知晓总分最低分17分,最高分为92分,平均（65.74±10.82）分;得分大于80分者179例,优良率为39.00%（179/459）。得分在80分及其以下的女性280例。未婚人工流产女性生殖健康知识知晓情况与年龄、女方文化程度、父母婚姻状况、流产次数、工作性质、居住地、恋爱经历、男方文化程度有关（P<0.05）。而与家庭月收入、更换工作次数无关（P>0.05）。年龄、男方文化程度工作性质、居住地、女方文化程度、流产次数、父母婚姻状况是未婚人工流产女性生殖健康知识知晓情况的影响因素（P<0.05）。结论：未婚人工流产女性生殖健康知识知晓水平一般,受到年龄、女方文化程度、父母婚姻状况等多种因素影响,应针对其影响因素特点加强生殖健康知识的宣教,以降低人工流产的风险。     

Assessing the utilization of maternal and child health care among married adolescent women: evidence from India

This study explores the prevalence and factors associated with the utilization of maternal and child health care services among married adolescent women in India using the third round of the National Family Health Survey (2005-06). The findings suggest that the utilization of maternal and child health care services among adolescent women is far from satisfactory in India. A little over 10% of adolescent women utilized antenatal care, about 50% utilized safe delivery services and about 41% of the children of adolescent women received full immunization. Large differences by urban-rural residence, educational attainment, religion, economic status and region were evident. Both gross effect and fixed effect binary logit models yielded statistically significant socioeconomic and demographic factors. Women's education, wealth quintile and region are the most important determinants for the utilization of maternal and child health care services. Health care programmes should focus more on educating adolescents, providing financial support, creating awareness and counselling households with married adolescent women. Moreover, there should be substantial financial assistance for the provision of delivery and child care for married women below the age of 19 years.     

Women's access to health care in Ghana: Effects of education,residence, lineage and self‐determination

Abstract

Women's physical and psychological access to health care was analyzed using the 2003 Ghana Demographic and Health Survey (GDHS), a nationally representative study for monitoring population and health in Ghana. Female respondents from the 2133 cases in the couple's data set were used in this study. Women's level of education was positively related to physical but not to psychological access to health care. Residing in an urban area was positively related to both types of access. Matriliny consistently showed positive effects on physical access. In addition to these demographic factors, both physical and psychological access were positively related to women's self‐determination, i.e., women's right and ability to make real choices about their lives including their health, fertility, sexuality, childcare and all areas where women are denied autonomy and dignity in their identities as women. Self‐determination factors both mediated the effects of background factors on access and added explanatory power to the models.     

Psychopathology in adolescent children of physicians.

The clinical records of 27 adolescent children of physicians who were treated in a psychiatric unit for adolescents were studied. Most of the children had been referred by their physician fathers for evaluation of conduct or mood disorders. These referrals were often the focus of family distress. There appeared to be no typical syndrome presented by physicians'' children. Those treating such patients should be especially sensitive to the possibility that parental denial will increase the patient''s resistance to therapy. Family therapy, an effective treatment for psychologic problems in adolescents, is often avoided by physicians.     

Social determinants of self-reported health in women and men: understanding the role of gender in population health

Background

Women and men share similar health challenges yet women report poorer health. The study investigates the social determinants of self-reported health in women and men, and male-female differences in health.

Methods

Data on 103154 men and 125728 women were analysed from 57 countries in the World Health Survey 2002–2004. Item Response Theory was used to construct a composite measure of health. Associations between health and determinants were assessed using multivariate linear regression. Blinder-Oaxaca decomposition partitioned the inequality in health between women and men into an “explained" component that arises because men and women differ in social and economic characteristics, and an “unexplained" component due to the differential effects of these characteristics. Decomposition was repeated for 18 countries in the World Health Organization (WHO) African region and 19 countries in the WHO European region.

Results

Women''s health was significantly lower than men''s. Health was associated with education, household economic status, employment, and marital status after controlling for age. In the pooled analysis decomposition showed that 30% of the inequality was “explained", of which almost 75% came from employment, education, marital status. The differential effects of being in paid employment increased the inequality. When countries in Africa and Europe were compared, the “explained" component (31% and 39% respectively) was largely attributed to the social determinants in the African countries and to women''s longevity in the European countries. Being in paid employment had a greater positive effect on the health of males in both regions.

Conclusions

Ways in which age and the social determinants contribute to the poorer health status of women compared with men varies between groups of countries. This study highlights the need for action to address social structures, institutional discrimination and harmful gender norms and roles that differently influence health with ageing.     

Screening for Down's syndrome in the North East Thames region.

The suggested strategies for a screening programme for Down''s syndrome by maternal serum alpha fetoprotein concentration were examined and tested on the experience of the North East Thames Regional. Screening by maternal serum alpha fetoprotein concentration may be used to identify pregnancies at increased risk, but this is useful only in women aged over 32 whose collective risk is greater than one in 200. The absolute probability of carrying babies with Down''s syndrome for individuals in this high risk group can then be calculated and used to decide whether further diagnosis by amniocentesis is desired.     

Modesty,sexuality, and breast health in Chinese-American women.

Although breast cancer rates among Chinese women are lower than among white women, breast cancers and other breast diseases often go undetected and untreated in Chinese women. Cultural values with respect to modesty and sexuality, especially in unmarried women, partly account for a Chinese lack of attention to breast health. In addition, institutional barriers, such as an unavailability of information in Chinese languages, few female physicians, and an absence of educational campaigns, contribute to Chinese women''s neglect of breast health.