依托人口和计划生育体系建立地中海贫血群体干预模式的实践与体会

目的 依托人口和计划生育服务体系建立地中海贫血(简称地贫)的群体干预模式,达到大幅降低重型地贫患儿出生的目的.方法 以广州黄埔、番禺、增城和天河待孕、已孕夫妇为干预对象,依托人口计划生育公共服务体系进行地贫的宣教、筛查、督促高风险家庭产前诊断及随访的全程管理与服务.结果 试点区建立以人口计生服务体系为主体的地贫宣教、筛查、产前诊断及随访网络,试点2年共有10 695个家庭参与筛查,确诊重症地贫胎儿16例,随访8360例新生儿无重症地贫患儿.结论 依托人口和计划生育服务体系可建立有效的地贫干预模式,实现地贫的主动全程群体干预.

Abstract：

Objective To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system. Methods Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou. Results The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn. Conclusion Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.     

依托人口和计划生育体系建立地中海贫血群体干预模式的实践与体会

目的 依托人口和计划生育服务体系建立地中海贫血(简称地贫)的群体干预模式,达到大幅降低重型地贫患儿出生的目的.方法 以广州黄埔、番禺、增城和天河待孕、已孕夫妇为干预对象,依托人口计划生育公共服务体系进行地贫的宣教、筛查、督促高风险家庭产前诊断及随访的全程管理与服务.结果 试点区建立以人口计生服务体系为主体的地贫宣教、筛查、产前诊断及随访网络,试点2年共有10 695个家庭参与筛查,确诊重症地贫胎儿16例,随访8360例新生儿无重症地贫患儿.结论 依托人口和计划生育服务体系可建立有效的地贫干预模式,实现地贫的主动全程群体干预.     

深圳市龙岗区育龄人群地中海贫血筛查干预模式的探究

目的探讨育龄人群地中海贫血筛查干预新模式.方法利用日趋完善、初具技术水平规模和具备优生咨询及群体筛查等技术实力的计划生育服务网络,对龙岗区十个镇育龄人群地中海贫血筛查干预,建立一个大面积人群筛查-高风险夫妇产前诊断-医学建议-选择性流(引)产体系,并发挥其正常功能.结果干预后育龄人群对有关地贫知识及基线答对率(82±3.6)%比干预前(40±6.5)%有显著提高(P＜0.01).结论探讨目前既经济又有效的育龄人群地中海贫血筛查干预模式,降低龙岗区地中海贫血(尤其是重症地贫)患儿的发生率,提高出生人口素质显得十分必要.     

2011年-2012年桂林地区地中海贫血流行病学与综合防治和干预措施

目的 探讨2011至2012年间桂林地区地贫流行病学发病情况与综合防治、干预措施。方法对来我院婚检、孕检夫妇进行地贫筛查,基因诊断及产前诊断,跟踪随访,建立地贫综合防治与干预。结果地贫筛查共300230人,阳性数35087人,筛查阳性率11．7％。其中,婚检筛查171177人,婚检筛查阳性数21368人,筛查阳性率12．5％;孕检筛查129053人,孕检筛查阳性数13719人,孕检筛查阳性率10．6％。行地贫基因诊断14105人,阳性5578人（其中已孕双阳夫妇345对）,阳性率39．5％,其中α地贫3262例,阳性率23．1％;β地贫2245例,阳性率15．9％;α与β复合型地贫71例,阳性率0．5％。行产前诊断的孕妇979例,地贫总阳性434例,其中α地贫289例,包括静止型40例,轻型167例,中间型31例,重型51例;β地贫145例,其中轻型106例,中间型及重型39例;终止妊娠83例。结论本次研究描述了2011年至2012年桂林市地贫流行病学情况,并通过综合的防治与干预措施,减少了重型地贫儿的出生,对当地优生优育、提高人口素质、减轻社会经济负担有着重大意义。     

2279例地中海贫血基因诊断的分析与研究

目的预防地中海贫血重症患儿的出生,减少出生缺陷。方法对16443例育龄人群采用地中海贫血定量法进行筛查,筛查夫妻均为携带者用单管多重PCR(mPCR)及DNA芯片反向点杂交(ASO/RBD-PCR)检测技术,分别进行α、β地中海贫血基因检测基因产前诊断。结果16443例受检者中筛查阳性6393例;其中2279例接受α、β地贫基因诊断,检出率分别为29.57%、48.31%。结论选择适当的检测方法对孕龄人群进行地贫诊断,对优生优育、干预地贫儿出生有着重要作用。     

广西部分地区地中海贫血的筛查与监测网的建立

广西地中海贫血的发生率约占20%,是世界高发区之一.近年来,随着人口数量得到有效的控制,提高人口素质已成为当今计划生育工作的重要工作.为了有效地降低广西出生人口缺陷,我们在广西计生委的大力支持下,以地中海贫血监测为突破口,探索广西优生监测网的建立,以达到有效地提高人口素质的目的.     

地中海贫血与先兆流产的关系

目的　对我院 3644例普通病人进行地贫筛选。方法　采用中山医大“一管脆性法” ,基因诊断选择gapPCR技术。结果　阳性 433例 ,发病率 1 1 88%;对先兆流产 1 363例住院病人进行地贫筛选 ,阳性率 1 9 66 %明显高于普通人群组 ;对先兆流产组 66对夫妇同时检测 ,阳性 1 9对 ,阳性率 2 8 78%,远远高于先兆流产一方受检组     

地中海贫血的筛查与产前诊断

目的通过筛查对可疑地贫患者进行基因诊断，对夫妇为同型地贫携带者进行产前诊断，避免重型地贫患儿出生。方法患者MCV〈82tl时进行血红蛋白电泳，用PCR及RDB法基因诊断。结果在14768例被筛查人群中，MCV异常1245例，占8．43％，夫妇为同型基因携带者53对，占0．36％，主动发现重型地贫胎儿14例，占26．4％，结论在地贫高发区进行地贫筛查和产前诊断是避免重型地贫患儿出生的有效措施。     

α地中海贫血的类型和诊断体会

α地中海贫血(α地贫)是α珠蛋白中α链合成部分或完全被抑制的遗传性疾病．多见于东南亚，在我国南方地区相当常见，我们在广西南宁进行新生儿脐血普查中其检出率为16．6％，而张暮洁等在广西百色地区调查竟高达18．2％。根据国内外文献，α地贫常见的临床分类为：静止型α地贫(α地贫2)；标准型α地贫(α地贫1)；     

β地中海贫血的类型和诊断体会

β地中海贫血(β珠蛋白生成障碍性贫血)是β珠蛋白生成减少或缺如所致的遗传性贫血，是中国地中海贫血的主要类型，在我国南方某些省区发病率相当高，了解其类型．掌握其基本诊断步骤和确诊条件是十分重要的。β地中海贫血临床常见类型有：重型；轻型；中间型；β地中海贫血复合异常血红蛋白；β地中海贫血复合α地中海分贫血。兹将各类型的诊断体会介绍如下。     

Epidemiological studies of natural family planning

The prevalence of the use of natural family planning (NFP) canbe estimated from sample surveys of married women in the reproductiveages (MWRA). Surveys in developed and developing countries duringthe past decade indicate that the prevalence of NFP use variesfrom 0 to 11%. In addition, if one considers NFP use in relationto other contraceptive methods, the percentage of all currentcontraceptors who use NFP varies from 1 to 35%. This suggeststhat NFP is an important method in certain countries. Pregnancyrates for NFP vary widely, but most reliable studies report1-year life-table pregnancy rates between 10 and 25/100 woman-years.The Billings ovulation method consistently has higher pregnancyrates than the sympo-thermal method and NFP users generallyhave among the highest pregnancy rates compared to other methods.The major safety issue concerning NFP is the risk of adversepregnancy outcomes associated with aged gametes. There are suggestionsfrom a number of investigations that conceptions distant fromovulation have a higher risk of spontaneous abortion and a higherproportion of male births. The findings with respect to birthdefects or multiple pregnancies are less consistent, althoughsome studies have reported an increased risk of chromosomalanomalies.     

DNA probe technology: implications for service planning in Britain

For certain genetic conditions DNA testing identifies carriers and determines the risk status of foetuses, thus helping parents to make more informed prenatal decisions. Data, collected from three genetic centres in England and Wales from August 1986 to July 1990, are used to describe trends in demand for DNA testing, the impact of DNA tests on carrier risk assessment, and the use of DNA tests in relation to pregnancy outcome. Altogether the data include 23,388 subjects and 681 pregnancies in 8738 families divided into five cohorts by year of entry and referral. The most frequent gene disorders referred to the genetic centres are currently being tested or will soon be tested. For these disorders the initial high level of activity has declined and may have reached steady state. Demand for DNA services is high for cystic fibrosis and Duchenne muscular dystrophy, intermediate for Huntington's disease, and low for adult polycystic kidney disease, phenylketonuria and tuberous sclerosis. Based on these findings we suggest that demand for DNA tests will be high in serious, untreatable and slow progressing conditions with early onset; intermediate for conditions affecting intellect and neurological integrity with later onset; and low for treatable, late-onset conditions, or those for which there is evidence of heterogeneity, and variable penetrance. It would be helpful to assess the extent to which this view of demand is confirmed when the new disorders being DNA tested are considered and for the pattern of activity of DNA testing for some types of cancer. Since no DNA centre could offer a fully comprehensive testing service, it is recommended that a structure is created to audit overall activity, assist in policy formulation, and influence supraregional service organisation, in order that the spread of DNA services be planned as effectively as possible. This structure would facilitate monitoring of the evolution of contract specifications agreed by commissioners and providers on a regional basis.     

Human papillomavirus infection among women attending family planning clinic in Nigeria: prevalence,correlates, and co-infection with Chlamydia trachomatis

Infection with high-risk genotypes of human papillomavirus (HPV) is considered the main cause of invasive cervical. A number of epidemiologic studies have suggested that HPV and Chlamydia trachomatis (CT) play a synergistic role in the etiology of cervical intraepithelial neoplasia and subsequent cervical cancer. The current study aimed to evaluate the HPV prevalence and the risk factors for co-infection with CT among women attending family planning clinic in Nigeria. Following enrolment, 90 patients were screened for IgG antibodies to virus-like proteins of HPV types 6, 8, 16, and 18. CT seropositivity was tested by enzyme-linked immunosorbent assay for the detection of IgG and IgM antibodies. The prevalence of HPV IgG was 20%. Seropositivity for CT IgM was 77.8% while the IgG was 0%. A total of 10 women (11.1%) were seropositive for both CT IgM and HPV IgG antibodies. Seropositivity for HPV IgG was significantly associated with age at marriage (P < 0.001), current Chlamydia infection (P < 0.011), and number of children (P < 0.025), while seropositivty for HPV IgG and Chlamydia trahomatis IgM was significantly associated with age at coitarche (P < 0.028), number of life sex partners (P < 0.033), and history of multiple sexual partners (P < 0.002).     

Ability and willingness to pay for family planning services in low resource settings: evidence from an operational research

ObjectiveThis paper establishes levels and patterns of ability and willingness to pay (AWTP) for contraceptives, and associated factors.Study designA three-stage cluster and stratified sampling was applied in selection of enumeration areas, households and individuals in a baseline survey for a 5-year Family planning programme. Multivariable linear and modified Poisson regressions are used to establish factors associated with AWTP.ResultsAbility to pay was higher among men (84%) than women (52%). A high proportion of women (96%) and men (82%) were able to pay at least Ug Shs 1000 ($0.27) for FP services while 93% of women and 83% of men who had never used FP services will in future be able to pay for FP services costed at least Shs 2000 ($0.55). The factors independently associated with AWTP were lower age group (<25 years), residence in urban areas, attainment of higher education level, and higher wealth quintiles.ConclusionAWTP for FP services varied by different measures. Setting the cost of FP services at Shs 1000 ($0.27) will attract almost all women (96%) and most of men (82%). Key determinants of low AWTP include residence in poor regions, being from rural areas and lack of/low education.Implications statement: Private providers should institute price discrimination for FP services by region, gender and socioeconomic levels. More economic empowerment for disadvantaged populations is needed if the country is to realise higher contraceptive uptake. More support for total market approach for FP services needed.     

Prevalence of HPV cervical infection in a family planning clinic determined by polymerase chain reaction and dot blot hybridisation

The overall prevalence of human papillomavirus (HPV) cervical infection in 131 women attending a family planning clinic was 7% (HPV 6/11, 16, 18, 31) by dot blot hybridisation, 53% (HPV 11, 16, 31) by polymerase chain reaction (PCR), and 56% by the two methods combined. HPV 16 and 18 were the commonest types (4% each) by dot blot, HPV 16 (39%) by PCR. Fifteen percent of subjects had mildly abnormal cervical cytology (grades 1A, 2A, or 3). There was no significant correlation between cytological abnormality and HPV positivity, or between cytological or HPV status and other postulated risk factors for cervical neoplasia. It is concluded that PCR is considerably more sensitive than dot blot DNA hybridisation in detecting HPV cervical infection in such a "low risk" setting, where HPV copy number may be low. Firm conclusions cannot be drawn from our results regarding a causal role for HPV or other factors in the development of cervical neoplasia.     

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination, and pre-implantation genetic diagnosis (PGD). In a cross-sectional study, 61 adult PJS patients were asked to complete a questionnaire concerning genetic testing, family planning, PND and PGD. The questionnaire was completed by 52 patients (85% response rate, 44% males) with a median age of 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (29%) respondents reported that their diagnosis of PJS had influenced their decisions regarding family planning, including 10 patients (19%, 9/10 females) who did not want to have children because of their disease. Termination of pregnancy after PND in case of a foetus with PJS was considered 'acceptable' for 15% of the respondents, whereas 52% considered PGD acceptable. In conclusion, the diagnosis of PJS influences the decisions regarding family planning in one third of PJS patients, especially in women. Most patients have a negative attitude towards pregnancy termination after PND, while PGD in case of PJS is judged more acceptable. These results emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.     

A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis

In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the reproduction data and to assess their knowledge and intentions with regard to the new possibilities of DNA diagnosis. The birth of a CF-child had a major impact upon subsequent family planning. This effect was found both in the reproductive plans reported by the parents and in the occurrence of pregnancies during the follow-up interval. This effect can be attributed mostly to the recurrence risk and consists of postponing pregnancies as well as of deciding against further offspring. If the CF-child was the firstborn, the chance of having another child was greater than if there was already a healthy child before the birth of the CF-child. Nevertheless, only 47% of the families in which the CF-child was the firstborn, and who could be followed for an average period of 7 years, had another pregnancy. A large majority of families intended to use prenatal diagnosis should a pregnancy occur. In half of the pregnancies that occurred between 1984 and 1987, a prenatal diagnosis was performed. On the other hand, there is less consensus about pregnancy interruption should prenatal diagnosis reveal an affected fetus.(ABSTRACT TRUNCATED AT 250 WORDS)     

Description and evaluation of a domiciliary perinatal mental health service focussing on early intervention

Summary   Objectives: To describe and evaluate a domiciliary early intervention service staffed by mental health nurses, and targetting women suffering from psychiatric illness in the perinatal period. Method: A review of the service structure, nurse training and supervision, patient profile, nursing assessments and interventions, consumer satisfaction and clinical response to intervention in a depressed subset of women, was undertaken. Results: 300 women and infants were assessed by the Service in a two year period, with 70% of patients going on to receive a nursing intervention. The majority of patients suffered from DSM-IV major depression or adjustment disorder. Half of all referrals were made "early" (10% antenatally and 39% within 3 months of childbirth) and mean stay in the service was 14 weeks. Consumer satisfaction, both from referrers and patients, was high. Of the depressed subset assessed before and after intervention by the EPDS (n = 84), 85% had a score of <10 at discharge, with a mean reduction in EPDS score from 17.9 to 5.5 (p < 0.01). Conclusions: This preliminary evaluation suggests that propriately trained and supervised community mental health nurses, liaising closely with primary health care professionals and service psychiatrists, provide accessible and appropriate early intervention to acutely depressed and anxious women and their infants in the perinatal period.