孕中期唐氏综合征血清学不同筛查方案的前瞻性对照研究及卫生经济学分析

目的比较孕中期唐氏综合征血清学二联与三联的筛查效率与经济学分析。方法收集2008年9～12月在北京市海淀区妇幼保健院产前筛查中心进行孕中期唐氏综合征筛查的孕妇,应用时间分辨荧光免疫法（TR—FIA）进行血清学筛查二联[甲胎蛋白（AFP）＋游离β-人绒毛膜促性腺激素（β—hCG）]及三联[AFP＋游离β—hcG＋游离雌三醇（E3）]检测,并随访其妊娠结局。结果（1）本研究共收集孕中期孕妇血清样本4,707例,随访到妊娠结局的4,245例,失访462例,妊娠结局随访率90．2％。其中唐氏综合征（21-三体）3例,其他染色体异常4例,神经管畸形1例。未出现因侵人性产前诊断流产患者。（2）三联筛查唐氏综合征检出率66．7％、假阳性率5．26％,所有染色体异常检出率75％;二联筛查检出率33．3％、假阳性率4．01％,所有染色体异常检出率37．5％;神经管畸形（NTD）检出率100％、假阳性率0．4％;18-三体假阳性率0．24％。三联筛查检出率高于二联筛查。（3）三联筛查每筛查出1例唐氏儿,所花血清学筛查及产前诊断费用约为499,375元,二联筛查为781,200元,二联筛查费用明显高于三联。结论中孕期血清学筛查效率三联筛查优于二联筛查,用于产前筛查与产前诊断费用三联筛查也低于二联筛查。     

个性化健康教育提高孕妇唐氏综合征筛查的依从性

目的提高孕妇接受唐氏综合征筛查的依从性，避免唐氏综合征患儿出生。方法将符合唐氏综合征筛查条件的孕妇1835人按就诊单双日分为观察组（902人）和对照组（933人），对照组按照孕妇学校健康教育计划内容以循环播放录像形式进行健康教育，观察组在此基础上由专职护士于孕妇第1次就诊时进行一对一个性化健康教育。结果观察组孕妇对唐氏筛查检测依从性及对唐氏综合征知识中的多数条目评分显著高于对照组（P〈0.05，P〈0．01）。结论个性化健康教育可提高孕妇对唐氏综合征知识的知晓程度，有效提高孕妇对唐氏综合征筛查的依从性。     

个性化健康教育提高孕妇唐氏综合征筛查的依从性

目的 提高孕妇接受唐氏综合征筛查的依从性,避免唐氏综合征患儿出生.方法 将符合唐氏综合征筛查条件的孕妇1 835人按就诊单双日分为观察组(902人)和对照组(933人),对照组按照孕妇学校健康教育计划内容以循环播放录像形式进行健康教育,观察组在此基础上由专职护士于孕妇第1次就诊时进行一对一个性化健康教育.结果 观察组孕妇对唐氏筛查检测依从性及对唐氏综合征知识中的多数条目评分显著高于对照组(P＜0.05,P＜0.01).结论 个性化健康教育可提高孕妇对唐氏综合征知识的知晓程度,有效提高孕妇对唐氏综合征筛查的依从性.     

综合性心理干预对产前筛查高风险孕妇妊娠结局的影响

目的探讨综合性心理干预措施对产前筛查高风险孕妇妊娠结局的影响。方法将300例产前筛查高风险孕妇随机分为干预组与对照组各150例。对照组孕妇于产科优生咨询门诊常规就诊、进行羊水穿刺的预约与实施;干预组孕妇在此基础上由专职人员在羊水穿刺前、中、后及整个孕期进行认知、支持等综合性的心理干预。结果干预组产前诊断率、分娩期并发症发生率及妊娠结局显著优于对照组(P<0.05,P<0.01)。结论综合性心理干预可提高产前诊断率、减少产前筛查高风险孕妇分娩期并发症的发生率,降低社会因素引产手术的发生,提高产前诊断质量及安全性。     

112名40岁以上高龄孕妇的早孕期骨密度调查

目的研究我院近年分娩112名40岁以上高龄孕妇的骨密度情况。方法超声骨密度仪对112名40岁以上早孕期妇女进行桡骨骨密度测定,共有初产妇44人,经产妇68人,为A组。选取同期35~39岁高龄孕妇224人,为B组,34岁及以下孕妇224人,为C组,所有孕妇进行早孕期生化检查,包括血钙、血磷、白蛋白的检测。结果 40岁以上高龄孕妇骨量减少者占19.6%,骨质疏松者占2.7%,骨密度、血钙、血磷与40岁以下孕妇差异无统计学意义(P0.05),初产妇与经产妇骨密度差异无统计学意义(P0.05),孕妇孕前体重指数与骨密度呈正相关。结论 40岁以上高龄孕妇早孕期骨密度与年轻孕妇比较差异无统计学意义,早孕期骨密度测量对发现及预防骨质疏松有意义。     

产前超声胎儿畸形筛查及产后超声随访的应用研究

目的研究产前超声畸形筛查及产后超声随访在非产前诊断医院中的应用。方法回顾性分析笔者所在医院2008~2011年诊断为胎儿畸形的资料,对比2006~2008年检出畸形胎儿的资料,对检出的数量及结构进行比较。结果阻止畸形胎儿出生数,检出畸形的种类均明显高于开展产前系统超声检查前,开展产后超声随访有效的避免医疗纠纷的发生。结论在非产前诊断医院,特别是县市级医院合理开展系统超声胎儿畸形筛查能对优生优育起到很大的促进作用。     

彩色多普勒检测胎儿三尖瓣反流产前筛查的临床意义

目的探讨彩色多普勒在中晚孕胎儿三尖瓣反流产前筛查中的临床意义及鉴别诊断。方法选择2009年3月-2012年6月就诊的11265例中晚期孕妇。观察其胎儿三尖瓣口彩色多普勒反流情况及脉冲多普勒评估流速、压差，追踪随访。结果1306例胎儿监测到三尖瓣反流，发生率11．6％。其中反流速度大于2．8m／s者46例，小于2．8m／s者1261例。结论彩色多普勒能够敏感地检出胎儿三尖瓣反流，对胎儿某些心脏疾病的诊断提供重要临床价值。     

4204例高龄孕妇的无创产前基因检测结果分析

目的探讨无创基因检测技术(NIPT)在高龄孕妇产前筛查胎儿染色体非整倍体中的应用价值。方法选取2014年12月至2018年6月在北部战区总医院进行NIPT筛查的4 204例高龄孕妇,比较同时期未做NIPT直接羊水穿刺诊断的高龄孕妇的检测结果,评估NIPT对于胎儿染色体非整倍体疾病检测的准确性及检出效率。结果 4 204例高龄孕妇中,NIPT提示胎儿染色体异常36例,其中同意羊水穿刺诊断30例,确诊阳性25例,阳性预测值为83.3%(25/30),确诊的核型中21-三体22例、18-三体3例。对于高龄孕妇,NIPT对胎儿染色体非整倍体的检出率与未行NIPT直接羊水穿刺诊断的检出率比较,差异无统计学意义(0.86%vs. 1.51%,P>0.05)。结论 NIPT筛查高龄孕妇胎儿染色体非整倍体具有较高的准确性,且对于21-三体的准确性和检出率高于18-三体和13-三体。对于拒绝行羊水穿刺的高龄孕妇可以建议选择NIPT。     

产前超声筛查中孕期胎儿心脏畸形对诊断染色体异常价值的Meta分析

目的采用Meta分析探讨中孕期胎儿超声心动图检查发现孤立性室间隔缺损、除外孤立性室间缺损的其他心脏及大血管畸形对染色体异常的产前筛查价值。方法检索Cochrane Library、PubMed、EMBASE、SCI、万方、维普、中国知网数据库中的中英文文献,按照纳入和排除标准筛选文献并进行偏倚风险评价,提取相关资料,检验异质性并选择相应的效应模型合并效应量,采用Meta-Disc 1.4软件,计算汇总敏感度、特异度及95%CI,绘制汇总受试者工作特征曲线,计算曲线下面积,对异质性文献进行敏感度分析。结果共纳入12篇文献,6篇文献分析了孤立性室间隔缺损对染色体异常的产前筛查价值,8篇文献分析了其他心脏及大血管畸形对染色体异常的产前筛查价值。采用随机效应模型合并效应量,两组汇总敏感度、特异度分别为32%、99%及29%、99%,SROC AUC分别为0.833 7及0.884 6,两组的汇总敏感度差异无统计学意义(P0.05)。结论中孕期超声心动图显示胎儿心脏畸形对染色体异常有一定的产前筛查价值,胎儿孤立性室间隔缺损是染色体异常的危险因素,存在其他心脏及大血管畸形未使染色体异常的风险增加。     

彩色多普勒超声在高龄孕妇中对泌尿系统畸形胎儿的产前诊断价值分析

目的 分析不同类型泌尿系统畸形胎儿的彩色多普勒超声声像图的特征,评价彩色多普勒超声对高龄孕妇在产前诊断泌尿系统畸形胎儿的临床研究和诊断价值.方法 随机选择2014年3月至2016年2月本院接收的1 642例平均年龄为35.2岁且孕周为14~38周的孕妇,进行彩色多普勒常规检查,同时观测孕妇腹中胎儿的健康状况,收集对孕妇以及胎儿的临床资料和彩色多普勒超声声像特征并进行统计分析,并对怀疑为泌尿系统畸形的胎儿进行随访验证.对检测出泌尿系统畸形胎儿、疑似泌尿系统畸形胎儿和漏诊的病例,在分娩后进行彩色多普勒超声诊断和随访,将随访的结果与产前彩色多普勒超声检查的统计结果相对照.结果 通过彩色多普勒超声检测1 642例孕妇,对其超声声像特征的资料进行分析,根据超声声像图特征做出诊断.检测发现有42例泌尿系统畸形的胎儿,包含肾发育不良胎儿4例,占9.5%;多囊性发育不良8例,占19.04%;肾盂扩张15例,占35.7%;肾积水6例,占14.3%;肾缺如7例,占16.7%;巨膀胱1例,占2.4%;尿道下裂1例,占2.4%;进行产前彩色多普勒超声检测的诊断结果与分娩后检查和随访结果一致,其中一例被误诊,产妇分娩后病症消失.结论 产前对高龄孕妇进行彩色多普勒超声检查,诊断出泌尿系统畸形胎儿的准确率较高.利用彩色多普勒超声检测,使得泌尿系统畸形胎儿在产前即可作出诊断,为临床诊断、采取措施和预后评估提供了可靠且重要的依据.     

孕中期多指标联合筛查胎儿染色体病的临床价值

目的 探求超声联合血清学指标在孕中期筛查胎儿染色体病的临床效果和可靠性. 方法 对自愿接受产前筛查的孕15～20周的孕妇应用血清甲胎蛋白(AFP)、游离人绒毛膜促性腺激素(β-hCG)、雌三醇(μE3)生化指标及超声检查进行孕中期筛查,应用软件计算风险值,以21-三体综合征风险率1/270、18-三体风险率1/350作为风险截断值,对高风险孕妇进行产前诊断;同时进行超声筛查,超声筛查综合评分大于2分者,也行产前诊断. 结果 接受筛查的12,605例孕妇中,血清学指标筛查高风险者824例,确诊为染色体异常39例.超声筛查综合评分大于2分者298例,随访确诊为染色体异常24例.联合筛查阳性232例,确诊为染色体异常43例. 结论 超声检查和血清筛查联合应用,可有效提高胎儿染色体异常的检出率,降低筛查假阳性率,减少染色体病胎儿出生.     

A perspective study and financial analysis of different protocols of second trimester maternal serum screening for Down's syndrome

<正>Objective:To compare the efficiency and related financial parameters of the double- and triple-marker test for the second-trimester maternal serum screening for Down's syndrome. Methods:The serum samples were collected from the 2~(nd) trimester pregnant women in this hospital and were examined for three biomedical markers[alpha-fetoprotein(AFP),freeβ-human chorionic gonadotropin(freeβ-hCG) and unconjugated estriol(uE_3)]by TR-FIA.The pregnancy outcomes were followed up and screening efficiency calculated for double-marker(AFP+freeβ-hCG) and triple-marker(AFP+ freeβ-hCG+uE_3) test. Results:(1)A total of 4,707 serum samples of 2~(nd) trimester pregnancy were collected in this study,of which 4,245 pregnancy outcomes got followed up by May 30,2009,with 462 cases lost to follow-up.The follow-up rate was 90.2%.3 cases of Down's syndrome,4 cases of other chromosome abnormalities and 1 case of neural tube defect (NTD) were found.There was no medically induced miscarriage by invasive tests.(2) Detection rate and false positive rate of triple marker test for Down's syndrome screening were 66.7%and 5.26%,respectively,while those in double marker test were 33.3%and 4.01%,respectively.The detection rate of all chromosome abnormalities was 75%in triple marker test and 37.5%in double marker test.The detection rate of NTD was 100%either in double or triple marker test.(3) It costs 499,375 RMB to avoid one Down's syndrome birth by using triple marker test and 781,200 RMB by using double marker test. Conclusion:Triple-marker test is superior to double marker test in 2nd trimester maternal serum screening for Down's syndrome,and costs less to avoid a Down's syndrome birth.     

Cost-effectiveness analysis of screening for osteoporosis in postmenopausal Japanese women

 Osteoporosis-related hip fracture is an important cause of mortality and morbidity in older people. In an aging society such as Japan's, prevention and treatment of osteoporosis is of paramount importance in reducing the risk of hip fracture. To determine the efficiency of screening by dual-energy X-ray absorptiometry for reducing the incidence of hip fracture, a cost-effectiveness analysis was conducted using a state-transition model. We compared the following four strategies in a hypothetical cohort of postmenopausal Japanese women: (1) no intervention; (2) hormone replacement therapy (HRT) for patients with osteoporosis after screening; (3) HRT for patients with osteopenia and osteoporosis after screening; and (4) universal HRT. Epidemiological and economic data were collected from published articles. HRT for patients with osteoporosis after screening was the most cost-effective strategy, with the marginal cost-effectiveness being 5.36 million yen/quality-adjusted life year (QALY). The ratios for other strategies exceeded 10 million yen/QALY. Sensitivity analyses showed that the drug effect and treatment cost of HRT had a significant influence on the results. Screening postmenopausal Japanese women and treating patients with osteoporosis may be an acceptable strategy, but its cost-effectiveness ratio seems only fair at present. Received: January 30, 2002 / Accepted: March 22, 2002 Offprint requests to: T. Fukui     

Down's syndrome in South Africa--incidence, maternal age and utilisation of prenatal diagnosis

Down's syndrome (DS) is the most common chromosomal cause of metal retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population born between 1980 and 1984 was evaluated. On the basis of pooled data involving 4,939,640 births, an overall world mean rate for DS of 1,34/1,000 live births (mainly Caucasian) for single-year maternal ages was calculated. Accordingly, 58 cases of DS were expected in the 40-year and older maternal age group in South Africa. Only 34 cases (59%) were detected prenatally, and a further 3 cases were identified by the notification system during the same period and in the same maternal age group. Another 24 DS cases in the maternal age group of 40 years and over could thus potentially have been detected prenatally and prevented, while 21 cases in this age group (36%) could not be accounted for at all. Cost-benefit analyses are shown and the number of amniocenteses required for various maternal age groups to affect the prevention of DS is calculated.     

Cost-effectiveness of screening women for abdominal aortic aneurysm

BACKGROUND: Women are usually not considered for abdominal aortic aneurysm (AAA) screening because of their lower prevalence of disease. This position may, however, be questioned given the higher risk of rupture and the longer life expectancy among women. The purpose of this study was to assess the cost-effectiveness of screening 65-year-old women for AAA. METHODS: A systematic review of the literature was conducted to obtain data of importance to evaluate the effectiveness of screening women for AAA. Data were entered into a Markov simulation cohort model. RESULTS: The review suggested some main assumptions for women with AAA. Prevalence is 1.1%. In 6.8%, the AAA is of a size that merits surgery, and the patients are fit for a procedure. For patients with an AAA, the yearly risk for elective surgery and the rupture incidence was 3.1% and 2.4%, respectively, in the invited group and 1.1% and 5.7% in the noninvited group. The operative mortality for elective surgery was 3.5%, and the total mortality for ruptured AAA was 86.3%. The long-term mortality for AAA patients was 3.6 times higher than for an age-matched healthy population. Screening reduced the AAA rupture incidence by 33% and the AAA-related death rate by 35%. The cost per life year gained was estimated at $5911. CONCLUSION: The incremental cost-effectiveness ratio was similar to that found for screening men, which reflects the fact that the lower AAA prevalence in women is balanced by a higher rupture rate. Screening women for AAA may be cost-effective, and future evaluations on screening for AAA should include women.     

Routine prenatal screening policy of fetal malformations by both maternal serum alpha-fetoprotein and ultrasound in eastern Hungary

Since January 1979, at our Genetic Counselling Unit in Debrecen all pregnancies at high risk for any reason have been screened sequentially by serum alpha-fetoprotein estimation (at the 16th week) and by ultrasound examination (18th week). This screening policy covered 1200-1500 consultations per year. From July 1983, the same prenatal screening policy has been extended to cover the whole pregnant population of two large counties in Eastern Hungary. In a six-year period over 300 fetal malformations were diagnosed. Details of the screening policy and the main groups of malformations diagnosed prenatally are demonstrated.     

产前超声诊断胎儿尿道下裂进展

尿道下裂是胎儿常见泌尿系统先天畸形。产前二维及三维超声检查均可用于诊断胎儿尿道下裂,二者联合可提高诊断效能;在此基础上进行彩色多普勒超声检查可进一步明确尿道开口位置,提高诊断准确率,降低误诊率。本文对产前超声诊断胎儿尿道下裂进展进行综述。