1798例孕早中期整合筛查筛查效果分析

目的对比分析孕早中期整合筛查与孕中期三联产前筛查对检出胎儿染色体异常和神经管畸形的筛查效率,探讨整合筛查的临床价值,寻求更好的产前筛查模式。方法1798名孕早中期整合筛查孕妇孕早期（11w～13＋5w）检测血清标志物PAPP-A、Freeβ-HCG,同时B超测量胎儿颈项透明层厚度（NT）,于孕中期（15w～19＋6w）测定血清标志物AFP、Freeβ-HCG、uE3,同期4295名孕妇行孕中期三联筛查（检测母血清标志物AFP、Freeβ-HCG、uE3）,对筛查高风险孕妇进行后续产前诊断,并对妊娠结局进行随访,将两组筛查效果进行对比分析。结果整合筛查组高风险筛查高风险率1.06％,假阳性率0.95％,明显低于中期筛查组,两组差异有显著统计学意义。结论整合筛查组具有更低的假阳性率,避免了很多不必要的侵入性的产前诊断,是更有效的产前筛查模式。     

5993例孕早中期整合产前筛查效果分析

目的对比分析孕早中期整合产前筛查与孕中期三联产前筛查对检出胎儿染色体异常和神经管畸形的筛查效率,探讨整合产前筛查的临床价值,寻求更好的产前筛查模式。方法 5993名孕早中期整合产前筛查孕妇孕早期(11w~13+5w)检测血清标志物PAPP-A、Freeβ-HCG,于孕中期(15w~20+6w)测定血清标志物AFP、Freeβ-HCG、u E3,同期12 665名孕妇行孕中期三联筛查(检测母血清标志物AFP、Freeβ-HCG、u E3),对筛查高风险孕妇进行后续产前诊断,并对妊娠结局进行随访,将两组筛查效果进行对比分析。结果整合筛查组高风险率2.97%,假阳性率2.80%,阳性预测值5.62%,明显低于孕中期筛查组,两组差异有显著统计学意义。结论整合产前筛查组具有更低的假阳性率,避免了很多不必要的侵入性的产前诊断,是更有效的产前筛查模式。     

孕早中期联合产前筛查实验分析

目的联合孕早期B超及孕中期母血清检测,提高对唐氏综合征(Down′s Syndrom e,DS)患儿的筛查率。方法对孕早期(11-14 w)孕妇进行B超胎儿颈项部透明层厚度(nuchal translucency th ickness,NT)的测定,以及孕中期(14-20 6w)孕妇进行甲胎蛋白(AFP)和游离-β-绒毛膜促性腺激素(Free-β-HCG)两项血清生化指标检测,经特殊软件计算,对可能影响检测结果的部分因素,如年龄、体重、孕周等加以分析校正,对结果为高危的孕妇进行遗传咨询,在知情同意的情况下进行B超和羊水或脐血培养产前诊断。并随访追踪每例筛查孕妇直至胎儿出生。结果筛查4376例孕妇,孕早期B超检出NT高危43例,孕中期母血清检测DS高危252例,神经管缺陷(Nervous tube defect,NTD)高危78例。发现21-三体综合征4例,其它染色体异常2例;另外12例为染色体正常的出生缺陷。结论孕早期B超测定NT及孕中期母血清生化标志物AFP和Free-β-HCG联合应用,对胎儿先天缺陷尤其是对DS产前筛查有效可行,经产前诊断及时采取措施,降低了这些缺陷儿的出生。     

Down''''s综合征的孕中期筛查

目的检测孕妇血清标物甲胎蛋白(AFP)、游离-β-绒毛膜促性腺激素(Free-β-HCG)进行孕中期胎儿唐氏综合征无创伤性产前筛查.方法采用金标定量系统对孕中期(14～22w)妇女进行AFP、Free-β-HCG检测,并配有唐氏综合征产前筛查专用软件进行分析校正,对筛查出的先天性缺陷胎儿,在孕妇知情的情况下,选择适宜的产前诊断.结果接受筛查的358名孕妇中,唐氏综合征高风险孕妇为32例,筛查阳性率为8.94%,其中12例接受羊水细胞培养染色体检查,占高危孕妇的37.5%,检出染色体异常核型4例,占高危孕妇羊水细胞培养染色体检查的33.3%.结论利用孕妇血清AFP、Free-β-HCG进行孕中期胎儿唐氏综合征无创伤性产前筛查,对减少病残儿的出生,具有重要意义.     

孕中期21三体综合征、18三体综合征的产前筛查与产前诊断结果分析

目的通过检测妊娠中期孕妇血清甲胎蛋白(AFP)、游离-β-绒毛膜促性腺激素(Free-β-HCG),进行孕中期胎儿21三体综合征、18三体综合征的无创伤性产前筛查。方法采用时间分辨免疫荧光分析法(DELFIA),对孕15~20w孕妇血清AFP、Free-β-HCG的浓度进行检测,结合母龄、孕周、体重等因素,经过软件计算风险率,对高风险孕妇在知情的情况下,自愿选择进行羊膜腔穿刺,羊水细胞染色体核型分析。结果在5750例孕妇中筛查出21三体高风险297例,占筛查总数的5.17%,18三体高风险37例,占筛查总数的0.64%;在258例羊水细胞染色体检查中,检测出21三体2例,18三体3例,其它异常10例。结论利用孕妇血清AFP,Pree-β-HCG进行孕中期胎儿21三体综合征、18三体综合征无创伤性产前筛查,结合产前诊断,对减少出生缺陷的发生,具有一定的意义。     

唐氏综合征产前筛查与诊断

目的探讨孕中期母血生化标志物在筛查唐氏综合征胎儿中的作用.方法用酶标定量法对孕14～20w的1580例孕妇血清中β-HCG、AFP进行检测,经过风险计算,对高危孕妇进行羊水细胞遗传学检查或/和B超检查.结果1580例孕妇中唐氏(DS)高危孕妇146例,筛出率9.24%;神经管畸形(NTD)高危孕妇42例,筛出率2.66%.在高危孕妇中4例羊水细胞培养胎儿染色体异常,1例B超诊断为胎儿脑积水.结论孕中期母血生化标志物是筛查胎儿染色体异常和神经管畸形的理想指标.     

Down′s综合征的孕中期筛查

目的　检测孕妇血清标物甲胎蛋白(AFP)、游离- β-绒毛膜促性腺激素(Free - β-HCG)进行孕中期胎儿唐氏综合征无创伤性产前筛查。方法　采用金标定量系统对孕中期(14～2 2w)妇女进行AFP、Free - β-HCG检测,并配有唐氏综合征产前筛查专用软件进行分析校正,对筛查出的先天性缺陷胎儿,在孕妇知情的情况下,选择适宜的产前诊断。结果　接受筛查的35 8名孕妇中,唐氏综合征高风险孕妇为32例,筛查阳性率为8.94 % ,其中12例接受羊水细胞培养染色体检查,占高危孕妇的37.5 % ,检出染色体异常核型4例,占高危孕妇羊水细胞培养染色体检查的33.3%。结论　利用孕妇血清AFP、Free - β-HCG进行孕中期胎儿唐氏综合征无创伤性产前筛查,对减少病残儿的出生,具有重要意义。     

唐氏综合征孕中期产前筛查与产前诊断结果分析

目的检测孕妇血清甲胎蛋白（AFP）,游离-β-绒毛膜促性腺激素（Free-β-HCG）,进行孕中期胎儿唐氏综合征的无创伤性筛查。方法采用金标定量系统对孕中期（14-22w）妇女进行AFP、Free-β-HCG检测,结合母龄、孕周、体重等因素,经专用软件进行分析校正,计算风险率,对高风险孕妇在知情的情况下,自愿选择羊膜腔穿刺,进行羊水细胞染色体核型分析。结果接受筛查的1568名孕妇中筛查出唐氏综合征高风险104例,占筛查总数的6.63%。其中62例接受羊水细胞染色体检查,占高危孕妇的59.62%。检出染色体异常核型14例,占高危孕妇接受羊水细胞培养染色体检查的22.58%。结论利用孕妇血清AFP、Free-β-HCG进行孕中期胎儿无创伤性产前筛查,结合产前诊断,对减少出生缺陷儿的出生,具有重要意义。     

基于年龄与孕周对唐氏综合征血清学产前筛查结果影响的回顾性分析

目的探讨基于年龄与孕周对唐氏综合征(Down′s syndrome,DS)血清学产前筛查结果的影响,进而据此总结DS血清学产前筛查的理想孕周。方法回顾性分析本院7958例孕15~20~(+6)w进行DS血清学产前筛查孕妇的甲胎蛋白(alpha fetoprotein,AFP)和β-人绒毛膜促性腺激素(β-human chorionic gonadotropin,β-HCG)检测结果,并对筛查高危孕妇实施羊水细胞染色体诊断,对比相同年龄段不同孕周DS的假阳性率及不同年龄段DS的风险率。结果 (1)在7958例受检孕妇中,DS高危及确诊者分别为296例和7例,筛查假阳性率3.63%。(2)孕17~18~(+6)周DS筛查的假阳性率3.16%~3.11%,明显低于孕15~16~(+6)w及孕19~20~(+6)w的假阳性率,差异有统计学意义(P0.05)。(3)DS产前筛查的风险率可随年龄增长而增加,差异均存在统计学意义(P0.05)。结论 (1)孕妇的年龄是导致DS发病的独立高危因素。(2)在孕15~20~(+6)周检测AFP和β-HCG可有效检出DS患儿,降低其出生率。(3)为了提高DS的检出率,建议血清学产前筛查在17~18~(+6)w。     

妊娠中期孕妇唐氏综合征筛查结果分析

目的探讨孕妇血清生化标志物甲胎蛋白(AFP)、绒毛膜促性腺激素(βHCG)和游离雌三醇(uE3)对孕中期孕妇进行唐氏综合征为主的先天缺陷筛查的作用。方法对孕中期(14～20w)妇女进行上述三项血清生化指标检测,经过软件计算风险,对可能影响检测结果的部分因素,如孕妇年龄、体重、孕周等加以分析校正,对高风险孕妇,进一步行羊水或脐血染色体检查及B超进行确诊。结果 1965例孕妇中,发现唐氏综合征2例,神经管缺陷1例。结论孕中期血清AFP、βHCG和uE3三项血清生化指标联合检测,对于严重先天性缺陷儿的宫内诊断具有重要的临床价值,筛查结果高危孕妇应进一步行羊水染色体或B超检查确诊,以减少缺陷儿出生。     

Mammography screening in Denmark

Mammography screening is offered healthy women, and a high standard on professional and organizational level is mandatory not only in the screening programme but even in the diagnostic work-up and treatment. The main goal is to achieve a substantial reduction in disease specific mortality, but it is not possible to evaluate the effect on mortality until several years later, and continuously monitoring of the quality of all aspects of a screening programme is necessary. Based on other European guidelines, 11 quality indicators have been defined, and guidelines concerning organizational requirements for a Danish screening programme as well as recommendations for the radiographic and radiological work have been drawn up.     

ASCUS in screening]

The significance and use of the cytological diagnosis "atypical squamous cells of undetermined significance" (ASCUS) remain a major problem in cervical cancer screening. The prevalence of ASCUS by patient age has seldom been investigated. The present paper reports the prevalence of ASCUS in a large series of screening Pap smears from the Italian region of Emilia-Romagna. The study was based on the data collected by the Department of Health of the Emilia-Romagna Region for the first 3-year round (1997-1999) of a population-based screening programme (target age, 25-64 years). The age-specific frequency of ASCUS has been calculated as a prevalence rate per 1000 screened patients. A total of 597,386 women participated in the programme. Women diagnosed with ASCUS (n = 8205 or 13.7 per 1000) accounted for 49% of the recalls for colposcopy (n = 16,871, or 28.2 per 1000). The prevalence of diagnoses of low-grade squamous intraepithelial lesions (LG-SIL) decreased progressively with age while that of high-grade SIL was slightly higher between 30 and 39 years. The prevalence of ASCUS peaked at age 45-49 years (17.3 per 1000 subjects). The observed peak reflects the prevalence of (1) cytological changes closely associated with perimenopausal age and at least compatible with the ASCUS diagnosis, and (2) cytological abnormalities induced by hormone replacement therapy.     

Human papillomaviruses in cervical screening

There is accepted evidence that a group of human papillomaviruses, designated ‘high-risk’ (HR-HPV) are found in almost all adequately studied cases of cervical cancer and are of key importance in its aetiology. The natural history of HR-HPV infection is known in general terms and the mechanism of oncogenic action and cancer development has been studied in some detail. It is also known that transient, sexually acquired cervical infection by HR-HPV is extremely common in young women, up to the age of 30 years. A persistent HR-HPV infection is necessary for the development and progression of high-grade pre-cancer. Persistent infection develops in a small percentage of women and continues beyond 30 years. These women are at risk of cervical cancer. Tests for cervical HR-HPV DNA appear to be very sensitive for high grade pre-cancer and also predict future risk of high grade pre-cancer. The tests have a very high negative predictive value for cervical cancer but do not have a high positive predictive value for high grade pre-cancer. Trials of effectiveness of HR-HPV testing in triage are in progress in the UK (TOMBOLA) and the USA (ALTS). Studies on primary screening are also in progress internationally. The cost-effectiveness and psychosocial consequences of using HR-HPV testing within screening programmes are still under investigation. Mathematical modelling is an important approach to investigating long-term consequences for cancer prevention as well as cost effectiveness. The limited data available supported by modelling exercises suggest the use of HR-HPV testing in triage will result in a small increase in effectiveness and be cost-neutral, or possibly reduce costs. HR-HPV testing could also be effective in primary screening when combined with cytological follow-up or in older women. HR-HPV testing may allow extension of screening intervals in older women, but withdrawing women over 50 years from cytological screening on the basis of a negative HR-HPV test would not seem likely to be cost effective. Public knowledge of HR-HPV is poor, and the implications of this for HR-HPV testing are unclear and of concern. More research is needed in these areas.New developments include the search for and evaluation of additional molecular markers and the use of quantitative approaches to improve the positive predictive value of molecular diagnostics, and the prospects of prophylactic vaccines and specific therapies for HR-HPV. The study of HR-HPV provides an interesting model for the development of evidence-based practice in the application of molecular pathology to disease prevention and diagnosis.