不同方法在唐氏综合征产前筛查中的比较研究

目的：比较不同时期二联筛查与传统孕中期二联筛查在唐氏综合征产前筛查中的效果。方法：采用罗氏电化学检测技术,对1289例同意接受产前筛查的孕妇及5例已确诊的唐氏综合征妊娠孕妇的冻存血清标本在孕周11-14周的孕妇测定PAPP—A、Free8-HCG,再于孕16-20周检测AFP、B—HcG浓度,分别计算不同时期二联筛查和传统孕中期二联筛查的风险值、检出率和假阳性率。结果：本研究中孕早期栓出唐氏综合征高风险孕妇21例,孕中期检出高风险孕妇31例,其中包括一期高风险孕妇20例,共检出高风险孕妇32例,31例接受了羊膜腔穿刺检查,产前确诊1例,阳性率值为3．2％。32例筛查病例中,30-40岁者16例占（50．00％）,可见高龄孕妇是唐氏综合征的危险人群。当截断值为1：270时,三联筛查与二联筛查对唐氏综合征的检出率均为65．2％;当截断值为1：380时,不同时期二联筛查的检出率明显高于孕中期传统二联法（p〈0．05）o结论：在孕妇不同时期进行二联筛查是更有效的唐氏综合征筛查方法,有必要制定适合本地区人群的风险切割值,以提高产前筛查的筛查效率。     

妊娠中期产前筛查对唐氏综合征的临床意义

目的评估妊娠中期产前筛查对唐氏综合征(DS)的临床意义。方法所有入选的2 354例孕妇进行人绒毛膜促性腺激素-β(β-HCG)、甲胎蛋白(AFP)、游离雌三醇(uE3)三个标记物的检测,检测DS高风险率并发现其与孕妇年龄等的相关性。结果所有入选的2 354例孕妇中,DS高风险例数为92例,筛选阳性率为3.91%;年龄大于35岁组孕妇阳性率(9.3%)显著高于其他各年龄组,与其他各年龄组DS高风险阳性率比较差异有统计学意义(P<0.05)。DS高风险组胎儿异常发生率要显著高于低风险组,差异有统计学意义(P<0.05)。结论β-HCG、AFP、uE3三联标记物对检测DS阳性筛查率效果明显,高龄产妇的DS阳性筛查率显著增高。     

Model‐Predicted Performance of Second‐Trimester Down Syndrome Screening With Sonographic Prenasal Thickness

Objective. The purpose of this study was to estimate the Down syndrome detection and false‐positive rates for second‐trimester sonographic prenasal thickness (PT) measurement alone and in combination with other markers. Methods. Multivariate log Gaussian modeling was performed using numerical integration. Parameters for the PT distribution, in multiples of the normal gestation‐specific median (MoM), were derived from 105 Down syndrome and 1385 unaffected pregnancies scanned at 14 to 27 weeks. The data included a new series of 25 cases and 535 controls combined with 4 previously published series. The means were estimated by the median and the SDs by the 10th to 90th range divided by 2.563. Parameters for other markers were obtained from the literature. Results. A log Gaussian model fitted the distribution of PT values well in Down syndrome and unaffected pregnancies. The distribution parameters were as follows: Down syndrome, mean, 1.334 MoM; log₁₀ SD, 0.0772; unaffected pregnancies, 0.995 and 0.0752, respectively. The model‐predicted detection rates for 1%, 3%, and 5% false‐positive rates for PT alone were 35%, 51%, and 60%, respectively. The addition of PT to a 4–serum marker protocol increased detection by 14% to 18% compared with serum alone. The simultaneous sonographic measurement of PT and nasal bone length increased detection by 19% to 26%, and with a third sonographic marker, nuchal skin fold, performance was comparable with first‐trimester protocols. Conclusions. Second‐trimester screening with sonographic PT and serum markers is predicted to have a high detection rate, and further sonographic markers could perform comparably with first‐trimester screening protocols.     

Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: A new basis for gestational Down syndrome screening

BACKGROUND: Serum human chorionic gonadotropin (hCG) and hCG free beta-subunit tests are used in combination with unconjugated estriol and alpha-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: approximately 40% for hCG or free beta-subunit alone, approximately 60% for the triple screen test, and approximately 70% for the quadruple marker test, all at 5%, or a relatively high, false-positive rate. New tests are needed with higher detection and lower false rates. Hyperglycosylated hCG (also known as invasive trophoblast antigen or ITA) is a new test. It specifically detects a unique oligosaccharide variant of hCG associated with Down syndrome pregnancies. We evaluated this new Down syndrome-directed test in prenatal diagnosis. METHODS: Hyperglycosylated hCG was measured in urine samples from women undergoing amniocentesis for advanced maternal age concerns at 14-22 weeks of gestation, 1448 with normal karyotype and 39 with Down syndrome fetuses. RESULTS: The median hyperglycosylated hCG value was 9.5-fold higher in Down syndrome cases (9.5 multiples of the normal karyotype median). The single test detected 80% of Down syndrome cases at a 5% false-positive rate. Urine hyperglycosylated hCG was combined with urine beta-core fragment (urine breakdown product of serum hCG free beta-subunit), serum alpha-fetoprotein, and maternal age-related risk. This urine-serum combination detected 96% of Down syndrome cases at a 5% false-positive rate, 94% of cases at a 3% false-positive rate, and 71% of cases at a 1% false-positive rate. These detection rates exceed those of any previously reported combination of biochemical markers. CONCLUSIONS: Hyperglycosylated hCG is a new base marker for Down syndrome screening in the second trimester of pregnancy. The measurement of hyperglycosylated hCG can fundamentally improve the performance of Down syndrome screening protocols.     

陕西地区26 140份孕中期唐氏综合征筛查报告分析

目的探讨孕中期唐氏综合征筛查报告各指标不同孕周变化趋势和影响因素,建立该地区孕中期不同孕周指标参考区间及中位数参考值,提高筛查效率。方法选取2015年1月至2019年12月在陕西省人民医院行孕中期唐氏综合征产前筛查的26 140例自然妊娠孕妇为研究对象,记录血清生化甲胎蛋白(AFP)、游离雌三醇(uE3)、绒毛膜促性腺激素(HCG)水平,描述不同孕周孕妇筛查指标的参考区间及中位数。结合产前检查资料用软件评估计算21-三体综合征(DS)、18-三体综合征(ES)、开放性神经管缺陷(NTD)风险率,并分析不同年龄、不同体质量、不同孕周孕妇DS、ES、NTD检出情况的差异。结果初步建立了该地区的孕中期不同孕周血清DS筛查指标参考区间及中位数参考值,AFP、uE3水平从孕14~21周逐步上升而HCG值从孕14~21周逐步降低。26 140例孕妇中DS高风险1 841例(7.04%)、ES高风险166例(0.64%)、NTD高风险456例(1.74%)。不同年龄组间孕妇DS、ES筛查高风险率差异有统计学意义(P<0.05),且年龄>35岁组的孕妇DS、ES筛查高风险率高于其他年龄组(P<0.05),而不同年龄组间孕妇NTD筛查高风险率差异无统计学意义(P=0.12);不同体质量组孕妇DS、ES筛查高风险率差异有统计学意义(P<0.05),而不同体质量组孕妇NTD筛查高风险率差异无统计学意义(P=0.62),体质量>65kg组的孕妇DS、ES筛查高风险率高于其他体质量组(P<0.05);不同孕周组孕妇DS、ES、NTD筛查高风险率差异有统计学意义(P<0.05)。DS筛查高风险率在孕14、15周与其他孕周(16~21周)间差异有统计学意义(P<0.05);ES筛查高风险率在孕14、15周与孕16~19周间差异有统计学意义(P<0.05),而NTD筛查高风险率仅在孕15周和19周间差异有统计学意义(P<0.05)。结论建立该地区孕中期不同孕周血清唐氏综合征筛查指标参考区间及中位数参考值意义重大;高龄及高体质量孕妇患DS、ES的风险提高,育龄妇女应把握生育年龄并做好体质量管理;最佳唐氏综合征筛查的孕周时机为孕16~18周。     

某市孕中期产前筛查诊断结果分析

目的：通过对孕中期孕妇进行产前筛查及产前诊断,探讨其临床应用价值。方法对于35岁以下的孕妇,采用化学发光分析系统,测定孕中期（15～20＋6周）血清中甲胎蛋白（A FP ）、游离β人绒毛膜促性腺激素（Freeβ-HCG）及游离雌三醇（uE3）的浓度。采用配套风险评估软件计算出唐氏综合征（21-三体）、爱德华综合征（18-三体综合征）和神经管缺陷（ONTD）的风险值。筛查高风险者进行羊水穿刺确证。适应羊水穿刺及年龄大于或等于35岁的孕妇在知情同意的情况下直接进行产前诊断并行羊水穿刺。结果年龄小于35岁的孕中期孕妇2117例中筛查出高风险145例,筛查阳性率6．8％。其中有124例经过羊水培养对胎儿染色体进行分析,检查出1例唐氏综合征、1例18-三体综合征以及3例其他染色体异常。69例年龄大于或等于35岁的及51例适应羊水穿刺的孕妇中发现8例染色体异常。结论遂宁市孕中期产前筛查异常率高,为有效预防和减少出生缺陷,在孕中期进行产前筛查诊断意义重大。     

唐氏综合征筛查的临床效果评价

目的：探讨唐氏综合征产前筛查的应用价值。方法：采用罗氏化学发光法对596例孕妇孕早期（一期）开展妊娠相关蛋白A（PAPP-A）和游离β人绒毛膜促性腺激素（Freeβ-HCG）,孕中期（二期）项目开展甲胎蛋白（AFP）和β人绒毛膜促性腺激素（β—HCG）的筛查,对高风险孕妇行羊水胎儿细胞染色体核型分析,并给予确诊。随访直至产后2个月。结果：596例患者进行筛查,一期筛查中出现15例唐氏综合征高风险孕妇,二期筛查中出现27例高风险孕妇,其中包括一期筛查中的13例。在29例唐氏综合征高风险孕妇中,35岁以上者18例,确诊1例,随访至产后2个月,其他所有患者均未见唐氏综合征患儿,检出率为100％。结论：在不同孕期分别开展唐氏综合征的产前筛查及诊断,筛出率高,可有效避免缺陷胎儿的出生。     

Second‐Trimester Genetic Sonography After First‐Trimester Combined Screening for Trisomy 21

Objective. The purpose of this study was to evaluate the trisomy 21 screening performance of the first‐trimester combined test followed by second‐trimester genetic sonography. Methods. This retrospective cohort study included all women with singleton pregnancies undergoing combined screening followed by genetic sonography at 17 to 21 weeks from January 1, 2005, to January 31, 2008. Combined test trisomy 21 risks were multiplied by positive or negative likelihood ratios based on the second‐trimester sonographic findings to determine the final trisomy 21 risk. Sonography was evaluated as the second part of (1) a stepwise sequential test applied to combined screen‐negative pregnancies and (2) an integrated test applied to all combined screen patients regardless of the latter results. A final trisomy 21 risk of 1:270 or higher was considered screen‐positive. Results. A total of 2231 pregnancies underwent combined screening, which detected 7 of 8 Down syndrome cases (87.5%) at a 9.6% screen‐positive rate. A total of 884 of these patients (39.6%), including 2 having fetuses with Down syndrome, had genetic sonography. Combined screening detected 1 of these trisomy 21 fetuses (50%) at a 15.7% screen‐positive rate. Integrated ultrasound‐based aneuploidy screening detected both trisomy 21 cases (100%) at a 22.7% screen‐positive rate, whereas stepwise sequential ultrasound‐based aneuploidy screening also detected both trisomy 21 fetuses (100%) but at a 28.3% screen‐positive rate (P < .0001). Conclusions. Second‐trimester genetic sonography after first‐trimester combined screening may improve trisomy 21 detection at the expense of increasing screen‐positive rates.     

基于患者标本的唐氏综合征产前筛查自动化校正方案探讨

目的：探讨基于患者标本的孕中期血清三联唐氏综合征产前筛查自动化校正方案,旨在建立更有效的唐氏综合征产前筛查质量保证体系。方法：对本院2014年的13 024例孕中期孕妇的唐氏征筛查中位数倍数（multiple of medians, MoM）,运用累积和批次校正法进行校正,采用校正中位数倍数中值（median of multiple of medians, mMoM）在0.90~1.10之外的批次（方案一）和校正中位数倍数中值（mMoM）在0.95~1.05之外的批次（方案二）这2种方案得到的MoM值,重新评估孕妇胎儿发生唐氏综合征的风险。结果：采用方案一和方案二2种校正方案分别能把mMoM在0.90~1.10和0.95~1.05的百分比由校正前的64%和90%,提升到校正后的67%、99%和85%、99%。13 024例孕妇的唐氏综合征检出率和阳性率在原始方案和2种校正方案中差异不大。结论：对于孕中期血清三联唐氏综合征产前筛查,临床实验室可考虑在当前质控方案基础上增加自动化校正方案。     

Sonographic screening for fetal aneuploidy: first trimester.

Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. We reviewed available literature regarding first‐trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false‐positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester The 2 maternal serum markers that appear to be most useful in the late first trimester are the free beta subunit of human chorionic gonadotropin and pregnancy‐associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false‐positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false‐positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first‐ and second‐trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first‐trimester screening remain. We address some of these questions: is first‐trimester screening more effective than second‐trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first‐trimester screening cost‐effective? How should first‐trimester screening be interpreted with second‐trimester tests? Despite encouraging data and general enthusiasm for first‐trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.     

孕中期孕妇体重对血清指标MoM值和三联筛查结果的影响

目的验证复旦大学附属妇产科医院实验室对孕妇体重校正方法的有效性,并研究孕妇体重对孕中期三联筛查的影响。方法收集孕中期唐氏综合征筛查标本单妊娠28 577例,采用化学发光免疫分析技术检测血清甲胎蛋白(AFP)、人绒毛膜促性腺激素β亚基(β-h CG)、和游离雌三醇(u E3)的浓度,通过回归体重校正参数,得到体重校正的Mo M值,计算唐氏综合征、爱德华氏征和神经管缺陷风险。结果最合适本实验室的体重校正模型是倒数模型,使用该校正模型,比不校正体重多检出2例21三体的检出率,检出率从65%提高到76%。结论通过体重校正消除体重对血清标志物含量的影响,进一步提高21三体检出率。各个实验室需要根据当地人群建立自己的体重公式,可以更准确报告唐氏综合征、爱德华氏征和神经管缺陷的风险度。     

Screening for trisomy 21 during the routine second-trimester ultrasound examination in an unselected Chilean population.

OBJECTIVE: To evaluate the performance of a detailed ultrasound examination during the second trimester as a screening test for Down syndrome in an unselected Chilean population. METHODS: This was part of an ongoing longitudinal study. Included were 3071 women with singleton pregnancies who underwent routine ultrasound examination between 21 + 0 and 25 + 6 gestational weeks as a screening test for chromosomal abnormalities and major congenital structural defects, and who were diagnosed as having trisomy 21 or being chromosomally normal. Maternal age, and eight soft markers and cardiac defects associated with Down syndrome were evaluated as a screening test using logistic regression analysis. RESULTS: The incidence of Down syndrome was 0.6%, and the mean maternal age was 29.4 +/- 6.2 years. At least one of four soft markers (absent nasal bone, nuchal edema, short femur, echogenic foci) and/or cardiac defects was present in 77.8% of Down syndrome fetuses and in 3.1% of normal fetuses. Furthermore, with a false-positive rate of 1%, the detection rate using the combined model of ultrasound markers and maternal age was 72.2%. CONCLUSIONS: Second-trimester ultrasound markers are able to detect over 70% of Down syndrome fetuses with only a 1% false-positive rate.     

Maternal serum invasive trophoblast antigen and first-trimester Down syndrome screening

BACKGROUND: In the United States, Down syndrome screening is still performed mainly in the second trimester, using 3 or 4 markers. Moving screening into the first trimester has the advantage of earlier diagnosis. Currently, first-trimester screening typically includes maternal serum pregnancy-associated plasma protein-A (PAPP-A), the free beta-subunit of human chorionic gonadotropin (free beta), and ultrasound measurement of nuchal translucency thickness (NT). The current report describes a case-control study of serum invasive trophoblast antigen (ITA) and its possible inclusion in first-trimester screening for Down syndrome. METHODS: As part of an earlier observational study, serum samples from 54 Down syndrome and 276 matched unaffected pregnancies were collected between 9 and 15 weeks of gestation. Samples had been aliquoted and stored at -20 degrees C for 8 years. ITA was measured and converted to weight-adjusted multiples of the median (MoM). The distributions of other first-trimester markers are from a single published study. RESULTS: Median ITA MoM in Down syndrome pregnancies increase as gestational age increases (2.02 MoM at 11 and 2.44 MoM at 13 completed weeks). At 75% detection, maternal age in combination with ITA and PAPP-A measurements have an 8.0% false-positive rate, slightly lower than the 8.8% found for the free beta and PAPP-A combination; adding NT measurements reduces false positives for the 2 combinations to 2.0% and 1.8%, respectively. CONCLUSION: Serum ITA appears to be a useful first-trimester Down syndrome marker that could replace free beta measurements while maintaining performance.     

5695例孕中期唐氏综合征血清学筛查结果的分析

目的 通过分析5 695例孕中期妇女的血清学筛查结果,探讨贵州地区孕中期妇女唐氏筛查的意义.方法 对贵州地区孕14周～20+6周的孕妇进行产前血清AFP和总β-hCG浓度的检测,结合孕周、年龄、体质量等因素进行风险评估.对高风险者行羊水细胞染色体分析.结果 5 695例孕妇筛查出唐氏综合征高风险249例,检出率4.37%;经染色体核型检查84例,确诊异常6例,阳性率7.14%.本次研究汉族唐氏综合征阳性率为4.1%(188/4 663);少数民族为4.6%(47/1 032),两者比较差异无统计学意义(P>0.05).≥35岁的孕妇唐氏综合征阳性率(28.8%)明显高于年龄低于35岁的孕妇(5.1%),差异有统计学意义(P<0.05).孕妇的孕周、体质量及年龄与血清AFP和总β-hCG浓度有相关性(P<0.01).结论 唐氏筛查的结果和孕妇的年龄、孕周、体质量及是否吸烟均有关系.因此要准确地收集患者的资料,以取得可靠的评估结果.     

质量管理在新生儿遗传代谢病筛查中的影响研究

目的：分析中孕期女性的遗传代谢病筛查管理的特点,并分析管理方法以及质量优化方法。方法：将我院中2014年至2020年收入的孕妇的基本资料以及产前筛查数据进行分析,本次研究以遗传代谢病中最常见的唐氏综合征为例。本文中选择1000名接受新生儿遗传代谢病筛查的孕妇作为研究对象,进行随机两组均分,单组设置500名,按要求记录为对照组与实验组,对照组采用常规质控管理,实验组采用优质筛查质量管理,分析结果中孕妇的唐氏综合征漏检率,分析差异。结果：在本次研究结果中显示相较于对照组来说,实验组内产妇的唐氏综合征漏检率明显更低,数据进行对比分析后差异显著(P＜0.05)。在本次研究结果中显示相较于对照组来说,实验组中患者对于检验工作的满意度明显更高,差异对比显著(P＜0.05)。研究结果中发现对照组中产妇的检验样本合格率为358(71.60%),低于实验组的426(85.20%),差异对比显著存在(P＜0.05)。结论：在临床上女性妊娠期间,唐氏综合症属于一种常见的遗传代谢病,而为了避免这一疾病的发生,医务人员需要选择有效的质量管理方式,使其管理质量得到提升,进而保障我国优生优育工作的顺利开展。     

孕中期唐氏综合征的血清学二联与三联产前筛查的比较分析

目的比较妊娠中期孕妇血清甲胎蛋白（AFP）、游离β人绒毛膜促性腺激素（fβ-hCG）二联和AFP、fβ-hCG及游离雌三醇（uE3）三联筛查对唐氏综合征（DS）的检出价值。方法采用时间分辨荧光免疫法测定6 094例单胎孕妇血清AFP、fβ-hCG及uE3,应用Risks 2T分析软件,分别采取二联和三联筛查方案评估胎儿DS风险度。分析两种筛查方法的筛查阳性率、检出率和假阳性率。结果二联及三联筛查的阳性率分别为7.89%（481/6 094）和5.35%（326/6 094）,差异有统计学意义（P〈0.05）。二联筛查DS检出率为71.43%（5/7）,假阳性率为7.82%（476/6 089）;三联筛查DS检出率为85.71%（6/7）,假阳性率为5.26%（320/6 088）。三联筛查DS风险度均高于二联筛查（P〈0.05）。结论孕中期血清学三联筛查对DS的检出优于二联筛查。     

孕中期唐氏筛查及诊断的结果分析

目的 探讨女性妊娠中期唐氏筛查对宫内诊断的临床价值以及对不同年龄段的异常率差异分析.方法 采用磁微粒化学发光法对14 742例妊娠中期女性进行血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(f-β-HCG)和游离雌三醇(uE3)检测,并计算风险值.结果 621例孕妇筛查结果为高风险,阳性率为4.21%,检出NTD高风险孕妇378例,筛查阳性率为1.40%,检出爱德华综合征(Es)高风险孕妇36例,筛查阳性率为0.24%(36/14 742),在不同年龄的高风险分组中,大于或等于35岁组与其他组别作统计比较,唐氏综合征(Ds)风险率差异有统计学意义(P<0.05),各年龄组胎儿神经管缺陷(NTDs)风险率差异无统计学意义(P>0.05).结论 产前筛查对于宫内诊断具有重要的临床价值,高风险对产前诊断起重要的指导作用.     

First-trimester Down syndrome screening in women younger than 35 years old and cost-effectiveness analysis in Taiwan population

Objectives  Outcome of the first-trimester Down syndrome screening in younger population was less reported before. We present the outcome of this screening in Taiwanese women younger than 35 years old. We also test whether or not the first-trimester Down syndrome screening of women <35 years of age and women >35 years old routinely receiving amniocentesis is cost-effective compared with all pregnant women screened with this test in the setting of increased maternal age.
Methods  From 1999 to 2007, the first-trimester Down syndrome screening including nuchal thickness, pregnancy-associated plasma protein A and free β-hCG are provided to 10 811 singleton women <35 years of age with the cut-off of 1/270. A cost-effectiveness analysis of young women receiving this screening and older women undergo amniocentesis versus all women undergo this screening was performed in Taiwan population from 1987 to 2006, in which advanced age pregnancies increased from 2.8% to 11.6% of total pregnancies.
Results  Detection rates of trisomy 21, trisomy 18, Turner syndrome and other chromosome anormalies in women <35 years of age are 87.5% (14/16), 50% (2/4), 80% (8/10) and 63% (12/19), respectively, with a false-positive rate of 5.5% (590/10 811). As advanced age pregnancies reached 11.6%, the average cost per one case averted for all women screened ranged from $77 204 to $98 421, while the cost ranged from $99 647 to $116 433 for only women <35 years of age receiving this screening.
Conclusions  In an aging population, the first-trimester Down syndrome screening should be implemented for all pregnant women when it is available.     

8659例孕中期母血清产前筛查结果分析

目的 通过对近3年佛山市禅城区中心医院孕中期母血清筛查结果进行回顾性分析,了解佛山地区产前筛查出生缺陷检出情况,为减少出生缺陷、提高生育质量提供依据.方法 采用时间分辨荧光法测定母血清三联标志物（AFP、Free β-hCG、uE3）,通过产前筛查专用计算软件2T-Risks进行分析计算,并建议对高风险人群进行B超检查及羊水穿刺分析.结果 筛查8659例对象中发现高风险孕妇639例,发生率为7.38%,其中唐氏综合征（Down,s syndrome,DS）高风险81例,爱德华兹综合征（18-三体综合征）高风险22例,神经管畸形（NTD）高风险79例,年龄高风险457例,确诊唐氏综合征（DS）8例,爱德华兹综合征（18-三体综合征）3例,神经管畸形（NTD）7例,死胎1例,其他胎儿畸形3例.对低风险人群进行随访,未发现有胎儿出现畸形等出生缺陷情况,未出现假阴性.结论 孕中期母血清产前筛查可明显减少胎儿出生缺陷,孕中期母血清产前筛查结合B 超及羊水穿刺检查可提高出生缺陷的检出率,可作为减少出生缺陷的重要手段.     

Maternal serum screening for Down syndrome--opinions on acceptance from Swedish women

BACKGROUND: Different screening procedures are becoming an important part of health care. Information about screening and its consequences can be difficult to both impart and understand. This study examined women's theoretical acceptance of a new screening procedure, before its introduction. METHODS: A group of women (n = 823), who had made an informed choice about the form of foetal diagnosis they wished for, were also asked, in a questionnaire, about their opinion on the acceptability of serum screening for Down syndrome. The main purpose of the this was to ascertain their feelings when making a choice. RESULTS: Replies were received from 80.4%. The answers indicated that serum screening would be acceptable to 86% of the women who had chosen a second trimester ultrasound examination. Of the women who had chosen amniocentesis, 51% would consider the test acceptable as a first alternative. CONCLUSIONS: The ease with which the women were able to make their choice of prenatal diagnosis had bearing on their degree of acceptance of serum screening for Down syndrome.