2616例孕中期孕妇的血清特异性标志物筛查结果分析

目的探讨孕中期产前筛查的临床应用价值,并探讨影响其风险值的主要因素。方法检测2616例孕中期（14～24周）孕妇血清中的甲胎蛋白（AFP）、人绒毛膜促性腺激素β亚单位（[3-HCG）和游离雌三醇（uE3）的浓度,其中AFP、β-HCG使用电化学发光法,uE3使用酶联免疫法检测;使用T21$SOFTw筛查软件评估风险。建议唐氏综合征或18-三体综合征高风险孕妇行胎儿羊水染色体核型分析,神经管缺陷高风险者接受高分辨超声检查。结果唐氏综合征、18-三体综合征、神经管缺陷高风险发生率分别为5．73％、0．34％、1．11％;高风险孕妇经产前诊断确诊唐氏综合征1例,神经管缺陷2例,其它染色体异常疾病3例。结论对孕中期孕妇进行产前筛查,是减少患染色体疾病和神经管缺陷患儿出生的有效方法;在筛查软件中应对诸多影响因素予以校正,而孕周的准确与否对筛查结果影响较大。     

孕中期母血清产前筛查全过程质量控制

孕妇血清产前筛查是通过定量测定孕妇血清中某些特异生化指标,结合孕妇的孕周、年龄等参数,运用筛查软件计算出孕妇怀有唐氏综合征（21-三体）以及爱德华综合征（18-三体）、神经管缺陷（NTD）患儿的风险。如果筛查样本处理不当或孕妇信息不准确,将导致分析结果出现假阳性或假阴性,筛查率和诊断率也难以提升［1-2］。张家口市妇幼保健院经过长期的临床实践,从人员、设备、物料、方法及环境等五个方面对产前筛查全过程进行质量控制,取得了较好的效果,现介绍如下。     

3891例孕中期妇女血清学产前筛查结果分析

目的分析3891例孕中期妇女血清学产前筛查结果。方法随机选择2016年1月-2018年12月期间在我院行产前筛查的3891例孕中期妇女作为研究对象,对所有研究对象采取电化学发光法进行血清学产前筛查,其中包括β亚基-促绒毛膜性腺激素(β-HCG)及甲胎蛋白(AFP),并分析筛查结果。结果所有研究对象的筛查结果里有3713例(95.43%)为低风险者,有178例(4.57%)为高风险者,其中18-三体综合征高风险者有34例(19.1%)、ONTD高风险者有53例(29.78%)、唐氏综合征高风险者有91例(51.12%);34例18-三体综合征高风险者有1例为染色体核型异常,53例ONTD高风险者有1例经B超确诊为ONTD,91例唐氏综合征高风险者有2例为染色体核型异常。结论对于孕中期妇女而言,血清学产前筛查可有效检测出多种较为常见的染色体异常疾病。     

2240例孕中期妇女产前筛查和产前诊断结果分析

目的 探讨影响孕中期妇女唐氏综合征(DS)、18-三体综合征、神经管缺陷(NTD)风险值的主要因素.方法 对2 240例孕14～20周孕妇定量测定血清甲胎蛋白(AFP)和游离p绒人绒毛膜促性腺激素(Fβ-HCG)含量,结合孕妇年龄、孕周等因素计算DS、18-三体综合征、NTD的风险值.结果 共筛出172例高风险孕妇,总阳性率为7.68％,其中DS、18-三体综合征和NTD风险者阳性率分别为4.33％、2.00％和1.34％.随访的2 201例产妇中,筛查高风险组妊娠不良结局发生率为6.40％,高于低风险组的1.38％ (P＜0.05).结论 年龄是影响孕中期产前筛查结果的主要因素.产前筛查是预测妊娠不良结局的有效手段,对预防先天缺陷儿的出生有重要临床应用价值.     

2207例孕中期妇女产前筛查结果分析

目前产前筛查的主要疾病是唐氏综合征、开放性神经管缺陷和18-三体综合征。据统计,我国大城市中约有1/5～1/4的新生儿围生期死亡是由于出生缺陷造成的,每年大约有2万至3万缺陷儿出生,缺陷儿的出生带给家庭精神上的负担和感情上的伤害是无法估量的,因此预防和避免缺陷儿的出生,必须做到产前早筛查、早诊断、及时终止妊娠。笔者对2207例孕中期妇女产前筛查结果进行了分析,现将结果报道如下。资料与方法     

孕中期产妇出生缺陷筛查的临床研究

目的了解486例孕中期产妇3种主要出生缺陷(神经管畸形、21-三体、18-三体)的检出情况。方法采用罗氏全自动发光免疫分析仪,对486例孕中期产妇进行甲胎蛋白(AFP)、绒毛膜促性腺激素(HCG)、游离雌三醇(uE3)的检测。结果所检测孕中期产妇中,21-三体高危儿6例,神经管畸形3例,18-三体0例。占出生缺陷筛查总人数的阳性率为1.85%;其中,年龄35岁及以上孕中期产妇,21-三体高危儿4例,神经管畸形2例,占总筛查人数的阳性率为1.23%,占总阳性率的66.7%。结论孕中期产妇患出生缺陷的风险率较高,对其进行出生缺陷指标的筛查,临床价值较大。     

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。     

1324例孕中期妇女产前筛查的调查分析

目的 从普通孕妇群体中发现有唐氏综合征(DS)和开放性神经管缺陷(NTD)的高危孕妇,最大限度地减少先天缺陷患儿的出生。方法 对2011~2013年于该院门诊进行新生儿风险评估的怀孕13~21周的孕1 324例采用化学发光法定量检测血清甲胎蛋白(AFP)、绒毛膜促性腺激素β亚单位(Free-βHCG)的浓度值,然后进行风险评估,对筛查出的阳性结果进行分析。结果 在检测的1 324例孕妇中,DS高风险者52例,占总检测人数的3.93%;NTD高风险者53例,占总检测人数的4.00%。结论孕妇孕中期进行产前筛查,减少出生缺陷,对优生工作具有重要意义。     

2123例孕中期孕妇胎儿唐氏综合征的产前筛查结果分析

目的探讨孕妇血清标志物在孕中期（14～21周）进行产前孕妇胎儿唐氏综合征（Ds）筛查的临床意义。方法用化学发光免疫法对2123例孕中期孕妇血清进行总绒毛膜促性腺激素8亚单位（13-HCG）和甲胎蛋白（AFP）两项指标检测,用专用风险分析软件进行数据计算分析。结果DS筛查阳性111例,风险阳性率5．23％。结论孕妇孕中期进行产前筛查,对筛查出的高危孕妇再进行羊水染色体分析确诊,即减少了盲目的侵入性产前诊断,又减少了出生缺陷,对优生工作具有重要意义。     

孕中期孕妇产前筛查结果分析

目的探讨孕中期产前筛查的临床应用价值。方法测定11 909例孕中期孕妇血清标志物甲胎蛋白（AFP）和人绒毛膜促性腺激素（β-HCG）值,采用Auto DELFIA 1235全自动免疫分析系统得出唐氏综合征、18-三体综合征、神经管缺陷（NTD）三种疾病的风险值,高风险者采用胎儿羊水染色体核型分析以及三维B超进行确诊。结果筛查的11 909例孕妇中,高风险孕妇1976例,阳性率为16.59%,经染色体检查或三维B超诊断,确诊唐氏综合征9例,18-三体综合征3例,NTD 0例,其他缺陷异常10例。结论对孕中期孕妇进行产前筛查是减少染色体疾病和神经管缺陷患儿出生的有效方法。     

河源地区孕中期唐氏综合症血清筛查结果分析

目的：探索河源地区孕妇唐氏综合症的风险状况,分析孕中期唐氏综合症筛查在预防出生缺陷中的临床价值。方法用时间分辨法检测5297例孕中期(14~20+6)母体血清的甲胎蛋白(AFP),游离绒毛膜促性腺激素(Free-βHCG)和游离雌三醇(uE3)浓度,结合孕周、年龄和体重,运用专业的产筛软件进行胎儿风险评估。结果筛查的5297例孕妇中,唐氏综合症高危362例,阳性率为6.83％;神经管缺陷(NTD)高危24例,阳性率为0.45％;18-三体综合症高危23例,阳性率为0.43％;35岁以上者总阳性率高于35岁以下者(P<0.05)。结论孕中期血清学“三联法”(AFP+Free-βHCG+uE3)筛查胎儿唐氏综合症是一种无创性手段,普遍开展唐氏综合症筛查可预防出生缺陷,提高出生人口素质。     

The maternal self in pregnant women undergoing maternal serum screening

Background. Much has been written about the anxiety of pregnant women undergoing maternal serum screening, but little has focused on the maternal self. Aims. The purpose of this study was to explore how the maternal self was affected by abnormal results of prenatal screening. Design. A qualitative design was used, based upon a grounded theory method. Methods. Twenty‐seven women undergoing maternal serum screening engaged in qualitative interviews about how abnormal results affected them and their family life. Results. This study identified three forms of maternal self in women who had been informed of abnormal results of maternal serum screening. The three forms of maternal self could be described as self‐stigmatizing, self‐conflicting and self‐knowledgeable. Conclusion. The self‐stigmatizing and self‐conflicting resulted from painful body image. The pregnant women responded to this vulnerability by reflecting on their experiences and constituting self‐knowledgeable. Relevance to clinical practice. This study demonstrated that ethical issues were implicit in prenatal counselling in terms of various forms of maternal self. Understanding the self‐perceptions of pregnant women coping with an increased risk of Down Syndrome could be very significant in delivering prenatal genetic counselling.     

The trick of probabilities: pregnant women's interpretations of maternal serum screening results in Japan

Abstract  This study aimed to explore how pregnant Japanese women interpret maternal serum screening test results presented as probabilities and to consider the possible methods to improve women's understanding of the results. Semi-structured interviews were conducted with 15 women. Data collection and analysis were performed concurrently, based on the grounded theory approach. We showed that the participants interpreted the test results using various criteria, including information from obstetricians, previously experienced risk probabilities, subjective interpretations, and comparisons with other women. The explanations given by health-care professionals affected the participants' interpretation of the probability of risk and their recognition of false-negative results. Therefore, health-care professionals should explain the meaning of the probability test results and confirm how women interpret them.     

孕中期产前筛查母血清标志物中位数倍数的应用

目的:对嘉定地区孕中期孕妇甲胎蛋白(alpha fetoprotein,AFP)、人绒毛膜促性腺激素(β-human chorionic gonadotrophin,β-hCG)、游离雌三醇(unconjugated estriol,uE3)的中位数倍数(MoM)筛查结果进行回顾性分析,探讨在筛查可能孕唐氏综合征等患儿的孕妇时校正上述血清指标MoM的必要性。方法:选取1298例孕妇(孕周为15～21周)构建血清AFP、β-hCG、uE3中位水平与孕周间的回归关系,得到指标中位浓度,并对MoM值与体重的关系运用倒数模型回归得到体重校正后的MoM值。结果:结果显示孕周与3个血清指标水平的MoM值间无相关性(AFP:r=-0.045,P=0.102;β-hCG:r=-0.006,P=0.821;uE3:r=-0.042,P=0.132)。在未经体重校正的条件下,嘉定地区孕中期孕妇的AFP中位水平比软件内嵌的AFP参考值水平要低16.4%,β-hCG要高14.1%,uE3要高6.3%;软件计算的AFP MoM值中位数为0.78,β-hCG的MoM值中位数为1.02,uE3的MoM值中位数为1.03。经体重校正后的血清AFP、β-hCG、uE3的MoM值中位数分别为0.99、0.98和0.98,其中AFP、uE3的MoM值中位数在体重校正前、后的差异有统计学意义(P均<0.05)。结论:嘉定地区孕中期妇女的血清AFP、β-hCG、uE3中位水平与应用软件内嵌初始参数有显著差异,实验室在进行产前筛查时应建立适合于本室的产前筛查指标水平。     

中孕胎儿B超常规检查的临床探讨

目的探讨中孕胎儿B超常规检查的重要性及操作程序。方法按照常规的检查顺序,应用多个切面对孕周24～28周的胎儿进行超声检查。结果对8317例中孕期妇女进行常规超声检查,检出110例胎儿异常,其中颅脑、中枢神经系统畸形27例,胎儿水肿综合征24例,心脏畸形20例,消化系统畸形14例,单脐动脉6例,肢体畸形5例,唇腭裂5例,下腹部肿块2例,多发性畸形3例,膈疝2例,泌尿系统畸形2例。超声结果与追踪结果相符。结论中孕胎儿B超常规检查是围产期检查中的重要手段,对提高胎儿畸形的检出率,减少畸形儿的出生具有重要意义。     

Genetic sonography: an option for women of advanced maternal age with negative triple-marker maternal serum screening results.

OBJECTIVE: To determine whether offering genetic sonography to patients 35 years of age and older with negative maternal serum triple-marker screening results will result in an increase in the detection rate of trisomy 21. METHODS: The detection rate of trisomy 21 was determined in women 35 years of age and older whose pregnancies were managed according to the following 3 policies: policy I, universal amniocentesis; policy II, maternal serum triple-marker screening followed by amniocentesis only in high-risk women (risk >1:190); and policy III, genetic sonography in women with negative maternal serum screening results (policy II). Policy III included the offering of genetic amniocentesis to patients with abnormal genetic sonographic findings. The rate of acceptance of genetic amniocentesis was modeled, as was the sensitivity (50%-90%) and false-positive rate (5%-25%) of genetic sonography. RESULTS: The number of fetuses expected to have trisomy 21 was 784. For patients evaluated under policy II, 86.3% of fetuses with trisomy 21 were detected. On the basis of the detection rate for trisomy 21 of policy II, the addition of fetuses with trisomy 21 identified under policy III was significantly (P < .01) increased (93.2% to 98.6%) for genetic sonographic sensitivities ranging between 50% and 90%. CONCLUSIONS: A policy of offering genetic sonography followed by amniocentesis to patients 35 years of age and older who originally had triple-marker maternal serum screening findings that were negative for the diagnosis of trisomy 21 results in a higher overall detection rate of trisomy 21.     

米非司酮对中期妊娠胎盘的影响

目的　探讨米非司酮对中期妊娠胎盘结构及功能的影响。方法　选择妊娠14~28周主动要求终止妊娠的40例孕妇,随机分为2组。实验组20例,口服米非司酮50mg, 1次/12h,连服3次,末次服药后12h行利凡诺羊膜腔内注射引产;对照组20例,直接行利凡诺羊膜腔内注射引产。均于用药前和羊膜腔内注药后24h抽静脉血3ml,用放免法检测血清雌二醇、孕酮、人绒毛膜促性腺激素β亚单位(βhCG)水平。并于引产后取胎盘行病理学检查及形态计量。结果　实验组血清孕酮、βhCG明显低于对照组(P<0. 01),但血清雌二醇无明显变化(P>0. 05)。实验组胎盘有明显缺血、缺氧性表现,合体细胞结节及纤维素样坏死绒毛的百分率明显增加(P<0. 01)。结论　米非司酮对中期妊娠胎盘的结构和功能有一定程度的有害影响。     

Detailed ultrasound screening in the second trimester: pictorial essay of normal fetal anatomy

Today, ultrasound is the main diagnostic tool in the prenatal detection of congenital abnormalities. Therefore, ultrasound examination should be offered to all pregnant women. A detailed sonographic examination of the fetus is usually performed between 18 and 22 weeks of pregnancy. The accurate recognition of normal fetal anatomy is very important for the detection of both minor and major defects. The purpose of this pictorial essay is to show fetal anatomic structures, which have to be examined between the 18(th) and 22(nd) weeks of pregnancy, and present their standard measurements systematically and thoroughly in accordance with sonographically obtained ideal sections.