Validity of Different Methods to Prenatal Screening for Down’s Syndrom During First and Second Trimester Pregnancy of Chinese Women

Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.

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

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.

Value of α-fetoprotein,β-HCG, inhibin A, and UE3 at second trimester for earlyscreening of preeclampsia

Objective: To study the value ofα-fetoprotein (α-FP),β-human chorionic gonadotropin (β-HCG), inhibin A, and uncojugated estriol (UE3) at the second trimester for early screening of preeclampsia. Methods: This cohort study was performed on 1713 consecutive pregnant women with gestational age from 15 to 18 weeks. We measured the serum levels ofα-FP, β-HCG, inhibin A, and UE3 and they were followed-up for 48 h after delivery. Results: A total of 1713 women were recruited and through the study 151 women (8.8%) were diagnosed with preeclampsia (n=123, 21.5% in the pregnant women with high risk, n=28, 2.5% in the pregnant women with low risk;P<0.0001). The area under receiver operating characteristic curve was estimated to be 2.39 MOM forα-FP, 2.84 MOM forβ-HCG, 1.92 MOM for inhibin A, and 0.77 MOM for UE3. The best cutoff value was specifically considered for each marker that was determined a positive predictive value ranged 19.60% forα-FP, 17.62% for β-HCG, 18.33% for inhibin A and 14.88% for UE3, a negative predictive value ranged 95.63% for α-FP, 93.89% for β-HCG, 94.28% for inhibin A and 93.57% for UE3, and an area under receiver operating characteristic curve ranged 0.70 forα-FP, 0.63 forβ-HCG, 0.65 for inhibin A and 0.61 for UE3. Conclusions: This study reveals that the new cutoff values are more valuable in screening preeclampsia. Although these markers have a low positive predictive value, they present a high negative predictive value. Also, the combination ofα-FP,β-HCG and inhibin A and the combination ofα-FP and inhibin A have the highest value in screening preeclampsia.

Retrospective Descriptive Analysis of the Combined First Trimester of Pregnancy Screening in the Period Included from February 2016 to March 2017, Maternal Fetal Medicine Unit, San Juan de Dios Hospital

A retrospective descriptive study is conducted at the San Juan de Dios Hospital, San José, Costa Rica, during the period from February 2016 to March 2017, with a total of 37 patients from which a combined screening during the first trimester of pregnancy was conducted, evaluating maternal age, biochemical and sonographic methods that together can predict the risk of fetal chromosomal alterations during pregnancy. The purpose of using combined screening as a noninvasive method is to identify high risk gestations and to minimize the number of invasive procedures to detect the highest number of cases. Four patients with higher risk of aneuploidy during pregnancy were identified through this screening.

First Trimester Preeclampsia Screening and Prevention:Perspective in Chinese Mainland

Preeclampsia(PE),a multisystem disorder in pregnancy,is one of the leading causes of perinatal morbidity and mortality that poses financial and physical burdens worldwide.Preterm PE with delivery at<37 weeks of gestation is associated with a higher risk of adverse maternal and perinatal outcomes than term PE with delivery at≥37 weeks of gestation.A myriad of first trimester screening models have been developed to identifying women at risk of preterm PE.In fact,the Fetal Medicine Foundation(FMF)first trimester prediction model has undergone successful internal and external validation.The FMF triple test enables the estimation of patient-specific risks,using Bayes theorem to combine maternal characteristics and medical history together with measurements of mean arterial pressure,uterine artery pulsatility index,and serum placental growth factor.Establishing a quality control process for regular monitoring and to ensure data standardization,reliability,and accuracy is key to maintaining optimal screening performance.The rate of preterm PE can be reduced by 62%by using the FMF prediction model,followed by the administration of low-dose aspirin.Recent evidence has also demonstrated that metformin has the potential for preventing PE in patients at high-risk of the disorder.In this article,we will summarize the existing literature on the different screening methods,different components of risk assessment,therapeutic interventions,and clinical implementation of the first trimester screening and prevention program for PE with specific considerations for Chinese mainland.

Optimization of a novel three dimensional risk calculation model for software-based aneuploidy screening in early pregnancy

Introduction: A novel three dimensional approach for aneuploidy screening in the first trimester of pregnancy was developed in which risk assessment derives directly from comparing the plotted data of nuchal translucency, pregnancy associated plasma protein A (PAPP-A), and free β-human chorionic gonadotropin (fβ-hCG) of an examined fetus with similar coordinates of fetuses with already known health status. Under this approach, it is possible to utilize either a ‘box’ or a ‘sphere’ model. In either case, optimal volume sizes and the benefits of adopting a ‘minimum number of required fetuses’ (MNR) have not yet been investigated;and for the box model, two modifications, called ‘empty box results positive’ (EB+) and ‘simulation’ (SIM), provide additional options. It was the aim of this study to analyze which of the two models and their variants provides the best test performance. Methods: The study cohort was divided into a reference collective (n = 10,954) and a test collective (n = 4239). The test collective was examined repeatedly, with another model and modification used on each occasion. Test performances were compared by the area under curve (AUC) of receiver operating characteristics (ROC) curves. Results: The sphere model was inferior to the box model when optimal volumes were used with the latter and combined with the modifications EB+ and Sim. EB+ increased the number of assessable fetuses while Sim improved the test performance. MNR improved neither the box nor the sphere model. Conclusion: A new, optimized model in line with the obtained results should be developed and tested in further studies.

孕早期胎儿结构畸形超声筛查的卫生经济学评价

目的通过成本-效用分析,评价孕早期行胎儿结构畸形超声筛查相比于孕中期行胎儿结构畸形超声筛查的经济性,为临床路径优化提供循证依据。方法从全社会角度出发,构建决策树模型,模拟孕妇于孕早期行胎儿结构畸形超声筛查(干预组)与于孕中期行胎儿结构畸形超声筛查(对照组)2种不同产前筛查方案的临床选择及转归路径,评估2组不同路径下的成本-效用情况。模型模拟时长为18周,临床转移概率和成本参数来源于深圳市南山区妇幼保健院数据,效用数据来源于已公开发表的文献。结果指标包括成本、质量调整生命年(qualityadjusted life years,QALYs)和增量成本-效果比(incremental cost-effectiveness ratio,ICER)。通过敏感性分析评估模型结果的稳健性。结果相比对照组,干预组可减少不必要的妊娠发生,以更少的总成本投入获得更多的QALYs,ICER为−161732.68元/QALY,具有绝对成本效果优势。概率敏感性分析表明基础分析结果具有稳健性,干预组具有成本效果的概率为94.60%。结论在全社会角度下,于孕早期进行胎儿结构畸形筛查相比于孕中期具有绝对的经济学优势。

四维超声技术在孕中期胎儿畸形筛查中的临床应用

目的探讨如何有效运用四维超声技术诊断胎儿畸形。方法对4225例孕妇进行孕中期系统筛查,按照28~32个标准切面规范留图,并对所有资料进行回顾性分析。结果4225例孕妇筛查中,62例胎儿发育异常共68处畸形,超声检查检出60例,发生率1.47%,检出率1.42%,畸形胎儿经超声心动图检查、引产及产后随访证实。检出畸形包括头颈面部畸形15例、胸腹部畸形14例、躯干四肢畸形8例及心脏血管畸形25例,其中心脏血管畸形构成比为40.32%,漏诊1例耳廓畸形和1例拇指寄生指。45例实施羊膜腔内引产术,5例采用水囊引产,7例正常分娩,5例孕晚期胎死腹中。结论四维超声技术以高帧频、快速实时取样为特点,可以追踪胎儿运动,对胎儿发育可疑部位进行连续动态的立体成像,并可在对立体成像动态回放过程中进行补漏筛查。

母体血清胎盘生长因子联合中期唐氏筛查对胎儿生长受限的预测分析

目的探讨中期唐氏筛查联合胎盘生长因子(PlGF)对胎儿生长受限(FGR)的预测价值。方法收集2020年6月—2022年1月就诊的单胎妊娠孕妇530例,于妊娠15~20+6周采血检验PlGF,并进行中期唐氏筛查,对各指标进行线性相关性分析和二元logistic回归分析,采用受试者工作特征曲线(ROC)评估模型的性能。结果中期唐氏筛查的3项血清生物标志物与PlGF的相关性均无统计学意义(P>0.05)。ROC曲线提示,联合PlGF和中期唐氏筛查可实现更高的诊断效能(P=0.009),曲线下面积为0.873(95%CI:0.787~0.959),灵敏度为76.0%,特异度为93.2%。结论在中期唐氏筛查的基础上增加PlGF检测,对预测FGR具有临床意义。

Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age： a prospective study

Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age. Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age （AMA）. The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome （DS） and compare the trends of choice of screening and amniocentesis among AMA women. Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010. The gestational weeks were from 15 weeks to 20~6 weeks. The patients referred were grouped into a screening group （2107 cases） and an amniocentesis group （3297 cases） by their own decision. The prevalence of DS was compared between the two groups by chi-square test. Choice rates for each maternal age with trends were compared by regression analysis. Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54%o （18/2107）. Twenty- five cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7,58%0 （25/3297）. No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group （P=0.928）. The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group （1/131.88 vs. 1/23.78）. With the increase of the maternal age, the choice of amniocentesis increased while the choice of the screening showed an opposite trend. The choice of the AMA women between the screening and amniocentesis was significantly age relevant （P=0.012）. Conclusions The second trimester serum screening age alone to screen for DS. We suggest educating screening and amniocentesis options. in combination with maternal age was more effective than maternal the patients by recommending AMA women be informed of both

多普勒超声对孕中期胎儿复杂先天性心脏畸形的筛查价值

目的探讨多普勒超声对孕中期胎儿复杂先天性心脏畸形的筛查价值。方法选取2020年1月至2021年12月厦门大学附属中山医院收治的2338名孕中期产妇作为研究对象。对所有观察对象进行彩色多普勒超声筛查,对产妇进行跟踪随访,产后评估新生儿心脏情况,以产后随访结果为“金标准”,判断彩色多普勒超声的诊断效能,记录超声诊断与产后随访中疾病的分型情况。将超声筛查中复杂先天性心脏畸形胎儿作为观察组,并选取50名正常妊娠胎儿作为对照组,比较两组新生儿的心功能指标。结果彩色多普勒超声诊断复杂先天性心脏畸形的灵敏度为99.77%(428/429),特异度为96.55%(1845/1909),准确度为97.22%(2273/2338)。产后随访中确诊20例复杂先天心脏畸形病例的具体分型,在超声诊断中共检出19例复杂先天心脏畸形分型,符合率95.00%。观察组右心室舒张末期容积(EDV)、收缩末期容积(ESV)以及射血分数(EF)高于对照组,每搏输出量(SV)低于对照组,差异有统计学意义(P<0.05)。结论多普勒彩色超声技术对于孕中期胎儿复杂先天心脏畸形的临床检出率较高,诊断效能明显,并且能够对心功能指标进行观察和分析,可参考实施。

广西地区49669例中孕期母血清学三联筛查结果分析

目的分析广西地区2015—2019年49669例中孕期母血清学三联筛查结果。方法应用时间分辨免疫荧光分析法检测在广西壮族自治区妇幼保健院进行产前筛查的49669例妊娠15~20^(+6)周孕妇血清中甲胎蛋白(alpha fetal protein,AFP)、游离β-人绒毛膜促性腺激素(free β-human chorionic gonadotrophin,free-β-hCG)及游离雌三醇(unconjugated estriol,uE3)的浓度。结合血清学指标浓度和孕妇自身风险因素,采用配套软件lifecycle 4.0评估唐氏综合征(Down syndrome,DS)、18-三体综合征(18-trisomy syndrome)和开放性神经管缺陷(open neural tube defects,ONTD)的发病风险。结果(1)49669例孕妇中,筛查高风险孕妇共3290例,总筛查阳性率为6.62%。其中DS高风险2890例、18-三体综合征高风险134例、ONTD高风险266例,高风险率分别为5.82%、0.27%和0.53%。(2)≥35岁年龄组孕妇DS高风险率、18-三体综合征高风险率均显著高于<35岁年龄组,差异有统计学意义(χ^(2)=244.392、273.720,均P<0.05)。(3)高风险孕妇中确诊DS 21例、18-三体综合征4例、ONTD 1例,在随访的低风险孕妇中确诊DS 6例、18-三体综合征2例,三种疾病的检出率分别为77.78%、66.67%和100%;阳性预测值分别为0.73%、2.99%和0.38%。(4)49669例孕妇中,低风险组46379例(93.38%),高风险组3290例(6.62%),高风险组孕妇不良妊娠结局发生率高于低风险组(3.46%vs 1.84%),差异有统计学意义(χ^(2)=39.696,P<0.05)。结论中孕期母血清学三联筛查方法简单高效、无创经济,结合相应产前诊断技术能够有效降低出生缺陷发生率,提高出生人口素质。

妊娠中期唐氏筛查在高龄孕妇产前诊断中的效果研究

目的:探讨妊娠中期唐氏筛查在高龄孕妇产前诊断中的效果。方法:选择2020年1月至2021年10月在本院行产前检查的2000例高龄孕妇为研究组,选择2000例适龄孕妇为对照组。两组孕妇均接受唐氏筛查。比较两组18-三体综合征、唐氏综合征、NTD高风险发生率,以及羊水细胞核型分析结果、不良母婴结局。结果:研究组唐氏综合征高风险率和总筛查高风险率分别为8.35%、12.00%,高于对照组的4.60%、7.00%,差异有统计学意义(P<0.05);两组18-三体综合征、NTD高风险率比较,差异无统计学意义(P>0.05);研究组羊水染色体异常率为3.15%(63/2000),高于对照组的0.60%(12/2000),差异有统计学意义(P<0.05);研究组早产、引产、妊娠合并症、巨大儿发生率和不良母婴结局发生率分别为8.85%、3.15%、3.15%、5.70%、20.85%,均高于对照组的2.40%、1.00%、1.40%、1.60%、6.40%,差异有统计学意义(P<0.05)。结论:高龄孕妇妊娠中期唐氏筛查可准确显示其高风险指征,提高唐氏综合征检出率,可预测高龄孕妇不良妊娠结局风险,值得临床应用。

18333例妊娠中期孕妇血清学筛查结果分析

目的回顾性分析妊娠中期孕妇血清学筛查结果,探讨中孕期血清学筛查在预测不良妊娠结局中的意义。方法选取2010年10月至2022年7月在本院进行中孕期血清学产前筛查的18333例孕妇,分析筛查结果与孕妇年龄、孕周等的相关性,逐年的筛查人数变化趋势、以及高危人群的分布情况,评估中孕期血清学筛查的意义。结果在筛查的18333例孕妇中,筛查结果为阳性的共1473例,占比8.03%。其中21-三体综合征筛查高危1067例,占比5.82%、18-三体综合征筛查高危63例,占比0.34%、神经管缺陷(NTD)筛查高危343例,占比1.87%,三种疾病筛查的阳性率与行业标准基本持平,显示本实验室质控效果较好。同等条件下,高龄组孕妇筛查阳性率要显著高于低龄组孕妇,筛查阳性率与年龄呈正相关。甲胎蛋白(AFP)、游离雌三醇(uE3)、人绒毛膜促性腺激素(HCG)三项筛查指标随孕周发生变化,结果显示在孕15~19周筛查结果保持相对稳定,与规范建议的15~20+6周保持一致。2011-2021年间筛查人数总体呈下降趋势,分析与当前生育现状和疫情的爆发相关。对427例高危孕妇随访中,有1例NTD高危的孕妇在行NIPT检测后确诊。以上结果均提示中孕期产前筛查在当前生育政策下的必要性。结论规范开展孕中期血清学筛查,加强质量控制,结合其他产前诊断技术,尤其是对高龄孕妇给予及时适当的产前指导,对预防出生缺陷具有重要的意义。

孕中期产前筛查检验前的质量控制及对策分析

目的探讨孕中期产前筛查检验前的质量控制及对策。方法选取2018年1月至2021年1月于本中心建档的接受产前检查的200名产妇作为研究对象,随机分为常规组与检查组,每组100名。常规组接受常规检查管理,检查组在检查前接受严格的检查质量管理,比较两组不合格标本占比及血清筛查结果。结果检查组不合格标本占比为1.00%,明显低于常规组的8.00%,差异有统计学意义(P<0.05)。检查组高风险筛出率、羊水确诊率比较差异无统计学意义;常规组高风险筛出率高于羊水确诊率及检查组,差异有统计学意义(P<0.05);两组羊水确诊率比较差异无统计学意义。结论产前筛查严格做好质量控制,有助于提高高风险产妇的检出率,利于及时给予治疗干预,提高优生率。

胎儿系统超声检查在产前胎儿畸形筛查中的应用价值

目的探讨在产前胎儿畸形筛查中予胎儿系统超声检查的价值。方法选择2021年1月—2022年7月于丹阳市妇幼保健院建档的3467名产妇,均于孕18~24周予系统超声检查,对所有产妇均随访至产后,以产后检查结果为金标准,评估胎儿系统超声对产前胎儿畸形的诊断效能,并比较胎儿系统超声对各类畸形鉴别诊断结果与金标准的一致性。结果系统超声对产前胎儿畸形诊断的准确率、灵敏度、特异度分别为99.94%、100.00%、99.94%。系统超声对胎儿畸形鉴别诊断准确率96.30%,对神经系统、骨骼系统、消化系统、颜面部、心脏、泌尿系统、胸部畸形、脐带胎盘异常、单脐动脉、多发畸形诊断准确率分别为100.00%、100.00%、100.00%、100.00%、93.33%、100.00%、100.00%、100.00%、100.00%、66.67%,与金标准比较,一致性较好(Kappa=0.96)。结论在产前胎儿畸形筛查中予系统超声检查准确率高,诊断效能理想,且能有效鉴别畸形类别。

妊娠中期唐氏血清学筛查对预防不良妊娠结局的临床价值

目的研究妊娠中期唐氏血清学筛查对预防不良妊娠结局的临床价值。方法回顾性分析2019年1月至2021年12月于江西省浮梁县妇幼保健院产科门诊建档并进行妊娠中期唐氏血清学筛查的2799例孕妇临床资料。采集孕妇空腹静脉血,采用微粒子化学发光法测定β-人绒毛膜促性腺激素(β-hCG)、游离雌三醇(uE3)及甲胎蛋白(AFP)、抑制素A(INH-A),统计妊娠中期唐氏血清学筛查结果,比较不同唐氏筛查风险级别孕妇的不良反应妊娠结局。结果2799例进行妊娠中期唐氏血清学筛查的孕妇中低风险有82.96%(2322/2799),临界风险9.97%(279/2799),高风险7.07%(198/2799);高风险组治疗性引产(2.02%)、剖宫产率(36.87%)高于临界风险组(0.36%、27.96%)、低风险组(0.09%、19.98%),临界风险组剖宫产率高于低风险组,高风险组死胎发生率(1.01%)高于低风险组(0),高风险组巨大儿(15.15%)及早产发生率(5.05%)高于临界风险组(8.96%、1.79%)、低风险组(5.00%、1.77%),临界风险组巨大儿发生率高于低风险组,差异均有统计学意义(P<0.05)。结论妊娠中期唐氏血清学筛查可作为预测不良妊娠结局的辅助检查,妊娠中期唐氏血清学筛查高风险、临界风险孕妇不良妊娠结局发生率较高,需要加强对该类孕妇的监测。

孕妇妊娠中期唐氏筛查结果分析

目的观察唐氏综合征(DS)相关指标筛查应用于妊娠中期孕妇产前中的效果。方法选取32名接受产前DS筛查的孕妇,重点检测孕妇甲胎蛋白(AFP)、血清β-人绒毛膜促性腺激素(β-HCG)、游离雌三醇(uE_(3))指标,比较不同孕周、体重孕妇的AFP、β-HCG、uE_(3)水平。结果孕妇AFP、uE_(3)水平随着孕周增加而升高,而β-HCG水平随着孕周增加而降低,差异有统计学意义(P<0.05)。孕妇的AFP、β-HCG、uE_(3)水平随着体重增加而降低,差异有统计学意义(P<0.05)。结论在孕妇妊娠中期实施DS筛查能够对唐氏儿出生的风险进行一定评估,可降低婴幼儿出生缺陷率,对孕妇的妊娠结局具有指导作用,显示良好的优生优育价值,值得临床推广与应用。

8726名孕妇孕中期血清学筛查结果分析

目的分析黄山市8726名孕妇孕中期血清学筛查结果。方法收集8726名孕妇孕中期血清学筛查结果,根据筛查结果分为高风险组、临界风险组和低风险组。通过定量测定孕妇血液中与妊娠有关的生化标记物[甲胎蛋白(AFP)、总β人绒毛膜促性腺激素(β-HCG)、游离雌三醇(uE3)]浓度,结合孕妇年龄、体质量、孕周等因素对胎儿患有21三体综合征(DS)、18三体综合征(ES)和开放性神经管缺陷(ONTD)的风险进行综合评估。结果8726名孕妇孕中期血清学筛查出3种疾病高风险孕妇575名,高风险检出率6.59%(575/8726),其中DS高风险224名,检出率2.57%(224/8726);ES高风险9名,检出率0.10%(9/8726);ONTD高风险342名,检出率3.92%(342/8726)。575名筛查高风险孕妇中,ONTD高风险占比最高,为59.48%(342/575),DS占比38.96%(224/575),ES占比1.57%(9/575)。不同年龄孕妇血清学筛查高风险检出率比较,差异有统计学意义(P<0.05)。其中15~19岁年龄孕妇高风险检出率最高(10.59%),30~34岁年龄孕妇高风险检出率次之(7.97%)。不同孕周孕妇血清学筛查高风险检出率比较差异无统计学意义(P>0.05)。575名筛查出的高风险孕妇均选择进一步检查,包括羊水穿刺64名、先行无创产前筛查(NIPT)314名及单纯超声检查197名。随访结果,224例DS高风险孕妇中不良妊娠结局8名;9例ES高风险孕妇不良妊娠结局3名;342例ONTD高风险孕妇不良妊娠结局28名。结论孕中期血清学筛查对预防出生缺陷有重要作用,规范开展血清学筛查,可有效降低出生缺陷发生率。

南京地区孕早期产前筛查指标中位数建立和临床意义探讨

目的:建立南京地区孕早期产前筛查血清游离β-人绒毛膜促性腺激素(β-human chorionic gonadotropin,β-HCG)、妊娠相关蛋白A(pregnancy-associated plasma protein A,PAPP-A)及胎儿颈项皮肤透明层厚度(nuchal translucency thickness,NT)等指标的中位数值,探讨孕早期筛查切割值的制定和筛查指标的临床意义。方法:采用时间分辨免疫荧光(time-resolved fluoroim-munoassay,TRFIA)技术对1 684例妊娠8～13+6周孕妇血清游离β-HCG和PAPP-A浓度进行测定,并在其妊娠11～13+6周通过超声技术测定胎儿NT值,随访已分娩孕妇的妊娠结局。结果:①孕妇不同孕周血清游离β-HCG中位数平均水平比软件内嵌高32%,而PAPP-A除8周外均接近于软件内嵌,NT值则低于软件内嵌15%;②当筛查阳性率为5%时,21-三体高风险的切割值约为1∶550,共检出4例染色体异常;③不良妊娠结局者孕早期筛查单指标中血清PAPP-A中位数的倍数值(multiples of the medi-an,MOM值)显著低于正常结局者,NT值则显著高于正常结局者。结论:①不同地区血清和超声指标中位数的筛查切割值制定标准可能存在差异,有必要进一步深入探讨应用国外软件作内嵌参数的适用性;②孕早期产前筛查单指标MOM值对妊娠结局的判定有重要意义,并有助于检出其他染色体异常。