11～13+6孕周与14～17+6孕周胎儿超声筛查的作用

目的评价非选择孕妇11～13+6孕周和14～17+6孕周胎儿超声筛查的作用。方法 2008年2月至2011年6月广西柳州市妇幼保健院行11-17+6孕周胎儿首次产前常规超声检查共15 725例患者,其中11-13+6孕周组11 692例,14～17+6孕周组4033例。比较两组胎儿结构异常的检出率及畸形类型构成比。结果 11～13+6孕周组和14～17+6孕周组胎儿结构异常首次检出率分别为2.30%(269/11692)和1.76%(71/4033)。两组胎儿结构异常类型构成比差异。11～13+6孕周组胎儿畸形前3位为颈部异常(项颈透明层增厚及颈部淋巴水囊瘤)占26.4%(71/269),前腹壁异常占20.7%(56/269),中枢神经系统异常占11.3%(30/269)。14～17+6孕周组胎儿畸形前3位为中枢神经系统异常占36.6%(26/71),颈部淋巴水囊瘤占25.4%(18/71),水肿胎占18.3%(13/71)。结论 11～13+6孕周胎儿超声检查能诊断多种致死性胎儿畸形及检测各种染色体异常超声标记;14～17+6孕周胎儿超声检查可观察相对细微的胎儿结构异常。11～13+6孕周是早期胎儿超声筛查的理想时间。     

11～13+6孕周与14～17+6孕周胎儿超声筛查的对比

目的 评价非选择孕妇11～13+6孕周和14～17+6孕周胎儿超声筛查的作用.方法 2002年1月至2008年4月在中山大学附属第一医院行11～17+6孕周胎儿首次产前常规超声检查共3645例患者,其中11～13+6孕周组1556例,14～17+6孕周组2089例.比较两组胎儿结构异常的检出率及畸形类型构成比.结果 11～13+6孕周组和14～17+6孕周组胎儿结构异常首次检出率分别为2.3%(36/1556)和3.3%(68/2089),差异无统计学意义.两组胎儿结构异常类型构成比差异有统计学意义(P=0.03).11～13+6孕周组胎儿畸形前3位为颈部异常(项颈透明层增厚及颈部淋巴水囊瘤)占31.6%(18/57),胎儿水肿占15.8%(9/57),前腹壁异常占12.3%(7/57).14～17+6孕周组胎儿畸形前3位为心血管系统异常占16.7%(18/108),中枢神经系统异常占14.8%(16/108),前腹壁异常占12.0%(13/108).结论 11～13+6孕周胎儿超声检查能诊断多种致死性胎儿畸形及检测各种染色体异常超声标记;14～17+6孕周胎儿超声检查可观察相对细微的胎儿结构异常.11～13+6孕周是早期胎儿超声筛查的理想时间.     

中孕超声筛查及超声引导下羊水穿刺诊断胎儿染色体异常的临床价值

目的评价中孕超声筛查及羊水穿刺诊断胎儿染色体异常的临床应用价值。方法16例超声筛查可疑染色体异常中的12例及288例有产前诊断指征的孕妇在超声引导下抽取羊水检查染色体核型。结果16例超声筛查可疑染色体异常，检出异常染色体7例，检出率43．8％；羊水穿刺均一次成功，288例羊水细胞培养成功率97．9％，检出异常染色体17例，检出率6．0％。超声筛查异常、孕妇血清学筛查异常、不良孕产史等是有效的羊水穿刺指征，其中超声筛查异常染色体异常检出率明显高于其它组。结论中孕超声筛查是有效的产前诊断指征，有助于及时发现胎儿染色体异常，并在超声引导下羊水穿刺进一步明确诊断。     

产前诊断21-三体综合征及其相关高危因素分析

目的探讨21-三体综合征产前诊断及其相关高危因素。方法 2005年1月至2012年12月来我院行产前诊断确诊胎儿染色体核型为21-三体的病例共计76例,分析其病史,超声检查及染色体核型结果。结果 76例确诊病例中21-三体综合征染色体核型标准型67例,嵌合型3例,易位型6例。确诊病例中产前诊断的高危因素唐筛高危者26例,高龄患者22例,超声提示结构异常或存在超声软指标患者55例,不良孕史6例。其中仅为单一高危因素的46例,其中唐筛高危16例,超声提示结构异常或存在超声软指标25例,高龄4例,不良孕史1例;合并两种或两种以上高危因素的30例,且均合并超声因素。超声高危因素55例中胎儿存在结构异常的有11例,占20%,而存在超声软指标的有44例,占80%。结论对孕妇产前筛查不仅要重视血清学筛查,还要特别强调孕期各个阶段的超声筛查,尤其是超声软指标的检查,两者结合可有效的提高21-三体胎儿的筛查检出率。     

97例胎儿染色体非整倍体异常临床分析

目的分析97例胎儿染色体非整倍体异常的临床资料,探讨产前诊断技术的临床应用。方法产前诊断包括羊水穿刺及脐血穿刺的4076例孕妇,检出胎儿染色体非整倍体异常97例。对这97例孕妇的年龄、产前诊断孕周、产前诊断指征和超声检查异常表现等进行分析。产前诊断指征包括:1.唐氏筛查高风险(≤1/270);2.唐氏筛查临界风险(1/270-1/1000);3.唐氏筛查单项筛查指标mom值异常;4.高龄;5.孕早孕超声检查提示胎儿颈项透明层厚度NT增厚≥2.5mm;6.无创产前检测NIPT高风险;7.不良孕产史;8.超声提示胎儿结构异常或软指标异常。结果孕妇平均年龄为31.1±6.59岁,21-三体65例占67%,18-三体10例占10.31%,9-三体2例占2.06%,20-三体且为嵌合体1例,占1.03%,47,NN,+mar2例,占2.06%,性染色体非整倍体17例,占17.53%;其中22(22.68%)例孕妇孕期超声发现异常,4例B超提示软指标异常者中孕期唐筛均为低风险。结论妊娠期多种产前筛查包括早期NT检查、血清学筛查以及NIPT等筛查手段能有效的帮助胎儿常染色体三体的诊断,而孕中晚期的超声检查在产前筛查中具有重要意义。     

孕11-13~(+6)w在胎儿畸形筛查中的临床价值

目的分析临床对孕周在11-13~(+6)w孕妇进行胎儿畸形筛查的临床价值。方法回顾性分析2014.3~2016.8期间入我院行产前胎儿畸形筛查的5217例孕妇,所有孕妇均在11-13~(+6)w进行检查,方式为采用彩色超声对胎儿行常规多方位切面扫描(包括腹部横切面、颅脑横切面、颈项矢状切面、心脏四腔心切面以及正中矢状切面等),同时对胎儿颈项透明层(NT)厚度测量,对继续妊娠者行孕中期、孕晚期超声检查,并随访至胎儿出生后6w观察胎儿妊娠结局,对于检查后给予引产处理的胎儿均行病理检查,并将超声、病理结果进行分析。结果 11-13~(+6)w检查中有72例孕妇发现胎儿结构异常,占总检查人数1.4%;占总胎儿畸形人数38.1%;孕早期检查结果正常的5145例孕妇中有117例孕中晚期检查出异常,占总检查的2.3%,占胎儿异常的61.9%。结论临床在孕妇11-13~(+6)w时进行胎儿畸形筛查,临床畸形胎儿检出率较高,能较好的显示胎儿结构畸形情况,但仍有部分畸形胎儿早孕中晚期检出。     

1026例孕中期妇女唐氏综合征和神经管缺陷的血清筛查及细胞染色体分析

目的：探讨孕中期妇女（14～20）周外周血甲胎蛋白（AFP）和游离绒毛膜促性腺激素（f-βHCG）在胎儿唐氏综合征（Down’s syndrome,DS）产前筛查中的作用。方法：应用免疫化学发光法分别检测1026例孕中期孕妇血清AFP和f-βHCG浓度,结合母龄、孕周和体重等因素,用筛查软件计算风险系数,对DS高危孕妇进行羊水细胞染色体核型分析,神经管缺陷（NTD）高危孕妇行B超检查。结果：筛查的1026例孕妇中,DS高危孕妇64例,阳性率6.2%,NTD高危孕妇9例,阳性率0.88%。在高危孕妇中发现4例胎儿染色体异常,1例经B超检查确诊为神经管畸形。两组异常胎儿染色体检出率有显著性差异（P〈0.01）,35岁或35岁以上孕妇组胎儿异常发生率高于35岁以下孕妇组（P〈0.01）。结论：利用DS筛查结合B超产前诊断,能够提高胎儿先天性缺陷的早期发现和诊断。     

早孕期规范化超声检查在胎儿出生缺陷中的应用效果及妊娠结局研究

目的观察早孕期规范化超声检查降低胎儿出生缺陷率的临床效果及妊娠结局,探讨早孕期规范化超声检查提升优生优育水平的价值。方法选取2015年1月~2016年12月期间在我院建档行孕期保健并分娩的孕妇500例作为研究对象,设为观察组。另选择同期500例于孕中期在我院建档行孕期保健的孕妇作为研究对象设为对照组。观察组孕妇行首次超声检查(孕11~(+0)周~13~(+6)周),根据胎儿头臀长和NT厚度结果,初步判定胎儿NT值是否正常,对NT值异常胎儿孕妇增加检测指标如无创DNA,进一步明确胎儿是否有唐氏综合征、其它三体综合征等遗传疾病。两组孕中期保健均按照指南规定频次、内容进行。统计观察组孕早期超声规范化诊断结果,比较两组孕妇孕中晚期保健筛查结果,妊娠结局、流产或引产胎儿病理学诊断结果、胎儿出生后缺陷情况。结果观察组500位早孕期规范化超声检查结果:17例胎儿检查结果异常。其中11例胎儿NT增厚,6例胎儿出现器官结构异常。NT异常的11例均行无创DNA检查,确诊8例胎儿为三体综合征均引产,其余3例继续观察妊娠。6例器官结构异常胎儿均行引产。对照组孕妇孕中晚期保健筛查出三体综合征5例,均引产,胎儿器官结构异常共计13例,其中11例行引产,2例继续观察妊娠。观察组孕中晚期筛查出胎儿器官结构异常10例,7例引产,3例继续妊娠观察。观察组引产率高于对照组,引产病理结果与引产前筛查结果符合率高于对照组,出生缺陷率低于对照组,上述指标组间比较差异有统计学意义(P0.05),出生缺陷存在的差异主要是三体综合征,对照组有3例三体综合征未检出,而观察组无三体综合征出生缺陷。观察组妊娠结局不良率明显低于对照组(P0.05)。结论早孕期规范化超声检查对胎儿三体综合征的筛查具有重要价值,可有效降低出生缺陷率,提升孕妇妊娠结局。     

孕11～13~(+6)w产前超声检查胎儿颈项透明层增厚在胎儿染色体异常筛查中的应用价值

目的探讨孕11～13~(+6)w产前超声检查胎儿颈项透明层(NT)增厚在胎儿染色体异常筛查中的应用价值。方法选取2018年1月至2019年12月我院收治的120例孕11～13~(+6)w产前超声检查胎儿NT增厚的孕妇作为研究对象,所有孕妇均行羊水穿刺,对胎儿染色体的核型进行对比分析,比较不同分娩年龄、胎儿性别、NT厚度的胎儿染色体异常检出率。结果胎儿染色体异常24例,染色体异常检出率20.0%(24/120)。其中胎儿染色体数目异常20例(83.3%)、胎儿染色体结构异常4例(16.7%)。不同分娩年龄、胎儿性别、NT厚度的胎儿染色体异常检出率比较差异均有统计学意义(P0.05),其中孕妇年龄越大胎儿染色体异常检出率越高,女性胎儿染色体异常检出率高于男性胎儿,且胎儿NT厚度与胎儿染色体异常检出率呈正相关。结论孕11～13~(+6)w产前超声检查胎儿NT增厚在胎儿染色体异常筛查中具有重要诊断价值,若胎儿NT厚度增加则提示胎儿染色体异常风险较高。     

孕中期唐氏筛查法在高龄孕妇中的意义分析

目的 探究唐氏筛查法在高龄孕妇妊娠中期的检出率及准确性。方法 对2017年1月~2017年10月宜春市妇幼保健院215例进行产前检查的孕妇,运用时间分辨免疫荧光法对血清中的甲胎蛋白、人类绒毛膜性腺激素以及游离雌三醇浓度进行测定。经唐氏筛查法检查后提示唐氏综合征高风险者,进行羊水染色体核型检查,分析比较两组孕妇的唐氏筛查高风险率以及染色体异常率。结果 在200例符合纳入标准的孕妇中,经唐氏筛查共检出高风险孕妇15例,适龄组高风险检出率7例（4.60%）低于高龄组8例（16.67%）,差异有统计学意义（P＜0.05）。高风险孕妇经羊水染色体核型检查后发现唐氏综合征胎儿1例,该例患儿母亲为高龄孕妇,已在18孕周时进行引产。产后随访其他新生儿均未出现上述疾病。高风险胎儿其染色体异常率高于低风险胎儿,差异有统计学意义（P＜0.05）。结论 随着孕妇年龄的增加,唐氏筛查的高风险检出率明显增高,同时经唐氏筛查法提示高风险胎儿其染色体异常率明显高于低风险胎儿,因此妊娠中期应用唐氏筛查法评估异常胎儿情况对高龄孕妇有重要意义。     

超声测量胎儿颈项透明层厚度在产前筛查中的应用

产前筛查是目前诊断胎儿畸形的必要手段,胎儿颈项透明层（nuchal translucency,NT）增厚与胎儿染色体异常、先天性心脏病、自然流产等不良临床结局密切相关,孕11-13＋6w超声测量胎儿颈项透明层（NT）厚度是孕早期诊断胎儿畸形最有意义的一项检查,特别是筛查染色体异常的较敏感的指标。为了明确超声测定胎儿颈项透明层厚度在产前诊断中的意义,现就国内外文献对胎儿颈项透明层与产前超声的关系进行综述。     

Dépistage de la trisomie 21 par échographie

The nuchal translucency is the usual subcutaneous space, between the skin and the soft tissues covering the fetus'neck spine, observed by ultrasound during the first trimester of pregnancy. It increases with gestational age. The association between nuchal translucency thickness and risk of Down syndrome was firstly observed in high risk populations as an old maternal age or a history of a previous child affected by Down syndrome. However, these studies are retrospective and only report the issue among pregnancies associated with an abnormal nuchal translucency thickness. Furthermore, as the performance of a screening test is correlated to the prevalence of the disease in the studied population, such results can not be extrapolated to the general population. To date, eleven prospective studies have been published, assessing the performance of the nuchal translucency measurement in a general population, including about 125 000 patients. The global sensitivity of this screening was 70% for a false positive rate of 5%. For an adjusted risk on the maternal age, the detection rate increased up to 77%. Although nuchal translucency measurement is an early and performing screening tool, uncertainties remain nevertheless about its reproducibility in the general population. In order to correctly measure the nuchal translucency, a previous training course is necessary to guarantee adequate and reproducible measurements.     

胎儿颈部半透明膜厚度测定筛查胎儿染色体异常

目的探讨孕早期筛查胎儿染色体异常的方案.方法 2241例孕龄在11～14w单胎妊娠的孕妇接受筛查.采用腹式或阴式B型超声波测量胎儿颈部半透明膜(NT)厚度;根据所测NT数据结合孕妇年龄由计算机算出胎儿染色体异常风险率.对所筛查出的高风险胎儿则进一步进行产前诊断(羊水细胞染色体核型分析).结果共筛查出26例染色体异常,包括Down综合征16例(61.54%)、性染色体数目异常6例(23.08%)、染色体结构异常4例(15.38%).所有接受筛查的孕妇中风险大于1/250者344例(15.35%);染色体异常检出率为80.77%,假阳性率为6.50%;21三体检出率为87.50%.结论孕早期NT 孕妇年龄二联筛查方案对孕早期临床筛查胎儿染色体异常有较好的实用价值.     

孕早期胎儿颈项透明层在产前超声筛查胎儿畸形中价值的Meta分析

目的探讨孕早期胎儿颈项透明层（NT）在产前超声筛查胎儿畸形（特别是心脏畸形）中的价值。方法检索Cochrane图书馆、PubMed、OVID、Springer数据库、中国期刊全文数据库和中国生物医学文献数据库（1990年1月至2008年8月）中孕早期NT产前超声筛查胎儿畸形（特别是心脏畸形）的中英文文献，按照诊断试验的纳入和排除标准筛选文献，提取纳入研究的特征信息。数据分析采用Meta—DiSc1．4软件，检验异质性，并根据异质性选择相应的效应模型。对所有研究予以加权定量合并分析，计算汇总敏感度和特异度及其95％CI。绘制汇总受试者工作特征曲线（SROC），并计算曲线下面积（AUC），最后剔除异质性文献和孕14周后检测NT厚度的文献进行敏感度分析。结果共纳入文献12篇，检查胎儿共计112099例。孕早期胎儿NT≥P95和P99对心脏畸形产前诊断的各研究间存在异质性，Meta分析合并效应量时采用随机效应模型；孕早期胎儿NT≥P95对胎儿畸形产前诊断的各研究间无异质性，Meta分析合并效应量时采用固定效应模型。9篇文献对孕早期胎儿NT≥P95对心脏畸形的诊断价值进行了分析，汇总灵敏度、特异度和SROCAUC分别为29．8％、96．9％和0．8047；7篇文献对孕早期胎儿NT≥P99对心脏畸形的诊断价值进行了分析，汇总灵敏度、特异度和SROCAUC分别为18．9％、99．3％和0．9712；5篇文献对孕早期胎儿NT≥P95对胎儿畸形的诊断价值进行了分析，汇总灵敏度、特异度和SROCAUC分别为25．0％、98．3％和0．1830。孕早期胎儿NT≥P95对心脏畸形产前诊断的汇总敏感度高于NT≥P99（x2=6．58，P〈0．05），两者的汇总特异度差异无统计学意义（P〉0．05）。剔除异质性文献和14周后检测NT厚度的文献对汇总敏感度和特异度影响不大。结论孕早期胎儿NT增厚对笼统的胎儿畸形产前筛查的准确性低?     

Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective

PurposeTo assess nuchal translucency measurements that were performed as part of routine prenatal screening for Down syndrome.MethodsCollect ultrasound measurements of nuchal translucency and crown rump length provided by individual sonographers over a 6-month period to six North American prenatal screening laboratories, along with the laboratory's nuchal translucency interpretation in multiples of the median. For sonographers with 50 or more observations, compute three nuchal translucency quality measures (medians, standard deviations, and slopes), based on epidemiological monitoring.ResultsAltogether, 23,462 nuchal translucency measurements were submitted by 850 sonographers. Among the 140 sonographers (16%) who submitted more than 50 observations, 76 (54%) were found to have all three quality measures in the target range. These 140 sonographers collectively accounted for 14,210 nuchal translucency measurements (61%). The most common single measure to be out of range was nuchal translucency multiples of the median, found for 29 of the 140 sonographers (21%).ConclusionLaboratories should routinely monitor the quality of nuchal translucency measurements that are received for incorporation into Down syndrome screening risk calculations and interpretations. When possible, instituting sonographer-specific medians and providing individualized feedback about performance and numbers of women tested offer the potential to yield more consistent and improved performance.     

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses

Pathological examination of the heart and great arteries was performed in 112 chromosomally abnormal fetuses after surgical termination of pregnancy at 11–16 weeks of gestation. The chromosomal abnormalities were diagnosed by chorion villus sampling which was carried out because screening of the pregnancies by a combination of maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation identified them as being at increased risk. The group consisted of 60 fetuses with trisomy 21, 29 with trisomy 18, 17 with trisomy 13 and 6 with Ullrich-Turner syndrome. The most common cardiac lesion seen in trisomy 21 fetuses was an atrioventricular or ventricular septal defect. Trisomy 18 was associated with ventricular septal defects and/or polyvalvular abnormalities. In trisomy 13, there were atrioventricular or ventricular septal defects, valvular abnormalities, and either narrowing of the isthmus or truncus arteriosus. Ullrich-Turner syndrome was associated with severe narrowing of the whole aortic arch. In all four groups of chromosomally abnormal fetuses, the aortic isthmus was significantly narrower than in normal fetuses and the degree of narrowing was significantly greater in fetuses with high nuchal translucency thickness. It is postulated that narrowing of the aortic isthmus may be the basis of increased nuchal translucency thickness in all four chromosomal abnormalities. Am. J. Med. Genet. 69:207–216, 1997. © 1997 Wiley-Liss, Inc.     

超声测量胎儿颈项透明层在妊娠早期筛查中的应用价值

胎儿颈项透明层（nuchal translucency,NT）增厚与胎儿染色体异常、先天性心脏病、自然流产等不良临床结局密切相关,孕11-13＋6周超声测量胎儿颈项透明层厚度已成为妊娠早期筛查的重要指标。本文就NT的检测要求,在临床中的应用价值以及NT的形成机制作一综述。     

A newly recognized autosomal recessive syndrome with abnormal vertebral ossification,rib abnormalities,and nephrogenic rests

We describe three cases of a severe malformation syndrome in siblings of both sexes. The characteristic features observed were absent intrauterine ossification of an apparently normal cartilaginous spinal column; rib abnormalities, with unossified segments and posterior gaps; thoracic hypoplasia; and multiple intralobar nephrogenic rests in the kidneys. This syndrome can be identified in early pregnancy by ultrasound scans due to the lack of ossification of the thoraco-lumbar spine and its association with increased nuchal translucency thickness. We suggest that this is a newly recognized autosomal recessive syndrome.     

Serial first- and second-trimester Down's syndrome screening tests among IVF-versus naturally-conceived singletons

BACKGROUND: It has been reported that second-trimester serum markers may be affected by assisted reproduction, leading to a higher false-positive rate. METHODS: A total of 285 naturally and 71 IVF-conceived singletons which underwent a serial disclosure Down's syndrome screening programme were compared. The study protocol included first-trimester combined [nuchal translucency (NT), free beta-HCG and pregnancy-associated plasma protein-A (PAPP-A)] testing. The second-trimester triple serum screening included alpha-fetoprotein (AFP), intact HCG and unconjugated estriol (uE3). After excluding aneuploidies, miscarriages, anatomical anomalies and cases with incomplete follow-up, the serum samples of normal cases were assessed and correlated. RESULTS: NT measurement was not significantly changed in either group. However, the IVF group had lower PAPP-A [0.96 versus 1.05 multiples of normal median (MoM)] and higher AFP (1.13 versus 1.07 median MoM). Both groups had similar rates of first-trimester false-positive results (FPR; 7 and 9% respectively), but the IVF group had a significantly higher mid-gestation FPR rate (10 versus 5%; Pearson chi2, P = 0.029). This has contributed to amniocentesis uptake rates of 15 and 13% for the IVF and natural conception pregnancies respectively. CONCLUSIONS: The IVF group tended to have a significantly higher second-trimester FPR rate. To counterbalance this phenomenon, integrated first- and second-trimester screening tests or the use of NT alone might be a reasonable option that deserves further investigation.