孕11—13^＋6周胎儿颈项透明层厚度的超声测量

目的分析孕11～13^＋6周正常胎儿颈项透明层（NT）厚度及其与头臀径的关系。方法选择孕11～13^＋6周头臀径为45～84mm的正常胎儿3224例,超声测量胎儿NT厚度和头臀径,并对头臀径与颈NT厚度进行相关性研究。结果胎儿NT厚度随着头臀径的增加而增厚;中位数预测值从头臀径为45mm时的0．9mm至头臀径为84mm时的1．7mm。结论孕11-13^＋6周正常胎儿NT厚度的参考值范围为早孕期胎儿染色体异常和其他先天性异常的筛查提供了帮助。     

超声检测孕11~13~(+6)周胎儿颅后窝结构的临床研究

目的探讨Dandy-Walker畸形胎儿早孕期颅后窝结构是否有所改变,同时建立孕11~13+6周胎儿颅后窝结构的正常参考值范围。方法在我院接受孕11~13+6周颈项透明层厚度筛查并存有原始图像的胎儿中,随机选取正常胎儿245例和Dandy-Walker畸形胎儿2例,经腹超声检查正中矢状切面颅后窝结构,测量脑干前后径(BS)、脑干后缘至枕骨之间的距离(BSOB),计算BS/BSOB值。结果 Dandy-Walker畸形胎儿第四脑室和小脑延髓池之间的分界线显示不连续。正常胎儿BS、BSOB前后径测值均随头臀长的增加呈线性增加,BS/BSOB值随头臀长的增加呈线性减低。Dandy-Walker畸形胎儿均表现为BS、BS/BSOB值小于正常值的第5百分位数,BSOB大于正常值的第95百分位数。结论建立了经腹超声测量孕11~13+6周胎儿正中矢状面BS、BSOB及BS/BSOB值正常值参考范围。早孕期DandyWalker畸形胎儿正中矢状面颅后窝结构较正常胎儿发生相应改变,BS、BSOB、BS/BSOB值可能是早孕期筛查DandyWalker畸形高危胎儿的新指标。     

超声检测中孕早期胎儿开放性脊柱裂的指标及其意义

目的 探讨超声测量中孕早期胎儿颅内透明层(IT)、脑干厚度(BS)、脑干-枕骨距离(BSOB)、中脑导水管-枕骨距离(AOSO)的可行性,并建立正常值,以指导开放性脊柱裂的早期筛查.方法 测量200例孕13～18周正常胎儿IT、BS、BSOB及AOSO,分析其与双顶径的相关性.结果 胎儿IT、BS、BSOB、AOSO的显示率为96％,不同医师测量4个指标重复性和一致性较好,其组内相关系数(ICC)分别为:0.961、0.953、0.963、0.958;其95％一致性界限分别为:-1.34～0.65 mm、-1.59～1.03 mm、-1.46～1.41 mm、-1.74～0.99 mm.4个指标均与双顶径呈线性正相关关系.BS/BSOB均＜0.9,与双顶径无相关性.结论 超声测量中孕早期正常胎儿IT、BS、BSOB、AOSO方法可行,具有良好可重复性.BS/BSOB＜0.9可作为筛查开放性脊柱裂最简单的指标.     

超声软指标筛查与诊断孕11～13+6周胎儿开放性脊柱裂的临床价值

目的:探讨早孕期超声筛查胎儿开放性脊柱裂(open spine bifida,OSB)的方法,试图提早开放性脊柱裂诊断时间。材料与方法:选择300例正常胎儿按孕周分为11~11+6周、12~12+6周、13~13+6三组,每组100例,常规检查颈项透明层(NT)后,在此切面上测量胎儿颅内透明层(IT)厚度、脑干直径(BS)与脑干-枕骨间距离(BSOB),计算出BS/BSOB比值,并对测量值与比值进行统计,得出正常值范围。然后用测得的正常值,对3000例11~13+6孕周胎儿分别用IT、BS、BSOB和BS/BSOB进行OSB的诊断试验评价,并计算其特异性、敏感性、漏诊率、误诊率和Youden指数。结果:300例11~13+6孕周胎儿的正常参考值范围分别为:IT 1.3-2.3mm,BS 1.8-3.4mm,BSOB 3.0-5.8mm,BS/BSOB比值0.5-0.8。在诊断试验评价的3000例胎儿中经引产或新生儿随访证实为OSB共5例,用IT、BS、BSOB和BS/BSOB异常筛查OSB的情况为:IT 3/5例,BS 1/5例,BSOB 2/5例,BS/BSOB比值4/5例,其敏感性和特异性分别为60%/99.4%;20%/99.3%;40%/99.5%;80%/99.8%。结论:BS/BSOB比值1.0是筛查早孕期胎儿OSB较敏感的指标。     

超声测量孕11～13~(+6)周正常胎儿额上颌角值及其与顶臀径的关系分析

目的探讨孕11~13~(+6)周正常胎儿额上颌角的超声测值及其与顶臀径的关系。方法选取孕11~13~(+6)周顶臀径测量值为45~84 mm的胎儿386例,应用经腹超声于其面部正中矢状面测量额上颌角值,分析其与顶臀径的关系。结果 386例胎儿均足月分娩,产后随访未见明显异常。所有胎儿于孕11~13~(+6)周显示颅脑正中矢状面,其额上颌角值为71.47~85.24°。额上颌角值随顶臀径的增加而减小,呈负相关(r=-0.67,P=0.045)。结论孕11~13~(+6)周正常胎儿额上颌角呈锐角,与顶臀径呈负相关。     

11～13+6周胎儿犁腭部测值及其对唇腭裂的诊断价值

目的探讨孕11～13+6周胎儿犁腭部长径和厚径的参考值范围及其对该孕期胎儿唇腭裂的诊断价值。方法选取2020年5月至2021年8月于广东省妇幼保健院行孕11～13+6周超声检查的孕妇1 559例, 在头面部正中矢状面观察胎儿犁腭部, 分别测量其长径和厚径, 制定正常胎儿参考值范围。将在此期间诊断并随访证实的唇腭裂胎儿犁腭部长径和厚径与参考值范围作比较, 验证该参考值范围对孕11～13+6周胎儿唇腭裂的诊断价值。结果按照不同孕周将1 518例正常胎儿分别分为11～11+6周、12～12+6周、13～13+6周, 胎儿犁腭部长径参考值分别为4.3～5.9 mm、5.0～6.8 mm、5.4～7.7 mm, 厚径参考值分别为2.0～2.9 mm、2.2～3.4 mm、2.5～3.8 mm。胎儿犁腭部长径和厚径与胎儿头臀长呈显著正相关(rs=0.733、0.634, 均P<0.001)。1 559例胎儿中, 25例诊断并证实为唇腭裂, 其犁腭部厚径均小于参考范围最小值, 22例(88.0%)胎儿的犁腭部长径小于参考值。结论孕11～13+6周胎儿犁腭部长径和厚径参考值范围的建立对该时期胎儿...     

超声诊断胎儿并腿畸形综合征1例

正孕妇,27岁,孕2产0。于孕前3个月行人绝经期促性腺激素联合人绒毛膜促性腺激素促排卵治疗,并予以黄体酮口服黄体功能支持;无化学毒物、放射性接触史,无家族遗传病史和病毒感染史。孕12+1周行超声检查:胎盘位于子宫后壁,厚度1.1 cm,钙化0级,羊水最大无回声区3.3 cm,顶臀径5.19 cm,超声孕周11+6周,颈项透明层厚度1.5 mm,胎儿仅见单一下肢(图1)。2周后要求终止妊娠,复查超声示:胎盘位于子宫后壁,厚度2.0 cm,钙化0级,羊水最大无回声区3.7 cm,顶臀径7.27 cm,颈项透明层厚度2.3 mm,超声孕周13+3周;胎儿下肢呈融合状,小腿可见两     

产前丘脑水平横断面超声观察孕11~13^(+6)周胎儿中脑导水管及其与头臀径的关系北大核心CSCD

目的观察丘脑水平横断面超声评估孕11~13^(+6)周胎儿中脑导水管及其与头臀径的关系的价值。方法选取216名孕妇,并根据孕周将其分为3组:A组(n=50)孕11~11^(+6)周,B组(n=103)孕12~12^(+6)周,C组(n=63)孕13~13^(+6)周;并于胎儿丘脑水平横断面超声观察中脑导水管及与头臀径的关系。结果216胎中,204胎(A组45胎、B组99胎、C组60胎)中脑导水管显示良好,产前超声检查胎儿中枢神经系统均未见明显异常,且各组显示率差异无统计学意义(χ^(2)=2.507,P=0.286);12胎中脑导水管显示不清,其中10胎未见明显中枢神经系统异常,梗阻性脑积水、开放性脊柱裂合并脑积水各1胎,后均终止妊娠,胎儿尸体解剖检查结果与产前超声检查结果一致。214例出生后中枢神经系统相关检查均未见明显异常。相关性及回归分析显示胎儿中脑导水管左右径与头臀径呈线性负相关(r=-0.168,P<0.05)。结论于丘脑水平横断面超声观察孕11~13周^(+6)胎儿中脑导水管及与头臀径的关系可为预测胎儿中枢神经系统结构异常提供参考依据;胎儿中脑导水管显示不清提示存在中枢神经系统异常风险。     

孕11~13+6周胎儿后脑结构经后脑横断面的超声观察

目的探讨超声经后脑横断面观察孕11~13+6周胎儿后脑结构的可行性。方法随机选择2695例孕11~13+6周胎儿,行颅脑正中矢状面及经后脑横断面超声检查,观察后脑结构并测量后脑透明层厚度;分析两切面检测颅内透明层厚度的一致性。结果 2695例胎儿中,2402例均获得颅脑正中矢状切面及经后脑横断面(其中1例两切面后脑结构均显示异常),239例仅获得经后脑横断面,54例未获得两切面。正常胎儿后脑在颅脑正中矢状切面及经后脑横断面均显示为"二高三低回声带"结构。两切面所测的胎儿透明层厚度一致性较好(一致性偏倚为0.0219,一致性界限为-0.2740~0.2874)。结论孕11~13+6周经后脑横断面观察胎儿后脑结构可作为一种安全、快速、有效的方法筛查胎儿神经系统畸形。     

超声筛查孕11～13+6周胎儿畸形的初探

目的探讨经腹部超声在孕11～13+6周筛查胎儿畸形的临床价值。方法在本院建卡的1 153名孕妇,孕11～13+6周超声系统观察胎儿解剖结构,测量胎儿颈后透明层厚度和鼻骨长度,并跟踪随访。结果⑴1 153例胎儿的全程随访中发现孕期及新生儿期异常者26例,正常儿1 126例,失访1例;⑵建立孕11～13+6周胎儿颈后透明层厚度和鼻骨长度正常参考值;⑶胎儿颈后透明层厚度及鼻骨长度的检测成功率分别为98.04%和95.02%;⑷26例异常胎儿中包括孕期发现胎儿畸形16例(孕11～13+6周超声诊断胎儿畸形5例,孕11～13+6周后超声诊断胎儿畸形11例)、染色体异常3例,胎死宫内5例,产前无异常发现、新生儿发现异常者2例。结论孕11～13+6周超声检查可筛查严重解剖结构畸形和染色体异常胎儿,在早孕期终止妊娠能大大降低孕妇身体和心理的伤害。     

Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

OBJECTIVES: To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS: We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minimum diameter of 1.5 mm, intracardiac echogenic focus, hydronephrosis with a minimum anteroposterior diameter of the pelvis of 1.5 mm and hyperechogenic bowel. RESULTS: The prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel was significantly higher in trisomy 21 than in normal fetuses (9.6% vs. 1.5%, 17.1% vs. 5.3% and 11.4% vs. 2.4%, respectively). There was no significant difference between the two groups in the prevalence of choroid plexus cysts (7.5% vs. 5.0%). There were no significant differences in crown-rump length or nuchal translucency thickness in either chromosomally normal or trisomy 21 fetuses between those with and those without any one of the markers. CONCLUSIONS: At 11 + 0 to 13 + 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel is higher in trisomy 21 than in chromosomally normal fetuses. As there is no significant association between the presence of these markers and nuchal translucency thickness, they could be included in the assessment of risk to improve accuracy of screening.     

Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the mid-facial hypoplasia of fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation, by three-dimensional (3D) evaluation of the maxilla and the nasal bones. METHODS: A 3D volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median 12) weeks of gestation in 80 fetuses that were subsequently found to have trisomy 21 and in 862 fetuses subsequently found to be chromosomally normal. The multiplanar mode was used to obtain a sequence of transverse views of the fetal face and to demonstrate the maxilla, the adjacent rami of the mandible and the nasal bones. The maxillary depth, defined as the distance between the alveolus of the maxilla in the midline anteriorly and the midpoint of the line joining the rami posteriorly, was measured. Ossification of the nasal bones was considered to be normal if both bones were more echogenic than the overlying skin. RESULTS: In the chromosomally normal group the maxillary depth increased linearly with crown-rump length (CRL) from 3.1 mm at a CRL of 45 mm to 4.8 mm at a CRL of 84 mm, and in the trisomy 21 fetuses the depth was significantly smaller than normal (mean difference = - 0.3 mm, P < 0.001). There was no significant association between the delta maxillary depth and delta nuchal translucency thickness in either the trisomy 21 or the chromosomally normal fetuses. Impaired ossification of the nasal bones was observed in 3.1% of the chromosomally normal fetuses and in 60.0% of those with trisomy 21. The mean maxillary depth was significantly smaller in fetuses demonstrating impaired ossification than in those with normal ossification of the nasal bones (mean difference = -0.2 mm; 95% CI, -0.3 to -0.1, P = 0.001). CONCLUSIONS: In a high proportion of fetuses with trisomy 21 there is sonographic evidence of mid-facial hypoplasia at 11 + 0 to 13 + 6 weeks of gestation.     

孕11～14周正常胎儿心脏经阴道与腹部超声检查的对比研究

目的探讨经阴道超声检查观察孕11～14周胎儿心脏的方法及其诊断价值。方法对158例有高危妊娠病史及胎儿颈项透明层增厚且胎儿心脏正常的孕妇,于孕11～14周采用经阴道超声检查及腹部超声检查进行胎儿心脏检查。结果经阴道超声检查对孕12+0～12+6周、孕13+0～13+6周、孕14+0～14+3周胎儿心脏四腔心、左心室流出道及右心室流出道切面的显示明显优于腹部超声检查,两者相比差异有统计学意义(P0.01,P0.05)。而经阴道超声检查对孕11+0～11+6周胎儿心脏各切面的显示与腹部超声检查相比差异无统计学意义(P0.05)。结论对早孕晚期及中孕早期的高危孕妇行经阴道超声检查有临床应用价值。     

四腔心切面联合三血管气管切面彩色多普勒超声在孕11~13+6周胎儿严重先天性心脏畸形筛查中的应用价值

目的探讨四腔心切面联合三血管气管切面彩色多普勒超声在孕11~13⁺⁶周胎儿严重先天性心脏畸形筛查中的应用价值。 方法选择2018年1月至12月在四川省妇幼保健院行孕期检查的9756例孕妇,分别于孕 11~13⁺⁶周及孕16~24周进行胎儿心脏超声检查。采用四腔心切面联合三血管气管切面彩色多普勒超声对孕11~13⁺⁶周胎儿筛查心脏畸形,采用标准化胎儿超声心动图筛查孕16~24周胎儿心脏畸形,并对分娩后所有新生儿及引产胎儿进行随访。 结果9756例胎儿孕11~13⁺⁶周超声筛查发现心脏畸形38例（51.4%,38/74）,其中非严重心脏畸形5例（14.2%,5/35）,严重心脏畸形33例（84.6%,33/39）。出生或引产后诊断先天性心脏畸形74例,其中严重先天性心脏畸形39例,非严重心脏畸形35例。 结论运用四腔心切面联合三血管气管切面彩色多普勒超声能筛查出大部分严重胎儿心脏畸形,可为临床咨询、预后提供及时有力的证据。     

Fetal trunk and head volume measured by three-dimensional ultrasound at 11 + 0 to 13 + 6 weeks of gestation in chromosomally normal pregnancies.

OBJECTIVE: To establish the relationship between fetal trunk and head volume measured by three-dimensional (3D) ultrasound and gestational age at 11 + 0 to 13 + 6 weeks of gestation. METHODS: The fetal trunk and head volume were measured using 3D ultrasound in 417 chromosomally normal fetuses from singleton pregnancies at 11 + 0 to 13 + 6 (median, 12 + 0) weeks of gestation. Regression analysis was used to determine the significance of the association between fetal volume and gestational age. The Bland-Altman analysis was used to compare the measurement agreement and bias for a single examiner and between different examiners. RESULTS: The fetal trunk and head volume increased linearly with gestation from a mean of 5.8 mL at 11 + 0 weeks to 33.3 mL at 13 + 6 weeks and 1 SD was 4.4 mL. There was also a significant linear association between fetal volume and crown-rump length (CRL), from a mean of 5.1 mL at a CRL of 45 mm to 37.5 mL at a CRL of 84 mm and 1 SD was 2.7 mL. However, within this gestational range, a doubling in CRL, from a mean of 48 mm at 11 + 0 weeks to 79 mm at 13 + 6 weeks, was associated with a 5-6-fold increase in fetal volume. The mean difference in fetal volume between paired measurements by the same sonographer was -0.87 mL (95% limits of agreement, -2.31 to 4.05 mL) and the mean difference between paired measurements by two sonographers was -1.09 mL (-5.49 to 3.32 mL). CONCLUSIONS: 3D ultrasound can provide a reproducible measurement of the fetal trunk and head volume in early pregnancy. At between 11 + 0 and 13 + 6 weeks there is a 5-6-fold increase in fetal volume but only a doubling in CRL.     

产前超声诊断妊娠11~13+6周胎儿体蒂异常的应用价值

目的探讨产前超声对妊娠11~13+6周胎儿体蒂异常的诊断价值。方法回顾性分析我院产前超声诊断的19例妊娠11~13+6周胎儿体蒂异常的超声图像特征及其随访结果。结果19例体蒂异常的胎儿中,单胎16例、双胎3例,均有不同程度的胸腹壁缺损、内脏外翻和脊柱发育异常,其中脐带异常18例,肢体发育异常9例,露脑畸形2例,静脉导管异常9例,颈部透明层增厚2例,颈部水囊瘤3例,腹腔囊性占位2例,泄殖腔发育异常1例,巨膀胱1例,门体分流1例。结论产前超声检查对胎儿体蒂异常的早期诊断和确定临床处理决策具有重要的应用价值。     

孕11~13+6周超声筛查胎儿结构畸形的临床价值

目的总结孕11~13⁺⁶周胎儿结构畸形超声声像图特征,探讨孕11~13⁺⁶周胎儿超声规范化筛查的临床价值。 方法对2011年9月至2014年5月在深圳市宝安区妇幼保健院产前检查的4853例孕妇的孕早期（11~13⁺⁶周）胎儿行颈项透明层（NT）厚度测量,同时行胎儿主要结构超声筛查,显示胎儿正中矢状切面、颈项矢状切面、颅脑横切面、心脏四腔心切面及三血管气管切面、腹部横切面、膀胱切面、上肢切面、下肢切面,并保存图像。对超声检查后继续妊娠的孕妇均行中孕期Ⅲ级和晚孕期Ⅱ级超声检查,所检病例均追踪随访至出生后6周,引产胎儿均行病理检查,超声与病理检查结果进行对照分析。 结果孕11~13⁺⁶周超声筛查的4853例孕妇中单胎4500例,双胎353例,共5206例胎儿,发现胎儿结构异常85例,检出率为（1.6%,85/5206）,包括中枢神经系统异常28例,前腹壁异常9例,心脏异常6例,泌尿系畸形3例,骨骼系统畸形2例,多房性水囊瘤及水肿胎35例,双胎之一结构异常2例。85例结构异常胎儿中6例在孕14周后复查无异常,正常出生;79例结构异常胎儿超声诊断后孕妇均选择引产;其中孕14周前选择引产73例,孕14周后超声复查及染色体检查证实胎儿畸形后孕妇选择引产6例;仅9例孕妇选择绒毛膜穿刺或羊水穿刺,胎儿核型分析3例正常,3例为18-三体综合征,3例为45X综合征。产后检查证实胎儿结构异常110例,与产后检查结果对照,早孕期超声漏诊胎儿结构异常25例（22.7%,25/110）,中晚孕期补充检出胎儿结构异常22例,产前超声共诊断胎儿结构异常107例,仅漏诊3例,出生后检查新生儿室间隔缺损2例、小耳畸形1例。 结论孕11~13⁺⁶周超声结构筛查可使胎儿畸形筛查时间提前,为致死性胎儿畸形的孕妇提供较早终止妊娠的机会,有效减少结构异常胎儿出生,具有重要临床意义。     

Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study.

OBJECTIVE: To compare nasal bone assessment by ultrasound examination at 11-14 weeks' gestation and postmortem X-ray examination in fetuses with trisomy 21. METHODS: Twenty-one fetuses with trisomy 21 which had undergone sonographic examination at 11-14 weeks for measurement of nuchal translucency thickness and assessment of the nasal bones were examined by postmortem X-ray following termination of pregnancy. RESULTS: The nasal bones were absent in 11/21 (52.4%) fetuses on ultrasound examination at 11-14 weeks and in 10/21 (47.6%) fetuses on X-ray examination at 14 to 25 + 5 weeks. Ultrasound and X-ray findings were discordant in 9/21 (42.9%) cases. Eight of 11 (72.7%) fetuses with absent nasal bones on ultrasound examination had a nuchal translucency thickness > 95th centile. CONCLUSION: The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Prior to inclusion of nasal bone assessment into risk calculation for trisomy 21, the independence of absence of nasal bones by ultrasound and increased nuchal translucency above the 95th centile at 11-14 weeks should be investigated more extensively.     

Metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the development of the metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation. METHODS: Three-dimensional (3D) ultrasound was used to measure the height and gap between the frontal bones in 200 normal fetuses and in nine fetuses with holoprosencephaly at 11 + 0 to 13 + 6 (median, 12) weeks of gestation. RESULTS: In the 200 normal fetuses, the height of the frontal bones increased significantly with gestation from a mean of 2.5 mm (5(th) and 95(th) centiles: 1.9 mm and 3.3 mm) at 11 weeks to 6.1 mm (5(th) and 95(th) centiles: 4.6 mm and 8.1 mm) at 13 + 6 weeks. The gap between the two frontal bones did not change significantly with gestation (mean: 1.5 mm; 5(th) centile: 1.0 mm; 95(th) centile: 2.0 mm). In fetuses with holoprosencephaly, the height of the frontal bones was significantly larger (mean difference, 5.6 SDs; range, 3.9-7.7 SDs; P < 0.0001) and the gap was significantly smaller (mean 0.2 mm, range 0-0.8 mm; P < 0.0001) than those in normal fetuses. CONCLUSIONS: Holoprosencephaly is associated with an accelerated development of the frontal bones and premature closure of the metopic suture.