胎儿鼻骨超声检查对唐氏综合征产前筛查的价值

目的探讨产前和产后超声检查唐氏综合征(DS)胎儿鼻骨发育情况,以提高DS胎儿的产前筛查率。方法对42例经染色体核型分析证实为21-三体的DS胎儿和240例染色体正常胎儿的鼻骨产前超声声像图以及30例DS胎儿引产后尸体标本的鼻骨超声声像图进行分析,并于正中矢状切面测量鼻骨长度。结果染色体正常胎儿的鼻骨随着孕周增长而增长,鼻骨长度与孕周呈线性关系,超声孕周与鼻骨长度的相关系数为0.541(P0.05)。57.1%(24/42)的DS胎儿存在鼻骨缺失或发育不良,其中20例鼻骨缺失,超声声像图特征为颜面部正中矢状切面和横切面均显示无强回声鼻骨;4例鼻骨发育不良,超声声像图特征为鼻骨短小和一侧鼻骨缺失。结论 DS胎儿易发生鼻骨缺失或发育不良,胎儿鼻骨的产前超声检查可作为DS产前筛查的一个有效措施。     

胎儿鼻部超声在产前筛查唐氏综合征中的应用价值

目的应用超声观察并测量胎儿鼻前软组织厚度(PT)和鼻骨长度,探讨PT筛查唐氏综合征(DS)的可行性,以及PT和鼻骨长度联合筛查DS的临床应用价值。方法选取中孕期存活DS胎儿46例(DS组)和正常胎儿491例(正常组),应用常规超声检测其PT和鼻骨长度,结果进行对比分析。结果正常组胎儿PT与孕周呈线性相关,且随孕周增加而增厚(r=0.725,P0.01)。正常组20例胎儿PT增厚(4.1%),DS组32例胎儿PT增厚(69.6%),DS组PT增厚率明显高于正常组,差异有统计学意义(P0.01)。正常组胎儿鼻骨长度与孕周呈线性相关,随孕周增加而增厚(r=0.770,P0.01)。正常组胎儿22例(4.5%)鼻骨发育异常,DS组32例胎儿(69.6%)鼻骨发育异常,两组比较差异有统计学意义(P0.01)。PT增厚和鼻骨发育异常两项指标联合筛查DS的敏感性91.3%,特异性95.1%,阳性预测值63.6%,阴性预测值99.2%。结论 PT增厚与DS关系密切,PT是产前筛查DS的有效超声软指标,可推广应用于临床。PT和鼻骨长度联合筛查方案优于单一检查指标筛查。     

超声测量中孕期胎儿鼻骨的临床价值

目的 研究中孕期胎儿鼻骨长度测量的临床意义.方法 产前超声对1 148例中孕期胎儿进行系统筛查,同时对胎儿鼻骨进行测量,得到1 124例中孕期正常胎儿鼻骨长度的范围,并对其中24例诊断为鼻骨发育不全的超声资料和染色体检查结果进行回顾性分析.结果 中孕期正常胎儿鼻骨显示率100％,鼻骨长度随孕周的增加而增加.其中24例胎儿鼻骨发育不全(2.1％),其中染色体核型检查异常18例(75％):17例21-三体,1例18-三体.18例染色体异常中15例合并多发畸形(83.3％),3例无合并畸形;6例染色体正常且均无合并畸形.结论 胎儿鼻骨发育不全多数合并染色体异常,超声检测中孕期胎儿鼻骨是染色体异常的重要结构标记.     

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。     

连续顺序追踪超声法诊断早中孕期胎儿肢体异常及图像分析CSCD

目的对胎儿常见肢体畸形及少见复杂肢体畸形(海豹肢和人体鱼序列综合征)胎儿产前超声声像图特征进行总结分析。方法采用连续顺序追踪超声法对2014年9月至2016年8月在解放军第一〇五医院产前超声筛查的18 708例胎儿行常规肢体和手足检查。与引产胎儿外观、影像检查及尸检结果对照,总结胎儿肢体畸形产前超声声像图特征。结果产前常规和系统超声筛查检出胎儿肢体畸形76例(0.41%,76/18 708),包括:(1)前臂及手部畸形2例;缺指、多指、并指等手指数目异常11例;裂手畸形2例;手缺如2例;手姿势异常7例;(2)下肢及足部畸形:足内翻45例,海豹肢2例,人体鱼序列综合征1例;(3)四肢短小4例。其中孕14~19+6周胎儿肢体畸形超声检出率为0.69%(18/2627),孕20~27+6周超声检出率为0.46%(38/8195),孕20~27+6周超声检出率为0.40%(17/4237),均高于孕11~13+6周超声检出率(0.08%,3/3649)。76例肢体畸形胎儿中合并其他系统异常37例(包括颅脑、心脏、消化、肾脏、头面部及脊柱等);其中染色体异常11例(21-三体2例,18-三体6例,13-三体3例)。76例肢体畸形引产胎儿标本外观检查均与产前超声检查结果一致,尸检(64例)证实产前超声仅遗漏1例胎儿左足多趾畸形。结论早中孕期采用连续顺序追踪超声法筛查胎儿四肢及指趾,可及早发现胎儿肢体畸形,为临床处理提供诊断依据。     

连续顺序追踪超声法诊断早中孕期胎儿肢体异常及图像分析

目的对胎儿常见肢体畸形及少见复杂肢体畸形(海豹肢和人体鱼序列综合征)胎儿产前超声声像图特征进行总结分析。方法采用连续顺序追踪超声法对2014年9月至2016年8月在解放军第一〇五医院产前超声筛查的18 708例胎儿行常规肢体和手足检查。与引产胎儿外观、影像检查及尸检结果对照,总结胎儿肢体畸形产前超声声像图特征。结果产前常规和系统超声筛查检出胎儿肢体畸形76例(0.41%,76/18 708),包括:(1)前臂及手部畸形2例;缺指、多指、并指等手指数目异常11例;裂手畸形2例;手缺如2例;手姿势异常7例;(2)下肢及足部畸形:足内翻45例,海豹肢2例,人体鱼序列综合征1例;(3)四肢短小4例。其中孕14~19+6周胎儿肢体畸形超声检出率为0.69%(18/2627),孕20~27+6周超声检出率为0.46%(38/8195),孕20~27+6周超声检出率为0.40%(17/4237),均高于孕11~13+6周超声检出率(0.08%,3/3649)。76例肢体畸形胎儿中合并其他系统异常37例(包括颅脑、心脏、消化、肾脏、头面部及脊柱等);其中染色体异常11例(21-三体2例,18-三体6例,13-三体3例)。76例肢体畸形引产胎儿标本外观检查均与产前超声检查结果一致,尸检(64例)证实产前超声仅遗漏1例胎儿左足多趾畸形。结论早中孕期采用连续顺序追踪超声法筛查胎儿四肢及指趾,可及早发现胎儿肢体畸形,为临床处理提供诊断依据。     

探讨三维超声骨骼成像技术在孕中晚期诊断胎儿鼻骨发育不良方面的应用价值

目的:探讨采用三维超声骨骼成像技术诊断妊娠中晚期胎儿鼻骨发育不良的应用价值。方法:回顾性分析2018年2月至2019年2月间本院8966例孕妇的产前诊断资料。所有的孕妇均行二维与三维超声骨骼成像检查,且根据孕妇年龄分成高年龄组(年龄≥35岁)与低年龄组(年龄35岁),对各组产妇的胎儿异常检出进行比较。结果:二维超声对胎儿鼻骨发育不良的检出率为78.55%,明显低于三维超声100.00%的检出率;8966例孕妇中总计检出88例胎儿鼻骨发育异常,检出率为0.98%,其中高年龄组的1052例孕妇中检出28例鼻骨发育异常胎儿,占2.66%,7914例低年龄组孕妇检出60例鼻骨发育异常胎儿,占0.76%,组间比较差异有统计学意义(P0.05);结论:对孕中晚期的孕妇,采用三维超声骨骼成像可有效的检出胎儿鼻骨发育不良情况,值得推广。     

二维超声联合四维超声对不同孕周产前超声筛查胎儿畸形的价值

目的:探讨二维超声联合四维超声对不同孕周产前超声筛查胎儿畸形的价值。方法:将2017年1月-2018年12月在我院产检的60例不同孕周孕妇合并胎儿畸形作为研究对象,将二维超声检查作为对照组,二维超声联合四维超声检查作为观察组,分别行孕早期(11-17周)、孕中期(18-27周)、孕晚期(28-40周)超声筛查,比较两组的胎儿畸形检出率、胎儿畸形类别与孕周的关系。结果:观察组在孕早期、孕中期和孕晚期畸形胎儿检出率均明显高于对照组(P0.05);孕早期及孕晚期胎儿畸形检出率明显低于孕中期(P0.05);孕中期以泌尿生殖系统畸形检出率最高,其次为唇腭裂、脊柱发育不全等。结论:二维超声联合四维超声对不同孕周产前超声筛查胎儿畸形的价值显著,能明显提升胎儿畸形检出率,尤其以孕中期的检查效果最好,有效提升了优生优育,具有积极的临床意义。     

胎儿超声检查鼻骨异常和鼻前软组织增厚在预测染色体异常中的应用研究

目的探讨超声检测胎儿鼻骨异常和鼻前软组织增厚在预测染色体异常中的应用价值。方法回顾性选取行超声系统筛查的孕妇5123例,超声检测胎儿鼻骨的长度及鼻前软组织厚度,对超声检出鼻骨异常及鼻前软组织增厚的胎儿均行无创产前基因检测(NIPT)或介入性产前诊断,然后进行染色体核型分析,染色体核型分析未见异常的胎儿临床均随访至生后1个月。结果 5123例行常规筛查的孕妇中有353例存在胎儿鼻部结构异常,其中鼻骨异常者187例,均为鼻骨缺失(双侧鼻骨缺失61例,单侧鼻骨缺失126例),鼻前软组织增厚者148例,鼻骨缺失合并鼻前软组织增厚者18例;经无创产前基因检测或介入性产前诊断,鼻骨缺失胎儿染色体及结构异常发生率为57.22%(107/187),其中唐氏综合征占65.42%,18-三体综合征占10.28%,13-三体综合征占9.35%,47,XXY综合征占1.87%;鼻前软组织增厚者胎儿染色体及结构异常发生率为50.00%(74/148),其中唐氏综合征占70.27%,18-三体综合征占9.46%,13-三体综合征占6.76%,47,XXY综合征占1.35%; 18例鼻骨缺失合并鼻前软组织增厚胎儿,唐氏综合征占93.33%,18-三体综合征占5.56%,13-三体综合征占11.11%,47,XXY综合征占5.56%;胎儿鼻前软组织组增厚组在孕11～25周时胎儿鼻前软组织显著厚于鼻前软组织正常组(P 0.05);鼻骨缺失、鼻前软组织增厚的胎儿及二者合并出现的胎儿发生唐氏综合征的发生率显著高于鼻骨及鼻前软组织正常的胎儿(P 0.05)。结论对孕早中期胎儿进行鼻骨发育情况及鼻前软组织厚度超声检测,可有效预测胎儿染色体异常的发生,对唐氏综合征胎儿筛查有着重要的应用价值。     

宫内胎儿股骨生长延迟与孕妇甲状腺功能减退相关性分析

目的对宫内胎儿股骨生长延迟(股骨短小)与宫内胎儿发育迟缓(IUGR)、孕妇甲状腺功能减退进行相关性分析。方法2018年1月至2020年1月行三维彩色超声检查的孕妇3784例,选取孕26周胎儿股骨短小的孕妇60例作为观察组,另选取孕26周胎儿发育正常的孕妇30例作为对照组,通过超声检测比较两组胎儿的股骨形态、股骨长度(FL)、头围(HC)和腹围(AC),比较两组孕妇的甲状腺功能。结果观察组32例(53.3%)FL、AC、HC测量值均低于正常标准2个标准差,诊断为IUGR;单纯股骨短小是胎几发育迟缓的重要参考依据。观察组孕妇THS增高17例,FT4正常11例,FT4降低6例;对照组THS增高2例,FT4正常2例FT4降低0例;血清TSH与FT4水平两组比较,差异均有统计学意义(P<0.05);孕妇甲状腺功能减低是影响胎儿骨骼生长发育的重要因素。结论三维彩色超声检查易发现胎儿股骨短小,与孕妇甲状腺功能减低相关,临床及时干预治疗可以减少胎儿发育异常的发生。     

Evaluation of Fetal Growth and Fetal Well-Being

This article reviews the actual knowledge and future developments of ultrasound techniques for the evaluation of fetal growth and well-being. Sonography allows the visualization of the fetus in utero and is utilized worldwide for the evaluation of fetal growth and well-being. Fetal biometry assessment is performed in the second half of pregnancy when deviations of fetal growth can be best recognized through alterations of fetal abdominal circumference growth. Doppler velocimetry of utero-placental vessels identifies alterations of placental perfusion and is valuable in the assessment of fetal brain, heart, and liver perfusion, thus being utilized in the timing of delivery. Recently, three-dimensional ultrasound evaluation of fetal organs and placenta is being developed.     

Fetal Surgery

As prenatal diagnosis has become increasingly sophisticated and as technological advances have enhanced the range of diagnostic capabilities, invasive therapies have developed from our expanded understanding of the natural history and pathophysiology of structural anomalies. This article presents a comprehensive review of the treatment options currently available for the entire spectrum of fetal diagnoses that are potentially surgically correctable. The current indications, contraindications, and outcomes for shunting procedures, open fetal surgery, and fetoscopic surgeries are reviewed.     

Fetal Megacystis

The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bladders can be used to reliably establish the most likely diagnosis in fetuses with this condition. The sonographic records of pregnant patients referred to our institutions over a 10‐year period who were found on initial 2‐dimensional sonography to be carrying fetuses with megacystis were examined for evidence of a keyhole sign, bladder thickness, amniotic fluid index, and fetal sex. When available, 3‐/4‐dimensional sonography, Doppler angiography, tomographic ultrasound imaging, virtual organ computer‐aided analysis, and automatic volume calculation were used as part of the detailed fetal anatomic survey. Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses with megacystis originally had a diagnosis of prune belly syndrome. The diagnosis for 10 male fetuses with a keyhole sign was changed to megacystis secondary to posterior urethral valves. The fetus with ambiguous genitalia had prune belly syndrome. One of the female fetuses had a diagnosis of urethral atresia, and the diagnosis for the other female fetus was megacystis‐microcolon‐intestinal hypoperistalsis syndrome. In conclusion, in fetuses with megacystic bladders, it is possible to distinguish between cases with prune belly syndrome, posterior urethral valves, urethral atresia, and megacystis‐microcolon‐intestinal hypoperistalsis syndrome by a detailed anatomic survey using 2‐ and 3‐/4‐dimensioinal sonographic techniques.     

Fetal Monitoring

The severe risk situations characterized by fetal growth retardation are outlined. The small fetus, whether growth retarded or severely premature, is best delivered where both fetal monitoring and newborn resuscitation are available. The moderate risk fetus can be monitored at home base with clinical skills described in this article.     

Fetal Polydactyly

Records of 24 pregnancies with fetal polydactyly were reviewed for the type of polydactyly, family history, associated sonographic findings, genetic testing, and postnatal/postmortem examination findings. The importance of fetal polydactyly can be mainly elucidated by the family history and absent or associated anomalies on a specialized malformation scan. Fetal karyotyping diagnoses frequent chromosomal anomalies in about half of cases with additional malformations, and array comparative genomic hybridization may be a future means of detecting cryptic chromosomal aberrations. Syndromic disorders of monogenic origin demand a careful interdisciplinary clinical assessment for establishing a clinical diagnosis and prognosis for the outcome of the child.     

Fetal Imaging

Given that practice variation exists in the frequency and performance of ultrasound and magnetic resonance imaging (MRI) in pregnancy, the Eunice Kennedy Shriver National Institute of Child Health and Human Development hosted a workshop to address indications for ultrasound and MRI in pregnancy, to discuss when and how often these studies should be performed, to consider recommendations for optimizing yield and cost effectiveness, and to identify research opportunities. This article is the executive summary of the workshop.