胎儿脊柱裂发生机制及超声诊断临床价值

目的探讨胎儿脊柱裂发生机制及超声表现,分析产前超声对此类畸形的诊断价值。方法回顾性分析14例产前诊断为胎儿脊柱裂的超声表现,并经引产或生产后放射影像学资料对比证实,总结其声像图特点。结果产前超声诊断脊柱裂14例,其中12例显性脊柱裂,2例隐性脊柱裂。胎儿脊柱裂的超声表现具有特征性。超声诊断与产后诊断符合率达100%。结论产前超声检查可以准确地诊断胎儿脊柱裂,具有可靠临床应用价值。     

63例闭合性脊柱裂胎儿的超声诊断价值分析

目的总结闭合性脊柱裂的产前超声表现及分类,提高产前诊断闭合性脊柱裂的准确率。方法回顾性研究河南省妇幼保健院产前诊断中心产前诊断为闭合性脊柱裂的63例胎儿声像图表现,并与其磁共振成像对比,尸解或手术结果对比,分析其声像图特点。结果产前诊断的63例闭合性脊柱裂,经证实5例为有包块型闭合性脊柱裂,其中脊膜膨出2例,脂肪脊髓脊膜膨出2例,脂肪脊髓裂1例;54例为无包块型闭合性脊柱裂,其中脊髓纵裂36例,终丝脂肪瘤1例,皮毛窦4例,尾端退化综合征13例;1例为脊膜膨出合并脊髓纵裂;1例为开放性脊柱裂合并脊髓纵裂;1例为开放性脊柱裂;1例为尿直肠隔畸形序列征。结论借助超声检查可以有效鉴别有包块型和无包块型闭合性脊柱裂,为明确产前诊断、进行宫内治疗及优生优育提供有效的参考依据。     

脊柱裂胎儿小脑延髓池改变的超声研究

目的探讨超声检测胎儿小脑延髓池（CM）前后径对提示脊柱裂诊断的价值。方法胎儿脊柱裂36例,对照组为相应孕周的108例正常胎儿。经小脑横切面观察胎儿小脑形态、结构,并测量CM前后径。结果36例脊柱裂胎儿,囊性脊柱裂33例,隐性脊柱裂3例。21～36孕周胎儿34例,声像图表现为CM消失;16～20孕周胎儿2例,声像图表现为CM缩小。对照组108例胎儿,6例CM缩小,无CM消失。脊柱裂胎儿CM消失的发生率高于对照组（P〈0．05）。结论孕21周以后胎儿,CM消失是胎儿脊柱裂超声检查重要的间接征象。     

胎儿显性与隐性脊柱裂的超声影像特征

【目的】探讨胎儿脊柱裂直接和间接超声影像特征。【方法】回顾性分析产前超声检查发现并经引产或生产证实的95例胎儿显性及隐性脊柱裂的超声资料。【结果】产前超声诊断显性脊柱裂87例,其间接声像：香蕉脑、颅后窝池消失、柠檬头及侧脑室增脊宽;直接声像：脊柱平行光带连续中断,该处皮肤和软组织回声带中断,可合并脊膜和脊髓膨出,横切而显示椎弓骨化中心向后开放,呈 V 或 U 字形,冠状切面显示后方的两个椎弓骨化中心距离增大。隐性脊柱裂8例,其中7例无小脑和(或)颅后窝池征象,1例颅后窝池缩小为1 mm 无小脑结构的改变。【结论】显性与隐性脊柱裂胎儿有典型超声特征,了解其特征可减少误漏诊。     

胎儿体蒂异常的超声诊断

目的 探讨胎儿体蒂异常的声像图特征和产前超声对其的诊断价值.方法 回顾性分析7例经产前超声检查诊断为体蒂异常的胎儿声像图特点.结果 7例胎儿体蒂异常均表现为前腹壁巨大缺损、脊柱明显弯曲、脐带过短、胎儿紧贴胎盘,其中3例合并胸壁缺损,2例表现有下肢畸形,6例小于孕20周的胎儿有颈部皮肤增厚表现.结论 产前超声诊断对胎儿体...     

产前超声诊断胎儿外耳畸形的价值探讨

目的探讨超声诊断胎儿外耳畸形的声像图特征及临床应用价值。方法回顾分析我院13例胎儿外耳畸形的声像图资料,分析其漏误诊原因。结果产前超声筛查出7例胎儿外耳畸形,漏诊6例。13例外耳畸形中9例为单纯性的外耳畸形,4例合并多系统畸形;8例伴羊水过多。10例行染色体核型分析,诊断为21-三体2例,18-三体3例。结论胎儿外耳畸形有其特殊的声像图表现,产前超声检查胎儿外耳可为产前诊断胎儿畸形提供丰富的诊断信息。     

不同类型胎儿泌尿系发育不良的超声声像图特征及诊断价值

目的分析不同类型胎儿泌尿系发育不良的超声声像图特征及诊断价值。方法随机抽取在我院接受产前超声诊断并确诊为泌尿系统发育不良的84例胎儿作为研究对象,所有胎儿接受病理诊断。比较产前超声诊断符合率,总结超声声像图特征,探究其临床价值。结果经病理学诊断,84例胎儿中有82例确诊为泌尿系发育不良,产前超声诊断符合率为97.62%;产前超声诊断84例泌尿系发育不良胎儿中单纯肾积水占比最高,为65.48%,其次为肾盂积水合并输尿管扩张,占10.71%;声像图特征分析发现单纯肾积水主要表现为肾盂扩张;肾发育不全声像图可见肾脏表面粗糙,肾脏较正常小,存在较强实质回声。结论产前超声诊断具有较高分辨率、图像清晰、诊断符合率高及操作简单等优势,能够有效检出不同类型胎儿泌尿系发育不良。     

产前超声定位胎儿脊髓圆锥的临床意义

目的 探讨产前超声定位胎儿脊髓圆锥的临床意义.方法 回顾分析产前超声诊断胎儿显性脊柱裂10例、隐性脊柱裂2例、骶尾部畸胎瘤4例、腰骶管内脊膜囊肿1例及98例正常胎儿的相关超声资料,总结其声图像特征,并与产后超声或尸检结果对照.结果 (1)显性脊柱裂脊髓脊膜膨出型均显示脊髓圆锥低位;(2)显性脊柱裂单纯脊膜膨出型和隐性脊柱裂脊髓圆锥位置可以正常,也可以低位;(3)骶尾部畸胎瘤、腰骶管内脊膜囊肿及正常对照组均表现脊髓圆锥位置正常.结论 产前超声定位脊髓圆锥能为胎儿脊柱相关疾病是否并脊髓栓系、以及非脊柱裂脊柱区相关疾病的产前诊断提供有价值的信息.     

彩色多普勒超声心动图产前诊断胎儿永存动脉干的价值

目的探讨胎儿永存动脉干的声像图特点,提高对该病的认识。方法回顾性分析我院经随访证实的3例胎儿永存动脉干的产前超声诊断图像,结合相关文献总结该病声像图特点。结果胎儿永存动脉干的声像图有其特征性表现,3例经随访证实为永存动脉干的病例与产前系统超声检查结果一致。结论彩色多普勒超声心动图是观察和诊断胎儿永存动脉干最有价值的影像学方法,有重要临床指导意义。     

胎儿肺部肿瘤超声诊断与临床意义

目的分析胎儿肺部肿瘤超声声像图特征及临床预后。 方法对2011年6月1日至2013年5月31日南京医科大学附属苏州医院产前超声检查发现肺部肿瘤的38例胎儿均随访至产后或引产后,与出生后CT或引产后尸检结果对照,分析胎儿肺部肿瘤产前超声声像图特征。 结果38例肺肿瘤胎儿中产前超声显示20例为肺囊腺瘤,其中Ⅰ型4例,声像图表现为多囊样无回声区;Ⅱ型7例,声像图表现为混合性回声;Ⅲ型9例,声像图表现为增强回声。超声检查后孕妇选择终止妊娠2例,引产胎儿尸检证实均为肺囊腺瘤;6例临床随访过程中胎儿肺部肿瘤消失;11例胎儿顺产后CT检查证实为肺囊腺瘤;1例超声检查后失访。其余18例产前超声显示为隔离肺,肿瘤呈楔形高回声,边界清,彩色多普勒血流成像显示为体循环血供;超声检查后15例胎儿顺产,9例临床随访过程中隔离肺消失,6例产后CT检查证实为隔离肺,3例超声检查后失访。与产后和引产后检查结果对照,34例临床病理资料完整的肺肿瘤胎儿中产前超声正确诊断肺囊腺瘤19例（19/19）,隔离肺15例（15/15）。 结论胎儿肺部疾病产前超声可表现为各种类型的肺部肿瘤图像,早期正确诊断对胎儿预后和临床处理有重要指导意义。     

泄殖腔外翻脊柱畸形的产前超声诊断

目的 探讨产前超声诊断泄殖腔外翻（OEIS综合征）脊柱畸形的价值。方法 收集我院经尸体解剖确诊的29胎OEIS综合征脊柱畸形,分析OEIS综合征脊柱畸形的产前超声声像图,并与产后尸体解剖检查、尸体X线表现进行对照研究。结果 尸体解剖检查证实29胎OEIS脊柱畸形均为闭合性脊柱裂,其中26胎经产前超声检出。24胎有包块型脊柱裂均发生于骶尾部,其中9胎脊膜膨出,12胎脊髓脊膜膨出,3胎脂肪脊髓脊膜膨出;16胎合并脊髓栓系、11胎合并脊柱侧弯、3胎骶尾椎发育不良、4胎合并椎体畸形;2胎包块较大脊柱裂的颅后窝消失。2胎无包块型脊柱裂的产前超声显示存在脊髓栓系。尸体解剖检查证实产前超声所见,发现漏诊3胎有脊髓栓系的无包块型脊柱裂。尸体解剖检查及尸体X线发现29胎均有骶尾椎发育不良。结论 OEIS综合征脊柱畸形常为骶尾部有包块型闭合型脊柱裂,颅脑声像多正常,可合并脊髓栓系、脊柱侧弯、椎体异常。产前超声对OEIS综合征有包块型脊柱裂的检出率高;OEIS综合征无包块型脊柱裂的产前超声可检出脊髓栓系。     

多模式超声在胎儿非严重闭合性脊柱裂筛查中的应用

  目的  研究多模式超声在胎儿非严重闭合性脊柱裂筛查中的临床应用价值。  方法  对医院2017年1月~2020年1月接收的多模式超声产前筛查并诊断为胎儿脊柱畸形的19例病例进行总结,分析多模式超声在产前筛查胎儿脊柱畸形中的价值。结果38 564例孕妇中共19例被诊断为胎儿脊柱裂,其中产前系统超声共检出18例,超声脊柱裂检出率为0.047%（18/38 564）,剩余1例因多次产前检查胎儿均为臀位,未获得可用的影像资料而漏诊,漏诊率为5.26%（1/19）。18例经超声检查提示胎儿脊柱裂者均自愿终止妊娠,并经术后尸检证实。19例脊柱裂胎儿中,开放性脊柱裂15例,闭合性脊柱裂4例。其中15例开放脊柱裂者中合并脑积水者6例,足内翻者4例,产前超声检查中有脑室扩张、颅后窝消失、柠檬头征、室间隔缺损等影像征象。4例闭合性脊柱裂均合并脊髓圆锥低位,1例同时合并椎管内脂肪瘤。  结论  多模式超声检查具有安全、可重复性强等优势,能有效筛查胎儿脊柱裂。      

Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.

OBJECTIVES: To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. METHODS: Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. RESULTS: An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. CONCLUSIONS: A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality.     

A diagnostic approach for the evaluation of spina bifida by three-dimensional ultrasonography.

OBJECTIVE: To describe a prenatal diagnostic method for evaluating spina bifida by three-dimensional ultrasonography. METHODS: Two- and three-dimensional ultrasonography were used to determine the extent of vertebral defects among fetuses with spina bifida. Spinal levels were independently counted from the most caudal thoracic vertebra with a rib (e.g., 12th thoracic rib). A virtual cutting plane was manipulated through a volume-rendered spine to generate optimal multiplanar views for this blinded analysis. Prenatal diagnosis was compared with a postnatal analysis of bony spine defects derived from radiographic films or magnetic resonance imaging. RESULTS: Nine fetuses were examined by two-dimensional ultrasonography (21.8 +/- 3.4 menstrual weeks) and three-dimensional ultrasonography (22.8 +/- 4.4 menstrual weeks). For two-dimensional ultrasonography, the spinal level agreed to within 1 vertebral segment in 6 of 9 infants. In contrast, three-dimensional ultrasonography agreed to within 1 vertebral segment in 8 of 9 infants. Three fetuses had vertebral defect levels on two-dimensional ultrasonography that were 1.5 to 2 segments away from postnatal findings. The same fetuses had results that were within 1 vertebral segment on three-dimensional ultrasonography. Volume rendering showed splayed vertebral pedicles and disrupted vertebrae. An intact meningeal sac was easily rendered in 5 of 9 subjects. CONCLUSIONS: Multiplanar views are generally more informative than rendered views for localizing bony defects of the fetal spine. The level of the defect on three-dimensional ultrasonography correlates well with those on two-dimensional ultrasonography and postnatal imaging studies. This approach may improve characterization of spina bifida by adding diagnostic information that is complementary to the initial assessment by two-dimensional ultrasonography.     

MRI诊断胎儿脊柱脊髓畸形及序列选择

目的探讨MRI诊断胎儿脊柱脊髓畸形的价值及序列选择。方法回顾性分析产前超声疑诊胎儿脊柱脊髓异常且48 h内接受MR针对性脊柱检查(Haste、Trufi和SWI)的30胎,分别与产后(生产或引产)6个月内随访结果(影像学、手术或尸检)对照,分析MRI与超声诊断符合率及MR针对不同病变的序列选择。结果7胎无畸形,15胎椎体畸形(裂椎、半椎体、分隔不全、骶尾椎发育不全),5胎脊髓低位,3胎脊柱裂、脊髓脊膜膨出,4胎脊柱、脊髓复合畸形。产前MRI诊断与随访结果完全一致;产前超声漏诊椎体畸形2胎,脊髓低位4胎,脊膜膨出、脊髓空洞及纵裂各1胎。Haste、Trufi序列可较好地显示脊柱、脊髓结构和畸形,而SWI能清晰显示椎体结构和畸形。结论MR Haste及Trufi序列显示胎儿脊髓及椎管内异常准确性较高,而SWI对显示椎体畸形有独特价值。     

MRI在胎儿脊柱脊髓畸形诊断中的应用及序列选择

目的 探讨MRI在胎儿脊髓脊柱畸形诊断中的价值及序列选择。方法 回顾性分析产前超声筛查疑诊胎儿脊柱脊髓异常且48小时内行MRI针对性脊柱检查30例胎儿资料，并分别与产后（生产或引产）6个月内的随访结果（影像、手术或尸检）对照， 对比MRI与超声诊断符合率及不同病变的MRI序列选择。 结果 阴性7例，椎体畸形（裂椎、半椎体、分隔不全、骶尾椎发育不全）15例，脊髓低位5例，脊髓脊膜膨出3例，脊髓空洞1例，脊髓纵裂2例，其中脊柱脊髓复合畸形4例，伴单侧肾积水1例。产前MRI诊断与随访结果完全一致，产前超声漏诊椎体畸形2例，漏诊脊髓低位4例，漏诊脊膜膨出、脊髓空洞及纵裂各1例。结论 MRI Haste及Trufi在显示胎儿脊髓及椎管内异常中有较高的准确性，而SWI对显示椎体畸形有独特价值。     

内寄生胎产前超声影像学特征与病理对照分析

目的总结内寄生胎产前超声影像学特征。 方法对2009年1月至2019年1月湖北省妇幼保健院产前超声检出胎体肿块,并经出生后手术及引产后病理检查证实的8例内寄生胎影像诊断资料进行回顾性分析。 结果产前超声声像图显示：8例胎儿胎体肿块均为囊实性,位于腹膜后4例,位于骶尾部2例,位于面部2例;最早发现胎体肿块为孕18^＋2周;其中2例发现胎体肿块为临产前。肿块最小径1.1 cm×1.1 cm,最大径16.0 cm×10.0 cm;与周围组织分界清,肿块增大致周围脏器不同程度受压移位。超声诊断：8例胎儿胎体肿块中4例最早于孕22^＋2周精准诊断为内寄生胎;2例胎体肿块产前诊断为畸胎瘤;2例骶尾部肿块产前鉴别不清是畸胎瘤或内寄生胎。临床结局：4例腹膜后胎体肿块在宿主胎儿出生后手术康复,随访至今未见复发;其余4例超声检查后引产。出生后检查：8例宿主胎儿共10个寄生胎,2例为双寄生胎;病理检查显示寄生胎内最多的组织是骨或软骨和肢芽（9/10）;其次为脊柱轴、皮肤和血管蒂（7/10）,四肢长骨和毛发（6/10）,肠管（5/10）。产前超声与产后病理诊断结果对照：产前超声正确诊断内寄生胎4例（4/8）,寄生胎5个（5/10）。病理补充超声影像显示6个寄生胎有毛发、5个有肠管、1个有肾、合并畸形2个有脐膨出、2个为无脑畸形;1个寄生胎产前超声未检出闭合性脊髓脊膜膨出;1例产前超声认为是大寄生胎的骨性结构,出生后病理证实为双内寄生胎的小寄生胎,其脊柱轴为发育不全椎骨融合而成。 结论内寄生胎产前超声声像图有特征性表现,系统规范的产前超声对临床咨询和胎儿出生后选择手术治疗有重要意义。     

OEIS complex: prenatal ultrasound and autopsy findings.

OBJECTIVE: To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, bladder exstrophy, imperforate anus, spina bifida) complex. METHODS: This was a retrospective study of the nine cases with OEIS complex diagnosed at our center using detailed fetal ultrasound during the last 10 years. We summarized the fetal ultrasound findings that led to the diagnosis and compared them with the autopsy results. RESULTS: All affected fetuses were diagnosed using detailed fetal ultrasound after 16 weeks' gestation. The main prenatal findings were omphalocele, skin-covered lumbosacral neural tube defect, non-visualized bladder and limb defects. Prenatal sonography failed to detect the abnormal genitalia, bladder exstrophy and anal atresia. All cases had abnormalities in a 'diaper distribution', which helped in making the prenatal diagnosis. Eight of the nine couples chose to terminate the pregnancies following multidisciplinary counseling. The pregnancy that was continued was a case with dizygotic twins discordant for OEIS, and the affected fetus died in utero. CONCLUSIONS: The combination of the following ultrasound findings: ventral wall defect, spinal defect and a non-visualized bladder with or without limb defects, are characteristic of OEIS complex. Diagnosis can be made with confidence as early as 16 weeks' gestation, although earlier diagnosis may be possible.     

Prenatal diagnosis of diastematomyelia and tethered cord - a case report and review of the literature

Diastematomyelia is a rare form of occult spinal dysraphism. It is characterized by longitudinal clefting and separating of the spinal cord by a bony or fibrous spur. Diastematomyelia is associated with other anomalies, i. e. spina bifida, scoliosis, visceral malformations or anomalies of the overlying skin. Prenatal diagnosis is based on fetal ultrasound supplemented by fetal MRI. We present a case of diastematomyelia and prenatal diagnosis in the 23rd gestational week using routine ultrasound scanning and confirmation by fetal MRI. After vaginal delivery at term, the child's development is normal. Prenatal diagnosis of isolated diastematomyelia is challenging. Management and prognosis are still controversial as only few cases have been reported. Affected fetuses might benefit from early diagnosis enabling surgical intervention before the development of neurological sequelae.