胎儿头颈部血管瘤产前超声表现及临床结局的研究

目的:探讨胎儿头颈部血管瘤超声声像表现及胎儿临床结局.方法:收集2005年8月-2010年12月在中山大学附属第一医院产前超声检查可疑胎儿头颈部血管瘤者11例,分析其超声声像特征,追踪随访其临床结局.结果:1例胎儿出生后诊断为淋巴管囊肿,共10例确诊为头颈部血管瘤被纳入研究,均未发现合并其他异常.10例胎儿头颈部血管瘤超声表现为囊实性混合回声(6例)或实性回声肿块(4例),彩色多普勒超声检查肿块实性部分可探及条状彩色血流信号.囊实性混合回声型组引产1例,出生5例,1例在妊娠后期肿块自行消退,实性回声型组引产1例,出生3例,1例在1岁内自行消退.所有出生病例均未发生死亡或心力衰竭等不良结局.结论:胎儿头颈部血管瘤声像表现为囊实性混合回声型或实性回声型,该病预后较好,部分病例可自行消退.对产前超声怀疑胎儿头颈部血管瘤病例应选择定期超声监测.     

超声诊断胎儿型多囊肾1例

患者女,25岁.孕7个月,孕1产0多囊肾病、未治.孕期行常规产前超声检查见:胎头位于脐上,胎儿双顶径:69 mm,股骨长:46 mm,胎儿脊柱连续完整,胎心及胎动良好,胎盘位于子宫前壁,成熟度Ⅰ级,羊水深度最大前后径:31 mm,羊水暗区内充满点状回声,膀胱未显示.于胎儿脊柱旁探查:胎儿双肾体积增大,双肾内可探及多个无回声区,最大:15 mm×13 mm,未见正常集合系统,双肾皮髓质分界不清,实质回声增强(图1).超声诊断:(1)中孕单活胎妊娠;(2)胎儿双肾改变(考虑胎儿型多囊肾).引产后经尸检证实.     

超声诊断婴儿型多囊肾1例

孕妇,22岁,G3P032 3周,行胎儿常规超声检查结果如下:胎儿头位,颅骨光环完整,双顶径7.4cm,脊柱排列整齐,连续性好,生理弯曲度正常,胎心率138次/分,胎儿股骨长径5.5cm,胎盘位于子宫后壁,成熟度I级,胎儿肝脏实质回声均质,肝门部未见明显异常,双肾体积增大,左肾大小约5.2cm×3.1cm×3.1cm,右肾大小约5.5cm×3.3cm×2.5cm,双肾实质回声弥漫增强,皮髓质分界不清(图1),羊水最大暗区约1.8cm,羊水指数约3.5cm。超声诊断:①宫内单活胎;②胎儿双肾体积增大,回声增强(提示婴儿型多囊肾);③羊水少。后经利凡诺羊膜腔穿刺引产分娩出一男婴,外观未见异常,…     

胎儿颅内出血超声联合磁共振成像诊断与妊娠结局

目的探讨产前超声联合磁共振成像（MRI）诊断胎儿颅内出血（ICH）的临床意义。 方法2012年7月至2014年6月在广州市妇女儿童医疗中心产前超声检查的胎儿31 200例,对应用标准化超声切面和磁共振扫描两种影像学检查方法最终确诊为颅内出血的20例胎儿超声声像图特征及磁共振图像进行分析,并对出血胎儿行脐血病原检测及染色体检查,追踪胎儿妊娠结局。 结果20例胎儿颅内出血均于中、晚孕期发现,产前及产后影像检查、脐血病原检测和染色体检查结果：（1）产前超声表现：20例胎儿中超声显示室管膜区囊状或筛网状回声3例,脑室内团状、片状或条状高回声9例,脑室内不规则低回声2例,脑实质区见异常不规则稍低回声2例,小脑半球内高回声伴发小脑半球脑组织液化1例,脉络丛回声欠均匀1例,合并单侧或双侧脑室增宽17例,合并脑组织受压或脑中线偏移各1例。（2）胎儿磁共振影像检查16例,其表现为：16例胎儿脑室内团状、斑片状或线状T₂W1低信号影,T₁W1高信号影,其中5例合并脑皮质占位或发育异常。（3）超声和磁共振检出胎儿颅内出血合并其他结构异常6例,其中合并唇腭裂畸形1例,脊柱畸形2例,其他部位脑发育畸形3例。（4）脐血及染色体检查结果：20例胎儿中2例脐血检查诊断为巨细胞病毒感染阳性;20例胎儿染色体检查结果均未见异常。胎儿妊娠结局：经随访,超声及磁共振检查后孕妇选择引产16例,产后存活3例,其中1例出现神经系统并发症;2例正常,1例失访。 结论胎儿颅内出血有特征性超声及磁共振表现,超声多显示颅内筛网状、团片状高回声,合并脑室增宽,MRI T₂W1示团片状或线状低信号影,T₁W1示高信号影。MRI有助于出血定位诊断,定期超声监测有助于产前明确诊断及临床干预治疗。     

胎儿肠管扩张与妊娠结局相关性分析

目的探讨胎儿肠管扩张产前超声异常表现及妊娠结局相关性。方法对2009年7月至2013年6月在南京医科大学附属苏州医院苏州市立医院产前超声检出肠管扩张的118例胎儿超声声像图表现及妊娠结局进行总结分析。结果118例胎儿产前超声表现及妊娠结局：（1）小肠扩张101例：98例肠管轻度扩张,最宽内径为7．2～22．6mm,31例合并唇腭裂、羊水过多、肠管强回声等其他异常超声表现。1例唇腭裂胎儿于妊娠25周引产,97例妊娠结局良好;3例肠管明显扩张,超声动态观察肠管进行性增宽,最宽内径均超过30．0mm,伴羊水持续增多,妊娠34周宫内死亡2例,1例出生后1周因肠梗阻死亡。（2）结肠扩张17例,16例34周后发现结肠扩张,最宽内径均小于30．0mm,伴羊水过多或减少,胎儿肠管强回声等软指标异常,妊娠结局良好;1例中孕期发现羊水过多及胎儿下腹部“双叶征”团块,产后证实为肛门闭锁。结论肠管扩张胎儿多数在超声随访过程证实为一过性肠管扩张,妊娠结局转归良好：但肠管扩张动态观察过程中小肠内径持续增宽,扩张程度加重、羊水量持续增多,胎儿妊娠结局不良;如检出胎儿肠管强回声,发生肠梗阻的可能性较低;超声检查怀疑结肠梗阻及肛门闭锁的胎儿,观察肠道形态变化更有意义。     

胎儿颅内出血的产前超声特征与妊娠结局

目的探讨胎儿颅内出血的产前超声声像图特征.方法对30例颅内出血胎儿产前及产后颅脑超声声像图进行对照分析.结果30例颅内出血胎儿超声声像图特征:(1)颅内异常回声特征:30例均显示颅内异常占位回声(双侧异常回声14例,单侧异常回声16例),但出血量、出血时间不同异常回声表现不同;其中15例(15/30,新鲜出血期)颅内出血区呈高回声,11例(部分液化期)颅内出血区呈混合性回声,4例(完全液化期)颅内出血区呈囊性无回声.(2)异常回声区边界及血流特征:异常回声区边界清晰,彩色多普勒血流成像示异常回声区内部及周边未见明显彩色血流信号.(3)超声分级诊断与随访结果:超声诊断Ⅰ级颅内出血17例(均为室管膜下出血),表现为单侧或双侧室管膜下高回声区、混合性回声区或囊性无回声区,大小3~21 mm,双侧侧脑室无扩张(侧脑室宽度均<15 mm);胎儿预后较好,颅脑超声随访(12例)均证实为颅内出血,引产1例,失访4例.Ⅱ级颅内出血5例,均无脑室扩张,单侧或双侧侧脑室内高回声区,大小8~28 mm,与脉络丛分界尚清,双侧侧脑室无扩张(侧脑室宽度均<15 mm);产后颅脑超声随访证实2例为颅内出血,引产2例,失访1例.Ⅲ级颅内出血6例,脑室内出血合并脑室扩张,单侧或双侧脑室内呈高回声或混合性回声区(单侧或双侧侧脑室宽度≥15 mm);胎儿MRI诊断颅内出血1例,引产5例,失访1例.Ⅳ级颅内出血2例(双胎1例),Ⅰ~Ⅲ级脑出血合并脑室周围实质内大范围出血,脑室周围实质呈高回声或混合性回声区;胎儿MRI诊断颅内出血1例,2例均引产(1例双胎之一胎死宫内).(4)颅内出血合并异常:合并宫内发育迟缓5例,胎盘异常3例,羊水异常3例.(5)临床结局:14例临床预后较好(Ⅰ级12例,Ⅱ级2例),产后新生儿存活,无严重神经系统并发症;引产10例预后均较差(Ⅰ级1例,Ⅱ级2例,Ⅲ级5例,Ⅳ级2例),失访6例.结论胎儿颅内出血产前超声表现为颅内异常占位回声区,回声边界清晰,其内无血流信号,超声分级诊断有助于判断胎儿颅内出血严重程度,可估测胎儿预后和协助产前咨询.     

先天性肝内胆管囊状扩张症合并常染色体隐性多囊肾的产前超声特征分析

目的分析先天性肝内胆管囊状扩张症(Caroli病)合并常染色体隐性多囊肾(ARPKD)的产前超声特征。方法回顾性分析我院经基因检测结果确诊的5例Caroli病合并ARPKD胎儿的临床资料,总结其产前超声特征及伴发畸形情况。结果5例胎儿均检出位于染色体6p12的多囊肾/多囊肝病变1基因存在缺陷。产前超声均清晰显示为肝脏内不同程度肝内胆管扩张,双肾体积弥漫性增大、回声增强,皮髓质界限不清。其中合并羊水过少3例,单脐动脉1例,室间隔缺损1例,单侧下肢长骨发育不良并足内翻1例。结论Caroli病合并ARPKD胎儿的典型声像图表现为不同程度肝内胆管扩张、双肾体积增大并回声增强,可合并羊水过少。     

超声诊断阴道壁囊肿1例

患者,28岁。孕6月。自诉腹痛就诊。在外院诊断中期妊娠合并盆腔囊肿。超声检查见:子宫增大,宫腔内见单胎中期妊娠,胎儿存活。胎儿各项指标正常。子宫颈外口下方阴道内见一4．5 cm×3．7 cm圆形薄壁无回声区,边界光滑完整,后方回声增强与宫颈分界清楚。CDFI:无回声区内及周围未见血流信号。超声诊断:①宫内单胎中期妊娠;②阴道壁囊肿。妇科     

胎儿盆腔异位肾超声表现1例

孕妇,32岁.妊娠32周.外院疑胎儿畸形转来我院.彩超所见:单胎,双顶径8.4 cm,股骨长6.1 cm,胎心搏动规律,心率约140次/min,羊水厚约4.2 cm,胎动可.脊柱连续完整.心、肺、肝、胃泡及膀胱存在,位置正常.胎儿右肾区未见肾脏回声.左肾形态体积增大,大小约5.3 cm×2.3 cm,肾实质回声欠均匀.于膀胱旁可见肾脏回声,大小约3.2 cm×2.1 cm,外形规则,皮、髓质分界清(图1).脐动脉S/D值:2.7,胎盘厚度约3.2 cm,Ⅱ级,位于前壁.超声诊断:(1)单胎晚期妊娠;(2)胎儿盆腔异位肾.     

胎儿脉络膜囊肿的临床价值探讨

目的：探讨胎儿脉络膜囊肿的临床意义。方法;分析1998年7月至2000年7月期间在本院行超声检查并在本院分娩的孕妇2600例。结果：中期妊娠检查时发现胎儿脉络膜囊肿10例,其中单侧9例,双侧1例,均未合并其他超声检查异常,随访至孕28周脉络膜囊肿消失,出生后新生儿无异常发现。结论：中期妊娠超声检查时发现胎儿脉络膜囊肿,应检查有无其他畸形,合并其他畸形时,最好作胎儿染色体检查。     

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

OBJECTIVE: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management. METHODS: A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed. Ultrasound analysis included: amount of amniotic fluid, bladder size, renal length, presence or absence of renal cysts and size of renal pelves, and was focused on parenchyma echogenicity and status of corticomedullary differentiation. Postnatal follow-up was reviewed. RESULTS: Of the 27 patients included in the study, 25 had hyperechogenic renal cortex and 20 had hypoechogenic medulla resulting in increased corticomedullary differentiation (CMD). In six cases, the medulla was hyperechogenic leading to absent or decreased CMD. One patient had normal cortical echogenicity and CMD. Renal cysts were present during the prenatal period in four patients (at 22 weeks in one case and after 30 weeks in three cases). In 12 patients, the cysts appeared after birth (within the first 6 months of postnatal life in 10 cases and by the age of 1 year in two cases). Elevated blood pressure was observed in only two cases and moderate chronic renal failure in one case. CONCLUSION: We have described the sonographic presentation in fetuses with ADPKD: moderately enlarged hyperechogenic kidneys with increased CMD. Although not specific to ADPKD, these findings should prompt familial screening. Other prenatal sonographic features (absent or decreased CMD and cortical cysts) are less frequent.     

羊水量正常时胎儿肾发育不良的超声诊断及临床意义

目的 探讨产前超声检查对于羊水量正常时胎儿肾发育不良的诊断价值和临床意义.方法 于孕中晚期对羊水量正常胎儿中发现的单侧或双侧肾超声表现异常(包括大小、回声、形态异常,出现囊肿等)病例进行系统二维超声检查、孕期及生后随访观察、病理学检查等,并进行总结分析.仅有肾盂增宽的胎儿不包括在本组研究中.结果 发现羊水量正常但单侧或双侧肾发育不良的胎儿11例.其中单侧多囊性肾发育不良5例,4例不合并其他异常,1例合并同侧手缺如;单侧肾缺如2例,其中1例不合并其他畸形,另1例合并多发畸形包括脑积水、骶尾部脊柱裂、同侧桡骨缺失及单脐动脉,符合VACTERL综合征;盆腔.肾1例,马蹄肾1例,生后超声证实;常染色体显性遗传多囊肾1例,胎儿一侧肾可见多发囊肿,合并心脏横纹肌瘤,孕妇为双侧多囊肾;双侧肾发育不良1例,产前超声表现为双侧肾回声增强.结论 单侧多囊性肾发育不良是羊水量正常时产前超声最常检出的胎儿肾发育不良性疾病.根据产前超声表现并结合家族史,能在大多数胎儿肾发育不良病例中进行病因学诊断并帮助判断预后.     

Posterior urethral obstruction. Prenatal sonographic findings and clinical outcome in fourteen cases

Fourteen cases of fetal urethral obstruction were reviewed retrospectively. The purpose of this study was to emphasize the following: 1) prenatal sonographic findings: 2) clinical outcome: and 3) associated congenital anomalies. Decreased amniotic fluid volume complicated 12 pregnancies (86%). A dilated posterior urethra was identified in nine fetuses (64%) and an enlarged bladder in 13 (93%). Evaluation of the fetal kidneys revealed hydronephrosis in 81%, increased parenchymal echogenicity in 73% and macroscopic renal cysts in 15%. There were seven live births, but only two neonates survived beyond 5 weeks. Pulmonary hypoplasia contributed to the five postnatal deaths. Associated congenital anomalies were noted at autopsy in six cases.     

产前超声诊断三胎妊娠伴双胎无心脐动脉反向灌注序列征

目的总结三胎妊娠伴双胎无心脐动脉反向灌注序列征（TRAPS）胎儿产前超声图像特点。 方法对2001年4月至2017年4月经湖北省妇幼保健院产前超声诊断和生后检查确诊的6例三胎妊娠伴TRAPS胎儿超声与病理检查结果进行对照分析,总结TRAPS胎儿产前超声图像特点。 结果产前超声显示：（1）6例三胎妊娠伴TRAPS胎儿中无心畸胎均有发育不良的下肢（1例有发育不良上肢）,无胸腔、无心脏结构及心管搏动,5例无头颅结构,1例有发育不良头;4例有脊柱和腹腔结构;4例为单脐动脉,5例伴全身皮肤水肿;彩色多普勒示脐动脉反向灌注朝向胎儿体内,2例产前超声末显示脐动脉及胎儿体内血流。（2）6例泵血儿解剖结构均正常,羊水过多2例,羊水正常4例。胎儿期发生心功能不全3例（1例中孕早期好转存活,2例宫内死胎）。（3）6例第三胎儿中5例解剖结构正常,1例多发畸形。胎儿预后：6例三胎妊娠伴TRAPS胎儿中1例剖宫产产下2个正常男婴,1个死胎（无心畸胎）;其余5例三胎均预后不良（5例泵血儿中4例宫内死胎,1例早产死亡;5例第三胎儿中1例宫内死胎,2例早产死亡,2例引产;5例无心畸胎中4例宫内血流阻断,1例生后死胎）。产后病理检查显示6例均为三胎妊娠伴TRAPS,其中4例为双绒毛膜三羊膜三胎妊娠,1例为双绒毛膜双羊膜三胎妊娠;1例为单绒毛膜三羊膜三胎妊娠。 结论三胎妊娠伴TRAPS为罕见而严重的多胎妊娠并发症,产前超声有特有的声像图特点,彩色多普勒超声有较高的诊断价值。     

产前超声诊断孤立性胎儿肾脏实质回声增强预后情况的Meta分析

目的系统评价产前超声诊断为孤立性胎儿肾脏实质回声增强(IHEK)患者的不同妊娠结局。方法计算机检索PubMed、EMbase、Web of Science、WanFang Data和CNKI数据库,搜集产前超声诊断为IHEK患者不同妊娠结局的横断面调查,检索时限均为1990年1月至2021年1月。由2名研究者独立筛选文献,提取资料并评价纳入研究的偏倚风险后,采用R 3.5.2软件进行Meta分析。结果共纳入9个横断面调查,包括348例患者。Meta分析结果显示:产前超声诊断为IHEK患者的活产率为79%[95%CI(69%,88%)]、终止妊娠/新生儿死亡(TOP/NND)发生率为30%[95%CI(15%,45%)]、正常肾脏发生率为34%[95%CI(15%,53%)]、常染色体隐性多囊肾(ARPKD)发生率为21%[95%CI(12%,30%)]、常染色体显性多囊肾(ADPKD)发生率为13%[95%CI(5%,21%)]、多囊性肾发育不良(MCDK)发生率为4%[95%CI(2%,7%)]。亚组分析结果显示,羊水正常组的预后明显好于羊水减少组。结论当前有限证据表明,产前超声诊断为IHEK患者不良妊娠结局发生率较高,而IHEK伴羊水量正常时预后较好,IHEK伴羊水量少时预后较差。受纳入研究数量和质量的限制,上述结论尚待更多高质量研究予以验证。     

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.     

羊水过少的处理与治疗

近年来羊水容量监测成为产前监测的重要内容之一。超声检查是诊断羊水过少最简单而准确的方法。羊水过少在不同孕期相应的处理不同。发现羊水过少合并胎儿畸形,应尽早终止妊娠。对于妊娠未足月羊水过少者应行增加羊水量期待治疗,妊娠足月发现羊水过少者应迅速终止妊娠。加强产前监护,及早发现病因是羊水过少临床处理的关键,对降低剖宫产率及改善母婴预后具有重要意义。     

False diagnosis of renal agenesis on fetal MRI.

We report a twin pregnancy in which prenatal ultrasound revealed anhydramnios and bilateral absence of the kidneys in both fetuses. To overcome the difficulties faced in obtaining accurate information on fetal ultrasound in cases with oligohydramnios, an attempt was made to use fetal magnetic resonance imaging (MRI) to confirm the renal status. However, while the fetal MRI showed renal agenesis in both twins, postnatal follow-up revealed that one twin, which survived, had a small unilateral kidney not seen antenatally on fetal ultrasound or MRI. The second twin had bilateral renal agenesis and died of pulmonary hypoplasia. Care should be taken when using fetal MRI to replace fetal ultrasound in cases with poor visibility.     

Oligohydramnios associated with bilateral multicystic dysplastic kidneys: prenatal diagnosis at 15 weeks' gestation

Lethal fetal renal malformations are invariably associated with oligohydramnios in late antennatal ultrasound examinations. Controversy exists concerning the contribution of fetal urine production to amniotic fluid volume prior to 20 weeks' gestation. We report a pregnancy complicated by maternal gold usage and fetal bilateral multicystic dysplastic kidney disease in which oligohydramnios was detected at 12 weeks' gestation. To our knowledge, no previous cases of lethal fetal renal anomalies have been made in the first trimester. The early diagnosis of fetal renal anomalies, fetal renal contribution to amniotic fluid production, and possible teratogenicity of gold therapy is discussed.     

产前超声与MRI对胎儿先天性肺囊腺瘤样畸形分型的鉴别诊断

目的分析产前超声与MRI对胎儿先天性肺囊腺瘤样畸形分型的鉴别诊断。方法选取2018年1月至2019年8月本院收治并已被确诊为先天性肺囊腺瘤样畸形的36例胎儿作为研究对象,采用奇偶分组法将其分成参照组(18例)和研究组(18例)。参照组行产前MRI诊断,研究组行产前超声诊断。比较两种诊断方式的准确率、漏诊率、误诊率、囊肿体积大小以及异常和病灶位置的检出情况。结果研究组胎儿接受产前超声诊断的准确率为94.44%,高于参照组胎儿接受MRI诊断的83.33%,但两组数据比较,差异无统计学意义(P>0.05);参照组胎儿的误诊率为5.56%,高于研究组的0.00%,但两组数据比较,差异无统计学意义(P>0.05)。两组胎儿囊肿体积平均值比较,差异无统计学意义(P>0.05)。MRI检查中,胎儿异常发生率为33.33%(6/18),双侧病灶1例、单侧病灶17例;产前超声检查中,胎儿异常发生率为22.22%(4/18),双侧病灶2例、单侧病灶16例,两组胎儿异常发生率比较,差异无统计学意义(P>0.05)。结论产前超声与产前MRI均可对胎儿先天性肺囊腺瘤样畸形作出准确的观察及诊断,对疾病的分型和预后具有十分重要的作用,其中产前超声检查具有操作简便、价格实惠的特点,值得临床推广。