单脐动脉合并胎儿先天性结构畸形的诊断及临床意义

目的探讨单脐动脉合并胎儿先天性结构畸形的诊断,为临床诊治病人提供依据。方法回顾性分析2008年1月1日～2010年6月1日在我科产前筛查诊断的297例单脐动脉及91例单脐动脉合并胎儿先天性结构畸形的超声特点,追踪其妊娠结局,并于产后新生儿特殊检查、或引产后尸体解剖及病理检查结果相对照。结果本研究43572例中孕胎儿中单脐动脉297例发生频率是0.68%,单脐动脉中合并胎儿先天性结构畸形91例,发生率30.64%。合并畸形中居前三位的分别为心血管系统、泌尿系统、中枢神经系统。同时发现单脐动脉合并多发畸形较单发畸形多见。结论单脐带动脉可引起较高畸形发生率,准确诊断单脐动脉合并胎儿先天性结构畸形具有重要的临床意义。     

胎儿肺动脉起源异常8例尸体解剖分析

目的 对胎儿先天性肺动脉起源异常进行分析,提高该疾病诊断的精准性。方法 回顾性分析8例胎儿先天性心脏畸形病例,均经尸体解剖证实,检查胎儿心血管畸形及内脏的畸形情况,对肺动脉异位起源进行分析总结。结果 肺动脉异位起源8例,其中男胎4例,女胎4例,孕期为孕21～28周。右肺动脉起自升主动脉1例,同时存在主-肺动脉间隔缺损、主动脉弓离断并室间隔完整,即Berry综合征。双侧肺动脉融合起自左头臂干1例,患者伴肺动脉闭锁等多种心血管畸形及心外脏器畸形。左肺动脉和右肺动脉分别起自不同主动脉或分支3例,均伴随肺动脉闭锁,1例左肺动脉起自左头臂干,右肺动脉起自降主动脉及右侧动脉导管;1例左肺动脉起自右动脉导管,右肺动脉起自右锁骨下动脉;1例左肺动脉起自左动脉导管,右肺动脉起自降主动脉。左肺动脉吊带3例,肺动脉主干发出右肺动脉,右肺动脉发出左肺动脉形成血管环。结论 胎儿肺动脉异位起源是一种少见血管畸形,其走行复杂多样,可伴随心内畸形及心外脏器畸形。     

产前超声诊断胎儿肺动脉缺如2例并文献复习

目的探讨胎儿肺动脉缺如的声像图特点,提高对肺动脉缺如的认识,减少漏诊及误诊。方法回顾性分析2例胎儿肺动脉缺如声像图资料,总结其产前诊断经验并复习相关文献。结果肺动脉缺如2例:右肺动脉近端缺如1例,右位主动脉弓,右肺动脉远端由动脉导管与头臂干相连;左肺动脉近端缺如1例,左肺动脉远端由动脉导管与头臂干相连。结论肺动脉缺如的产前超声声像图表现具有特征性,三血管-肺动脉分支切面的"八"字征及动脉导管弓切面的"三指"征消失,患侧肺动脉一般由动脉导管与主动脉弓或其分支发出;冠状切面能更好显示患侧肺动脉远端与大血管的关系及血供状况。     

胎儿超声心动图在诊断先天性心脏病中的临床意义

目的探讨超声心动图在产前筛查胎儿先天性心脏病的作用。方法以胎儿四腔心切面为基础,左心长轴切面,左、右室流出道及心底短轴、主动脉弓和三血管为主要切面。对1021例22w~28w胎儿心脏进行筛查,发现严重心脏畸形者予以引产,其它异常者追踪至分娩,进行新生儿超声心动图检查,明确先天性心脏病类型。结果发现胎儿各种先天性心脏畸形40例（伴胎儿多发畸形5例）。其中：室间隔缺损10例,心内膜垫缺损4例,法洛氏四联症5例,单腔心1例,左、右心发育不良各1例,右室双出口2例,三尖瓣下移畸形1例,永存动脉干1例,完全性大动脉转位2例,矫正型大动脉转位2例,心脏肿瘤3例,右位心1例,完全性肺静脉畸形引流1例,主动脉狭窄2例,动脉导管提前收缩2例,动脉导管走形扭曲1例。结论胎儿超声心动图是产前筛查胎儿先天性心脏病的有效方法。     

胎儿胼胝体病理改变及临床分析

目的探讨围产期胎儿胼胝体发育不全病因及发病机制。方法采用超声及MRI检查胎儿胼胝体病发育不全者205例,对胎儿尸体解剖确诊胎儿胼胝体异常者14例进行分析。结果 205例胼胝体异常患者,超声检查发现胼胝体发育不良142例,胼胝体缺如63例;MRI诊断胼胝体发育不良113例,胼胝体缺如92例;染色体检查有9例存在染色体拷贝数变异;14例尸体解剖存在胝体发育不良9例,5例胼胝体缺如。结论在超声诊断及MRI结合有助于胼胝体发育不全或缺失的筛查,胎儿尸体解剖对胼胝体异常诊断提供有利依据,具有重要的临床诊断价值。     

产前超声在胎儿先天性骨骼系统畸形的诊断价值研究

目的探讨产前超声在胎儿先天性骨骼系统畸形中的诊断价值。方法选取2015年3月～2018年3月间于我院行常规产前超声检查的364例孕妇作为主要研究对象,对经产前超声检查确诊为骨骼系统畸形的胎儿行引产后采用放射X线诊断及解剖尸检结果进行比较,分析产前超声检查在先天性骨骼系统畸形胎儿中的诊断价值。结果参与研究的364例孕妇中,经引产后采用放射X线诊断及解剖尸检证实为骨骼系统畸形的胎儿有26例,占7.14%,其中产前超声检查检出21例,5例漏诊,漏诊率为19.23%;产前超声检查检出的21例骨骼系统畸形胎儿中,1例肢体姿势异常、1例小腿缺如、2例椎体异常、2例四肢短小、2例手部缺如、2例桡骨缺如、5例多(并)指、趾、6例足内翻,经产后采用放射X线诊断及解剖尸检结果表明,漏诊1例肢体姿势异常、1例椎体异常、1例手部缺如、2例多(并)指、趾,产前超声检查的总检出率为80.77%。结论产前超声检查在先天性骨骼系统畸形胎儿中的诊断准确度较高具有较高的应用价值,需特别注意在产前各时期均行超声检查,可提高畸形胎儿的检出率,防止误诊、漏诊情况发生,利于优生优育及提高人口素质。     

无脑及多发畸形一例

<正> 在死亡胎儿的调查中,发现一例先天性多发畸形,现报告如下: 男性胎儿,体重400克,下肢长10.5厘米,胸围17厘米。Ⅰ.无脑畸形(照片):具有无脑儿容貌,颅盖及脑缺如,被室管膜所代替,颈部很短,眼球突出,面部和胸部的表面处在同一额状面上。2.脊柱裂:脊柱裂较大,     

超声心动图诊断胎儿期动脉导管依赖型先天性心脏病的价值

目的探讨超声心动图对胎儿期动脉导管依赖型先天性心脏病的诊断价值。方法选择超声诊断为胎儿期动脉导管依赖型先天性心脏病孕妇15例,年龄21~45岁,平均年龄28.7岁;孕周20~36周,平均孕周29.0周。行产前胎儿、生后婴儿超声心动图,对引产胎儿行病理解剖检查。分析胎儿期、生后婴儿超声心动图表现,并与病理解剖结果对照。结果 15例动脉导管依赖型先天性心脏病胎儿,其中Ⅰ型8例,Ⅱ型5例,Ⅲ型2例。14例引产,其中12例病理解剖检查证实为动脉导管依赖型先天性心脏病,2例未行病理解剖检查。1例正常分娩,产前误诊为主动脉弓缩窄,产后超声证实为主动脉弓离断。引产后经病理检查证实12例与超声诊断结果一致,超声诊断正确率85.7%。结论超声心动图作为一种可靠方法,对产前诊断胎儿期动脉导管依赖型先天性心脏病具有重要价值,可指导临床优生选择和产后及时救治。     

胎儿胼胝体发育不全产前MRI的诊断价值

目的探讨产前胎儿胼胝体发育不全的MRI诊断价值。方法运用磁共振快速扫描序列进行扫描,回顾性分析21例胎儿胼胝体发育不全的MRI表现。结果本组胎儿胼胝体发育不全中完全性胼胝体缺如15例,胼胝体部分缺如6例,其中11例伴有其他先天性脑部畸形,交通性脑积水2例,脑萎缩1例,脑室扩大伴枕大池增宽2例,Dandy-Walker畸形2例,蛛网膜囊肿1例,中线脂肪瘤1例,脑纵裂池蛛网膜囊肿1例,灰质异位1例。结论 MRI对胎儿胼胝体发育不全有较高的诊断价值,在产前超声怀疑胼胝体异常时,MRI是最好的补充手段,其能明确诊断胼胝体是否缺如,是否伴有其他脑部畸形,为临床提供可靠的诊断依据,对预后评估具有重要价值。     

先天性单肾缺如7例

先天性单肾缺如７例黄志仪①先天性肾缺如属胚胎发育畸形，具有临床意义的是单肾缺如，也称孤立肾或独肾，因双肾缺如胎儿无法生存，临床上少见，作者自１９９１年７月至１９９６年７月发现７例，报道如下：１临床资料本组男３例，女４例。年龄平均２７．５（１６～４１）...     

Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.     

Right-sided aortic arch and tetralogy of Fallot in humans--a morphological study of 10 cases.

INTRODUCTION: A right-sided aortic arch (RAA) represents a rare anomaly of the cardiovascular system. In situs solitus, RAA is typically associated with malformations of the cardiac outflow tract such as tetralogy of Fallot (TOF). RAA is classified according to the course and ramification pattern and the position of the arterial duct. Varying data on the frequency of the RAA ramification patterns are reported in the literature. METHODS: We examined 10 formalin-fixed human specimens aged 3 weeks to 10 years. In each case, we investigated the course of the aortic arch, its ramification and the position and course of the arterial duct/ligament as well as associated cardiac malformations. RESULTS: Three different ramification patterns became evident: mirror-image branching (n=7), aberrant left subclavian artery (n=2) and isolated left subclavian artery (n=1). The arterial duct was situated either on the left side connecting the left pulmonary artery to the left subclavian artery (n=6) or on the right-hand side between the right pulmonary artery and the aortic arch (n=3). The duct was absent in one case. The most frequent combination was a mirror-image branching pattern with a left-sided arterial duct (n=4). CONCLUSIONS: The various ramification patterns of the RAA are explained by differences in growth and involution of the embryonic double-aortic arch "anlage." Genetic factors as well as mechanical influences may be involved in the aetiology of RAA. The percentage of the various RAA patterns strongly depends on the examination material available.     

MR imaging of non-visualized pulmonary arteries at angiography in patients with congenital heart disease.

The aim of this study was to evaluate whether MR could depict pulmonary arterial anatomy in more detail than routine angiography in patients with congenital interruption or acquired occlusion of the left pulmonary artery or pulmonary atresia. This study included 10 patients with tetralogy of Fallot (n=6) or pulmonary atresia with ventricular septal defect (n=3) or aorticopulmonary window (n=1) diagnosed by cardiac angiography and MR. Surgical confirmation was made in seven patients. Interruption of the proximal left pulmonary artery, diagnosed at the time of evaluation, was found in seven patients and acquired obstruction of the hilar pulmonary artery (PA) was found in two at cardiac angiography. In the remaining one patient with pulmonary atresia and an occluded palliative shunt, the central PA was not visualized at angiography. MR showed 3-6 mm-sized hilar PAs in five and a central PA in a patient with pulmonary atresia. In 4 of 6 (67%) surgically-proven patients with congenital or acquired left PA obstruction, the status of the PA distal to the obstruction was correctly diagnosed with MR. In conclusion, MR is an effective modality in depicting sizable PAs when routine angiography fails to visualize the PA anatomy.     

Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot

Congenital defects in human chromosome 22q11 deletion syndromes are associated with the 3rd and 4th pharyngeal pouch during fetal development. In the cardiovascular system, these disorders are usually apparent as conotruncal heart defects and aortic arch anomalies. UFD1L, a gene that is downregulated in dHAND-deficient mice, expressed in the mouse embryo at the branchial arch and mapped to human chromosome 22q11, has recently been strongly suspected to be responsible for the phenotypes expressed in 22q11 deletion syndromes. Its putative causal role in relevant congenital cardiovascular malformations was studied by gene dosage analysis, mutation screening and sequence analyses. Sixty cases of tetralogy of Fallot with no detectable chromosome deletion at 22q11 or 10p13 were examined, including 51 cases of simple tetralogy of Fallot, and 9 cases of tetralogy of Fallot with pulmonary atresia. None of these patients revealed deletion limited to a portion of the UFD1L gene. Although mobility shift was found by heteroduplex analysis in 24 cases at exon 4 and flanking sequences, further sequence analysis demonstrated only two silent nucleotide variations and a single nucleotide polymorphism in intron 4. Our data suggest that, although the UFD1L gene is mapped to 22q11 and is expressed during early murine development at both cardiac and cranial neural crests, it is not responsible for the majority of tetralogy of Fallot cases in humans.     

Vertebral hypersegmentation in a case of the VATER association

Associations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal “dysplasia” sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37-week gestation liveborn male with oligohydramnios deformations, tetralogy of Fallot, “H-type” tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a “cloacal-like” abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.     

Vertebral hypersegmentation in a case of the VATER association.

Associations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal "dysplasia" sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37-week gestation liveborn male with oligohydramnios deformations, tetralogy of Fallot, "H-type" tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a "cloacal-like" abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.     

Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association

Tracheal agenesis is a rare malformation of the lower respiratory tract. Investigation of a patient with multiple congenital anomalies and tracheal agenesis prompted a review of the literature which uncovered 42 previously published cases, most of whom had other defects. The presence in our patient of a tracheal abnormality in association with radial hypoplasia, single umbilical artery, tetralogy of Fallot, and left hydroureter initially suggested presence of the VACTERL association. However, numerical classification of malformation patterns in the reported patients with tracheal agenesis and in a series of patients with tracheoesophageal fistula and other components of the VACTERL association suggests that tracheal agenesis does not occur in the VACTERL association and may be part of another pattern of malformations which includes laryngeal atresia, complex congenital heart anomalies, radial ray defects, and duodenal atresia.     

Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary value syndrome

We describe a female infant born at 33 weeks gestation diagnosed postnatally with a previously unreported phenotype consisting of Type III tracheal agenesis plus tetralogy of Fallot with absent pulmonary valve. She was delivered to a mother who had the same congenital heart malformation, but no detectable tracheal abnormality. We discuss possible etiologies of these malformations. © 1996 Wiley-Liss, Inc.     

Parental consanguinity and congenital heart malformations in a developing country

The association between isolated congenital heart defects and consanguinity was examined in 759 Lebanese patients with different types of congenital heart malformations. The subjects were patients of the Children's Cardiac Registry Center (CCRC) at the American University of Beirut Medical Center. The proportion of first-cousin marriages among cardiac subjects was compared to that of the National Collaborative Perinatal Neonatal Network (NCPNN), after adjusting for the subjects' geographic distribution, and to the highest proportion reported by NCPNN. In general, the proportion of overall parental consanguinity and first-cousin matings among CCRC subjects (34.7 and 20.2%, respectively) were significantly higher than the highest proportion of first-cousin marriages reported by NCPNN (Bekaa subjects; 13.2%) (P < 0.0001). Comparison with the NCPNN-adjusted first-cousin mating proportion revealed a significantly increased rate of consanguinity in all categories of cardiac malformations except great vessel and coronary artery lesions (P < 0.05). The following lesions were significantly associated with increased parental consanguinity: aortic anomalies (aortic insufficiency, aortic stenosis, bicuspid aortic valve), atrial septal defect, double-outlet right ventricle, pulmonary atresia, patent ductus arteriosus, pulmonic stenosis, tetralogy of Fallot, and ventricular septal defect (P < 0.05). Higher maternal education was the only variable that was negatively correlated with parental consanguinity (P = 0.037). Our study emphasizes the role of homozygous recessive genes in the causation of different types of isolated congenital heart malformations, known to follow a multifactorial pattern of inheritance. There is an urgent need for educating the public on the deleterious effects of inbreeding, especially in developing countries with high overall consanguinity rates and limited financial resources.     

先天血管环畸形的解剖变异及外科治疗

目的 总结先天血管环畸形的解剖变异及外科治疗经验.方法 回顾性分析2009年3月-2012年2月收治的21例先天血管环畸形患儿的临床资料.21例中男10例,女11例;年龄4个月～3岁,平均1.1岁.患儿术前均行心脏超声、64排CT检查,其中双主动脉弓8例、右位主动脉弓伴左侧韧带6例、右位主动脉弓伴迷走左锁骨下动脉2例、肺动脉吊带4例、左位主动脉弓伴右侧动脉导管1例,合并法洛四联症4例、室间隔缺损2例、单心房1例、完全性肺静脉异位引流1例、肺静脉狭窄1例.21例均在全麻下行畸形矫治术,其中低温体外循环下手术矫治12例,非体外循环手术9例（7例采用左后外侧切口,2例采用左腋下切口）.结果 所有患儿均顺利完成手术.其中体外循环下手术的患儿,体外循环34～83 min,中位数47 min;主动脉阻断19～50 min,中位数26 min.1例患儿术后出现呼吸功能不全,再次插管呼吸机辅助呼吸.所有患儿均康复出院,于出院后1、3、6、12个月复查,此后每年复查1次.21例患儿平均随访3.6年.随访期间患儿呼吸道症状消失或明显缓解,生长发育正常.术后1个月复查胸部CT气管重建示：气管狭窄较前明显改善.结论 根据先天血管环的解剖变异及是否合并心内畸形选择相应的外科治疗方案,可取得较好的治疗效果.