产前超声诊断先天性膈膨升及漏误诊分析

目的:探讨超声诊断胎儿先天性膈膨升的声像图特征并对漏诊、误诊进行分析.方法:分析2014年1月—2018年12月产前超声诊断先天性膈膨升的10例胎儿病例资料及随访结果,总结其胸腔横切面、冠状面、矢状面的产前超声图像特征,观察双侧膈肌的矛盾运动,并与产前MRI、产后胸片、解剖结果对比分析.结果:10例胎儿膈膨升中右侧6例...     

Prenatal diagnosis of ectopic intrathoracic kidney in a fetus with a left diaphragmatic hernia

Intrathoracic renal ectopia as a result of a congenital diaphragmatic hernia (CDH) is a rare congenital anomaly. We present a case in which the prenatal diagnosis of an ectopic intrathoracic kidney was made on routine anatomical survey at 28 weeks' gestation. Color doppler sonography imaging revealed the renal artery coursing into the infant's thorax and was consistent with CDH, but fetal MRI suggested an intact diaphragm. However, neonatal evaluation confirmed the diagnosis of intrathoracic kidney with posterior CDH, which was repaired without complication. In contrast to diaphragmatic hernia with liver or bowel herniation, infants with intrathoracic ectopic kidneys generally do well.     

Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia.

OBJECTIVES: To determine whether or not the presence of pleural and/or pericardial effusion can be used prenatally as an ultrasonographic marker for the differential diagnosis between diaphragmatic eventration and diaphragmatic hernia. METHODS: We present two case reports of non-isolated diaphragmatic eventration associated with pleural and/or pericardial effusion. Additionally, we reviewed the literature for all cases of congenital diaphragmatic hernia (CDH) and diaphragmatic eventration that met the following criteria: (1) prenatal diagnosis of a diaphragmatic defect and (2) definitive diagnosis by autopsy or surgery. The frequencies of pleural effusion, pericardial effusion and hydrops were compared between the two conditions using Fisher's exact test. A subanalysis was conducted of cases with isolated diaphragmatic defects (i.e. diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies). RESULTS: A higher proportion of fetuses with diaphragmatic eventration had associated pleural and pericardial effusions compared with fetuses with diaphragmatic hernia (58% (7/12) vs. 3.7% (14/382), respectively, P < 0.001). This observation remained true when only cases of diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies were compared (29% (2/7) with eventration vs. 2.2% (4/178) with CDH, P < 0.02). CONCLUSIONS: The presence of pleural and/or pericardial effusion in patients with diaphragmatic defects should raise the possibility of a congenital diaphragmatic eventration. This information is clinically important for management and counseling because the prognosis and treatment for CDH and congenital diaphragmatic eventration are different. Published by John Wiley & Sons, Ltd.     

产前超声检查诊断胎儿先天性膈疝

目的 探讨产前超声检查诊断胎儿先天性膈疝中的应用价值。方法 回顾性分析52胎先天性膈疝胎儿的声像图表现,将产前超声诊断结果与出生后检查、手术或引产后病理结果相对照。结果 52胎先天性膈疝中产前超声诊断正确50胎,漏诊2胎。其中,左侧膈疝45胎(45/52,86.54%),右侧膈疝7胎(7/52,13.46%);合并其他结构异常22胎(22/52,42.31%),合并羊水过多34胎(34/52,65.38%)。结论 产前超声检查可较准确地诊断胎儿先天性膈疝,具有重要的临床应用价值。     

Sonographic appearance of intrathoracic kidney in a fetus with left diaphragmatic hernia

Although prenatal diagnosis of congenital diaphragmatic hernia is not a rare event, detection of intrathoracic kidney in association is extremely rare. We present the sonographic findings in such a case. The postnatal outcome after successful respiratory management and surgical repair was good. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011     

胎儿先天性膈疝产前超声筛查及妊娠结局分析

目的总结先天性膈疝（CDH）产前超声筛查结果及妊娠结局。 方法2014年1月至2017年12月大连市妇幼保健院产前超声诊断胎儿膈疝51例,总结膈疝胎儿超声声像图特点及相关妊娠结局。 结果产前超声筛查结果：51例疑诊胎儿中产前超声以胎儿腹围切面未发现胃泡为首发线索筛查出膈疝40例（78.4%,40/51）;以心脏移位、腹腔内胃泡位置和形态异常为首发线索筛查出膈疝9例（17.6%,9/51）;其中左侧43例（84.3%,43/51）,双侧5例（9.8%,5/51）,右侧1例（2.0%,1/51）;合并其他异常33例（64.7%,33/51）。超声诊断膈疝49例（96.1%,49/51）,误诊2例（3.9%,2/51,生后证实为膈膨升1例,肺囊腺瘤1例）。妊娠结局：51例超声检查后继续妊娠15例（29.4%,15/51）,肺头比（LHR）最小值为1.9,死亡6例（40.0%,6/15）,存活9例（60.0%,9/15）均接受手术治疗,愈后较好。 结论产前以胎儿腹围切面未发现胃泡、心脏移位、腹腔内胃泡位置及形态发生异常为线索诊断胎儿膈疝符合率较高;多学科会诊、产时干预和及时救治可提高先天性膈疝的生存率。     

新生儿期膈疝的超声表现及诊断价值

目的探讨新生儿期膈疝的超声声像图特点。 方法选择2000年1月至2017年12月首都医科大学附属北京儿童医院超声及手术病理检查确诊为新生儿期膈疝的患儿19例,平均出生（12.8±11.7）d,其中3例产前已诊断膈疝,11例表现为呼吸困难,3例表现为呕吐,2例表现为心动过速。总结19例新生儿超声声像图特点。 结果19例新生儿膈疝术前超声显示自左侧胸腔内疝入小肠4例,胃底2例,脾脏3例,1例疝入物为左侧肾上腺及左肾上极;右侧胸腔内疝入肠管3例,4例疝入物为部分肝脏右叶及胆囊,2例疝入物为右肾上腺及右肾。食道裂孔疝疝入物均为胃。后外侧疝表现为膈肌不连续,位于腹腔内或腹膜后的脏器通过不连续的膈肌进入胸腔水平。食道裂孔疝表现为胃体通过食管裂孔疝入胸腔。术前超声诊断后外侧疝16例,食道裂孔疝2例,1例膈疝与膈膨升不能鉴别。与术前相关影像及手术检查结果对照,术前超声诊断符合率为94.74%（18/19）。 结论新生儿期患儿胸壁软组织薄,超声检查可清晰实时多角度显示膈肌情况,诊断符合率不低于CT或磁共振成像,且无放射性损伤,是新生儿期膈疝患儿首选的影像学检查方法。     

Prenatal diagnosis of thoracic kidney in the 2nd trimester with delayed manifestation of associated diaphragmatic hernia

Ectopic kidney is a rare congenital malformation, caused by renal malpositioning during embryogenesis. We report a rare case of ectopic kidney located in the left hemithorax of a male fetus. The unique features in this case were early sonographic prenatal diagnosis of thoracic kidney at 22 weeks' gestation, which was confirmed by fetal MRI, and delayed sonographic manifestation of the associated congenital diaphragmatic hernia at 27 weeks.     

Paradoxical movement of abdominal contents: a real-time sonographic finding indicating a congenital diaphragmatic hernia.

OBJECTIVE: A congenital diaphragmatic hernia (CDH) is the most common intrathoracic extracardiac congenital anomaly, and it is associated with high mortality and other fetal abnormalities. Early diagnosis is essential for delivery planning and possible intervention. However, the in utero diagnosis of CDHs by sonography can be challenging. We report the utility of paradoxical movement of the intra-abdominal contents in identifying CDHs. METHODS: Two fetal cases were identified: 1 referred with a suspected CDH and the other with a mediastinal shift and a suspected congenital cystic adenomatoid malformation (CCAM). Real-time sonography was performed in both fetuses with attention on movement of the intra-abdominal contents during fetal breathing, particularly during inspiration. RESULTS: Real-time sonography in both fetuses showed paradoxical movement of the abdominal contents during fetal inspiration. In the case with the presumptive diagnosis of a CCAM, the paradoxical motion was essential in changing the diagnosis from a CCAM to a CDH. CONCLUSIONS: Paradoxical movement of the abdominal contents can be used in addition to the traditional sonographic signs in diagnosing CDHs.     

Thoracoscopic repair of a large neonatal congenital diaphragmatic hernia using Gerota's fascia

A large congenital diaphragmatic hernia needing patch repair has a high risk of recurrence. Thus, managing these large congenital diaphragmatic hernias under thoracoscopy has become a problem. Here, a large congenital diaphragmatic hernia that was repaired using Gerota's fascia under thoracoscopy is reported. In the present case, it was impossible to close the hernia directly under thoracoscopy because the hernia was too large. Gerota's fascia was raised up by the left kidney and used for the repair. The left colon adhering to Gerota's fascia was mobilized, and a large space was made under thoracoscopy. Gerota's fascia was fixed to the diaphragmatic defect. The patient's postoperative course was good, and there was no recurrence. This technique could be one option for repairing a large hernia under thoracoscopy.     

婴幼儿膈疝与膈膨升的临床和X线分析

目的探讨婴幼儿膈疝与膈膨升的诊断和鉴别诊断。方法回顾性分析本院1975～2006年临床确诊的31例婴幼儿膈疝及12例膈膨升临床影像资料。结果膈疝发病年龄较膈膨升早，临床症状重，预后差。预后与膈疝裂孔大小相关。两者影像学上有异同点。一些疑似肺部疾病的不典型膈疝病例，胃肠造影对于避免误诊有很重要的价值。结论检查小儿先天性膈疝与膈膨升可通过胸腹部平片及胃肠钡餐检查，确诊率可达90％，若结合CT、腹部B超、临床资料，确诊率可达98％。     

Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions.

OBJECTIVE: To evaluate prenatal diagnosis of congenital diaphragmatic hernia by ultrasound in well-defined European populations. DESIGN: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient being routinely performed. RESULTS: There were 187 cases with congenital diaphragmatic hernia, with an overall prenatal detection rate of 59% (110/187). There was considerable variation in prenatal detection rate between regions. There was a significant difference in the detection rate of isolated congenital diaphragmatic hernia (59/116, 51%) compared with congenital diaphragmatic hernia associated with multiple malformations, karyotype anomalies or syndromes (51/71, 72%) (P = 0.01). Termination of pregnancy was performed in 39 cases (21%) of which 14 cases were isolated congenital diaphragmatic hernia. Mean gestational age at discovery was 24.2 weeks (range, 11-38 weeks). CONCLUSIONS: The overall prenatal detection rate of congenital diaphragmatic hernia is high (59%) but varies significantly between European regions. The gestational age at discovery was greater than 24 weeks in half of the prenatally diagnosed cases.     

Congenital diaphragmatic hernia: Presentations and problems in the adult

Three cases of congenital diaphragmatic hernia in the adult are reported. Strangulation of the large bowel was the presenting feature in 1 case and pancreatitis in another. The abnormality was discovered as a coincidental finding in a third case. The incidence, presentations, and diagnosis of this uncommon condition are discussed.     

Congenital diaphragmatic hernia masquerading as pneumonia

Patients with congenital diaphragmatic hernia usually present in the immediate neonatal period with respiratory distress. However, presentation beyond the neonatal period has sporadically been reported. We report a case of a 4-year-old girl who presented with a 1 month history of chronic cough and low-grade fever, with no response to multiple antibiotics. Initially, both clinical and radiological findings suggested inflammatory chest disease. Fortunately, after performing ultrasound, suspicion was raised and she was later diagnosed to have left congenital diaphragmatic hernia of Bochdalek type. Although rare, this entity should form one of the differential diagnoses of unresolving pneumonia in children.     

Thoracoscopic repair for late-presenting congenital diaphragmatic hernia with thoracic kidney in a child

Congenital diaphragmatic hernia (CDH) with a hernia sac and thoracic kidney is a very rare congenital anomaly. Recently, the usefulness of endoscopic surgery for CDH has been reported. We herein report a patient who underwent thoracoscopic repair of CDH with a hernia sac and thoracic kidney. A 7-year-old boy was referred to our hospital due to a diagnosis of CDH without clinical symptoms. Computed tomography showed herniation of the intestine into the left thorax and left-sided thoracic kidney. The key points of operation are resection of the hernia sac and identification of the suturable diaphragm under the presence of the thoracic kidney. In the present case, after repositioning the kidney to the subdiaphragmatic area completely, the border of the diaphragmatic rim was clearly visualized. Good visibility allowed resection of the hernia sac without damaging the phrenic nerve and closure of the diaphragmatic defect.     

Evaluation of fetal pulmonary vasculature by power Doppler imaging in congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the feasibility of prenatal power Doppler imaging of pulmonary arteries in congenital diaphragmatic hernia and to study its potential to predict outcome. METHODS: A prospective observational study was conducted. Forty-two cases of congenital diaphragmatic hernia (32 left and 10 right) without associated anomalies were analyzed. Qualitative evaluation of pulmonary vasculature was based on power Doppler imaging performed at 26 to 38 weeks. The pulmonary arteries were studied in the lung contralateral to the hernia. Pulmonary Doppler angiography was considered satisfactory when 3 levels of bifurcation defining 3 distinct segments of the pulmonary arteries were imaged and was otherwise considered poor. We also recorded the gestational age at diagnosis, side of the hernia, abdominal circumference below the third percentile, amniotic fluid volume, lung/thoracic area ratio, left/right ventricle ratio, and, in left-sided hernias, stomach position, and we carried out a multivariate analysis to determine the contribution of each factor to predict neonatal mortality. RESULTS: More than 3 divisions of the fetal pulmonary arteries were imaged in 20 cases; 1 or 2 divisions or none were imaged in 22. Neonatal mortality was significantly greater when fewer than 3 divisions of the pulmonary arteries were imaged (18 [82%] of 22) than when 3 divisions could be identified on power Doppler imaging (5 [25%] of 20; P = .0005). However, the lung/thoracic area ratio was the only factor that remained significantly associated with mortality in the multivariate analysis. CONCLUSIONS: An altered pulmonary power Doppler image is associated with neonatal mortality, but estimation of the lung area remains the best predictor of neonatal outcome.     

8例先天性横膈疝的产前超声检查分析

目的 探讨胎儿先天性横隔疝的超声表现,方法 利用二维超声（2D）和彩色多普勒血流图（CDFI）,仔细观察分析胎儿各超声切面图像及分析胎儿脐动脉血流流速曲线参数。结果 胎儿胃泡移至胸腔可作为超声诊断膈疝的主要依据。同时常碰到一些特殊表现和伴有其他畸形情况。结论 超声可作为先天性横膈疝诊断的首选检查项目。     

产前超声诊断胎儿先天性膈疝

目的探讨超声诊断胎儿先天性膈疝的临床价值。方法回顾分析27例经引产或产后证实为先天性膈疝胎儿的产前超声资料。结果胎儿先天性膈疝27例,产前超声准确诊断24例,3例漏诊,合并其他畸形9例。结论超声在产前能较准确地诊断胎儿先天性膈疝,对优生、降低畸形儿的出生有重要的临床价值。     

Experience in the management of eighty-two newborns with congenital diaphragmatic hernia treated with high-frequency oscillatory ventilation and delayed surgery without the use of extracorporeal membrane oxygenation

The aim of this study is to analyze neonatal outcome of isolated congenital diaphragmatic hernia and to identify prenatal and postnatal prognosis-related factors. A retrospective single institution series from January 2000 to November 2005 of isolated congenital diaphragmatic hernia neonates was reviewed. Respiratory-care strategy was early high-frequency oscillatory ventilation, nitric oxide in pulmonary hypertension, and delayed surgery after respiratory and hemodynamic stabilization. Survival rate at 1 month was 65.9%. None of the prenatal factors were predictive of neonatal outcome, except an intra-abdominal stomach in left diaphragmatic hernia. Preoperative pulmonary hypertension was more severe in the nonsurvivor group and was predictive of length of ventilation in the survivors. During the first 48 hours of life, the best oxygenation index above 13 and the best PaCO2 above 45 were predictive of poor outcome. When treating isolated congenital diaphragmatic hernia with early high-frequency ventilation and delayed surgery but excluding extracorporeal membrane oxygenation, survival rates compare favorably with other reported series, and the respiratory morbidity is low.