A fetal lung lesion consisting of bronchogenic cyst, bronchopulmonary sequestration, and congenital cystic adenomatoid malformation: the missing link?

A fetus was found to have a large left thoracic cyst on routine prenatal ultrasound at 23 weeks of gestation. This lesion caused compression of the normal left lung tissue and contralateral mediastinal shift. At 23 weeks of gestation the cyst was percutaneously aspirated without subsequent reaccumulation of fluid. Serial ultrasounds showed decrease in the size of the cyst. The clinical diagnosis of congenital cystic adenomatoid malformation was made. At birth, the child had no respiratory distress, and a CT scan confirmed the finding of a fluid-filled cyst in the left chest. At the time of resection, a nonaerated extralobar bronchopulmonary sequestration (with a systemic arterial blood supply and separate pleural investment) was found. The dominant cyst had ciliated respiratory epithelium with cartilage, indicative of a bronchogenic cyst, and the remainder of the specimen had the histologic hallmarks of a congenital cystic adenomatoid malformation. The coexistence of three separate anomalies in one lesion suggests a common embryological link for these malformations.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

Diagnosis and differentiation of congenital diaphragmatic hernia from other noncardiac thoracic fetal masses

This retrospective study was designed to evaluate individual sonographic parameters that might help differentiate congenital diaphragmatic hernia (CDH) from other noncardiac thoracic masses such as cystic adenomatoid malformation of the lung (CAML) and congenital lobar emphysema (CLE) prenatally. Twenty-four cases of CDH, CAML, and CLE detected during prenatal ultrasound and documented postnatally (with surgical, autopsy, or radiological proof) were identified through extensive chart and record review. The hard copy gray-scale images were retrospectively reviewed for imaging characteristics that may differentiate the three entities. Additionally, the prospective diagnosis during prenatal ultrasound was also compared with the postnatal diagnosis. The most reliable indicators in our retrospective review included confident visualization of a diaphragmatic defect (92.3/100.0 PPV/NPV, p< or =0.002) and/or localization of the stomach within the chest as well as the presence of severe cardiac deviation (both 92.3/62.5 PPV/NPV, p< or =0.01). Other sonographic indicators (including the presence of cystic areas, side and size of the lesion and the presence of polyhydramnios) offered lower levels of sensitivity and specificity. Prospective diagnosis during real-time assessment was also integral, offering >80% sensitivity and specificity (p< or =0.001). Accurate prenatal diagnosis of CDH is difficult despite the relative frequency of this lesion. The classic triad of a thoracic mass accompanying a displaced heart, absence of a normally positioned fluid-filled stomach and polyhydramnios, although seen with CDH, may not adequately differentiate this entity from other noncardiac fetal thoracic masses. Realtime assessment remains integral to the appropriate diagnosis.     

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter)

OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed. RESULTS: The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3-->qter) distal monosomy 17 (p13-->pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth. CONCLUSION: This case provides further evidence of a possible association between chromosomal aberrations in SCTs.     

Fetal adrenal haemorrhage--two-dimensional and three-dimensional imaging

A case of prenatal adrenal haemorrhage first detected by 2-dimensional and 3-dimensional sonography at 27 weeks' gestation is reported. Ultrasound examination showed a large cystic mass (32 x 27 x 27 mm) in the right suprarenal region of the fetus. Two weeks later, the mass had slightly increased in size demonstrating hyperechoic areas within the cyst. Further serial ultrasound examinations revealed a progressive organisation of the cystic mass associated with a moderate reduction in size. The diagnosis of adrenal haemorrhage was confirmed by postnatal follow-up sonograms as the mass decreased in size from 28 x 21 x 21 mm on day 1 to 23 x 18 x 17 mm on day 42. Course and sonographic signs were typical for adrenal haemorrhage and the neonate was therefore managed without surgical exploration. The child is developing normally at 6 months of age.     

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.     

Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal.     

Prenatal diagnosis and management of mainstem bronchial atresia

The prenatal diagnosis, natural history and management of mainstem bronchial atresia have not been described previously. We report two cases of prenatally diagnosed proximal bronchial atresia. The first patient presented at 18 weeks with sonographic and MRI findings consistent with bronchial atresia with fetal hydrops. The mother developed the mirror syndrome and labor was induced. A non-viable fetus was delivered at 25 weeks. The second patient presented at 16 weeks gestation with evidence of an intrathoracic mass that was subsequently prenatally diagnosed as a right mainstem bronchial atresia. The right lung increased rapidly in size and was associated with the onset of fetal hydrops. At 24 weeks, fetal pneumonectomy was performed but the fetus expired intraoperatively due to cardiovascular collapse. Post-mortem findings in both cases confirmed the presence of an atretic mainstem bronchus with massive enlargement of the lung. Bronchial atresia involving the mainstem bronchus is associated with a poor prognosis.     

Computed tomography diagnosis of post-obstructive atelectasis by an endobronchial lipoma.

Endobronchial lipoma is a rare benign tumor in the bronchial tree. We report a case of endobronchial lipoma in a 73-year-old man with hemoptysis. Chest radiograph revealed atelectasis of the right upper lung. Bronchoscopy revealed a well-defined endobronchial lesion in the right upper lobe bronchus with near total occlusion, but a biopsy was not performed. An endobronchial tumor was identified on CT scan with demonstration of fat within the tumor. Endobronchial lipoma was diagnosed and a sleeve lobectomy of the right upper lobe bronchus was performed. The pathological diagnosis was submucosal lipoma. The patient's symptoms improved during follow-up of more than 1 year. CT scan can be used to diagnose endobronchial lipoma and can help in the development of a management plan.     

Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: Clinical evidence for counseling

A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected during a second trimester routine scan for fetal and maternal screening data. First findings were significant for a severe abdominal wall defect, limb and foot compromised positions. Fetal biometry was appropriate in biparietal diameter and head circumference measurements; the long upper bones were normal both for length and development. The patient was referred to a prenatal unit to complete the sonographic diagnosis. Two- and three-dimensional sonographic investigations were performed and techniques were complementary for fetal maldevelopment specification. Limb-body wall complex with lumbosacral spine torsion and lower limbs with severely abnormal features were identified. With 2D color Doppler, a heart defect was confirmed and the umbilical cord was missing from the amniotic cavity. An invasive procedure by amniocentesis was made to ascertain alpha-fetoprotein levels and fetal karyotype. Following parental counseling, pregnancy was terminated and feto-pathological examination confirmed the sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is reported herein; 2D and 3D scans of the fetus identified organ displacement due to a combination of very early events.     

Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: clinical evidence for counseling.

A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected during a second trimester routine scan for fetal and maternal screening data. First findings were significant for a severe abdominal wall defect, limb and foot compromised positions. Fetal biometry was appropriate in biparietal diameter and head circumference measurements; the long upper bones were normal both for length and development. The patient was referred to a prenatal unit to complete the sonographic diagnosis. Two- and three-dimensional sonographic investigations were performed and techniques were complementary for fetal maldevelopment specification. Limb-body wall complex with lumbosacral spine torsion and lower limbs with severely abnormal features were identified. With 2D color Doppler, a heart defect was confirmed and the umbilical cord was missing from the amniotic cavity. An invasive procedure by amniocentesis was made to ascertain alpha-fetoprotein levels and fetal karyotype. Following parental counseling, pregnancy was terminated and feto-pathological examination confirmed the sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is reported herein; 2D and 3D scans of the fetus identified organ displacement due to a combination of very early events.     

Antenatal presentation of isolated femoral hypoplasia discovered at 18 weeks of gestation

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in France. A case of congenital short femur in an otherwise healthy infant is described. Antenatal diagnosis was made at 18 weeks of gestation and ultrasonic follow-up was performed. The right femur was shorter than the left. Further sonographic exploration demonstrated unilateral femoral hypoplasia without another anomaly. In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up.     

胎儿Dandy-Walker综合征6例分析及文献复习

目的：探讨胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。方法：总结6例胎儿Dandy-Walker综合征病例,复习有关文献,讨论胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。结果：6例患者中有3例于妊娠中期超声检查发现胎儿Dandy-Walker综合征,经羊膜腔穿刺胎儿核型分析发现染色体异常后引产,另3例于妊娠晚期超声发现胎儿Dandy-Walker综合征,1例引产,2例分娩后CT检查未发现明显异常。结论：掌握胎儿Dandy-Walker综合征的超声影像学特征,早期识别,及时产前诊断,正确处理,对降低Dandy-Walker综合征胎儿出生率至关重要。     

First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association

Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.     

Laser ablation of foetal microcystic lung lesion: successful outcome and rationale for its use

OBJECTIVE: A foetus with an echodense, microcystic lung lesion complicated by non-immune hydrops has a high mortality rate. Because of the limited treatment options available, laser ablation was offered in an attempt to reduce the size of the lesion and reduce hydrops fetalis. METHODS AND RESULTS: A 25-year-old nulliparous woman presented at 21 weeks gestation. Ultrasound revealed a male foetus with a large microcystic right sided lung lesion that completely occupied the right hemithorax causing marked mediastinal deviation. The foetus was hydropic with polyhydramnios. Percutaneous laser ablation of the large microcystic lung lesion was performed under direct ultrasound control. At a power setting of 45 W, and using a 400 microm Nd:YAG laser fibre, the core of the lesion was photocoagulated in pulses lasting 5 s at 5 s intervals. The total target dose was 1683 J. This led to a marked but temporary reduction in amniotic fluid volume. The patient was commenced on sulindac and amniodrainage was performed at 27 weeks as reaccumulation of the polyhydramnios occurred. Pre-eclampsia complicated the pregnancy at 38 weeks gestation and an emergency caesarean section was performed. The baby underwent a thoracotomy and lobectomy at 48 h of age, made a good recovery, and is currently well 8 weeks post-delivery. CONCLUSIONS: In cases of cystic lung lesion complicated by hydrops, laser ablation should be considered as a treatment option.     

Perfusion scan in pulmonary tumor microembolism: report of a case.

A 76-year-old male patient was admitted to our hospital with the chief complaint of dyspnea. A chest CT scan showed pericardial effusion, mediastinal lymphadenopathy and a tumor in the right ventricle with invasion to the main trunk of the pulmonary artery. A 99mTc MAA perfusion lung scan revealed multiple small subsegmental peripheral defects and a "fissure sign", while the 133Xe ventilation scan was normal. After the chest CT scan and scans of both lungs, tumor microembolism was highly suspected. Open chest surgery was performed. A huge tumor in the right ventricle involving the main trunk of the pulmonary artery was found. In addition, multiple tumor thrombi in the pulmonary arteries and veins were also noted. The pathology was metastatic squamous cell carcinoma. Thereafter, the primary lesion was found by bronchoscopy. The final diagnosis was squamous cell carcinoma of the right lower lobe bronchus with metastases to the right ventricle and pulmonary vessels, and in association with pulmonary tumor microembolism. We present this uncommon case and describe the pulmonary perfusion pattern of the tumor microembolism.     

Sonographic features of anorectal atresia at 12 weeks

We present the sonographic features of a fetus with anal atresia at 12 weeks of gestation. Follow-up ultrasound examination at 17 week revealed apparently normal bowel. Spontaneous miscarriage occurred at 18 weeks and postmortem examination showed anorectal atresia and arthrogryposis multiplex. It seems that dilatation of the bowel in the early pregnancy is a possible marker for anorectal atresia, and the abnormality may be overlooked if a mid-trimester scan alone is performed.     

Successful intrauterine therapy for congenital cystic adenomatoid malformation of the lung. A case report

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare abnormality which is amenable to be diagnosed by prenatal ultrasonography. In general, CCAM associated with non-immune hydrops has a poor prognosis unless a fetal intervention is performed. In some series almost 100% of either prenatal or early neonatal deaths are observed without intervention. Recently the cystic adenomatoid malformation volume ratio (CVR) has been proposed as an index to predict the development of hydrops in this condition. If the CVR is >1.6, the risk of hydrops is approximately 75%. We report a case of CCAM (macrocystic type) of the left lung referred to our center at 21 weeks of gestation. Fetal therapy was considered owing to enlargement of the CCAM volume, severe mediastinal shift, right lung compression, polyhydramnios and ascites from 21 to 26 weeks. Thoracoamniotic shunting was performed successfully at 26 weeks with resolution of the cystic mass. At 37 weeks a male infant was born vaginally weighing 3,210 g with Apgar scores of 5 and 10. Resection of the mass was performed uneventfully on day 3. The infant is currently 22 months of age, asymptomatic and in good condition.     

Gastroschisis with fetal chromosomal abnormality: a case report

Gastroschisis is a rare anomaly and it is usually not associated with other syndromic or nonsyndromic anomalies. The first case of gastroschisis with aneuploidy (Turner syndrome) is presented. A fetal huge cystic hygroma was diagnosed by prenatal sonography at 12 weeks of pregnancy and chorionic villi sampling (CVS) was performed. Cytogenetic analysis revealed 45, X0. The pregnancy was terminated by induction of labor at 16 weeks of pregnancy. The female fetus had a big membrane of cystic hygroma surrounding the fetal neck. Additionally, a full abdominal thickness defect with multiple loops of bowel outside the abdomen, which could not be diagnosed on prenatal ultrasound scan, was detected on postnatal examination.