Prenatal ultrasound diagnosis of neuroblastoma

With the progress of foetal ultrasonography, diagnosis of foetal tumors can be made before birth. We report five cases of prenatally detected neuroblastoma of the adrenal glands. Diagnosis was made during the third trimester in all cases. At birth no clinical sign related to the tumor was present, and urinary catecholamines were within normal ranges. On ultrasound scans the tumor was cystic in 1 case, solid in 2 cases and of mixed echogenicity in 2 cases. All children were operated on without pre or postoperative chemotherapy. In each setting the tumor was a stage I neuroblastoma according to the Evans classification. All children are alive and disease-free with a follow-up of 32 months at 14 years.     

Prenatal diagnosis of congenital neuroblastoma. Analysis of 4 cases and review of the literature

OBJECTIVE: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. METHODS: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas. RESULTS: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy. CONCLUSIONS: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre.     

Prenatal ultrasound diagnosis of adrenal neuroblastoma

Neuroblastoma is the most frequent solid malignant tumor in the neonatal period; however, its diagnosis is very difficult in the prenatal one. This kind of tumor has a high morbidity and mortality rate due to the metastatic risk. Its prognosis depends on the affected area, on the extension of the tumor, and on the associated abnormalities. The antenatal ultrasound diagnosis is possible by finding a mixed mass in the adrenal gland. We report a case of a bilateral adrenal neuroblastoma diagnosed by antenatal ultrasonography at the 29th week of gestation. We describe the principal findings and show the contribution of the tridimensional ultrasound on the relationship of the tumor with the nearby structures.     

Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.

A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.     

Prenatal diagnosis of congenital toxoplasmosis

Ninety-three pregnant women with Toxoplasma gondii seroconversion during pregnancy underwent prenatal diagnosis of fetal toxoplasmosis. The following tests were used: (1). amniocentesis for mouse inoculation (93 subjects), (2). amplification of T. gondii DNA by polymerase chain reaction (PCR) (79 subjects), and (3). cordocentesis for the detection of T. gondii-specific IgM antibodies (13 subjects). All patients had serial ultrasonographic scans to detect those fetuses with abnormalities that could be associated with congenital toxoplasmosis. Eighteen pregnancies (19.4%) had evidence of vertical transmission. A total of 11/18 (61.1%) had positive amniotic mouse inoculation test, while 10/12 (83.3%) had positive PCR results. The combination of both tests allowed the prenatal diagnosis in 17/18 infected fetuses (94.4%). All patients who underwent cordocentesis for the detection of T. gondii-specific IgM antibodies had negative results. However, in two of the above cases fetal toxoplasmosis was detected by amniotic fluid studies. In five of the infected fetuses there were abnormal ultrasonographic findings. All pregnancies with evidence of vertical transmission were terminated, whereas the remaining pregnancies proceeded normally to term. The present data showed that amniotic fluid studies, preferably PCR amplification of T. gondii DNA, are the best diagnostic tools for the detection of vertical transmission in pregnancies with seroconversion during pregnancy.     

Prenatal diagnosis of retroperitoneal neuroblastoma. Case report

Neuroblastoma is the foremost malignant neoplasm of the fetus and neonate. It is a tumor of the sympathetic nervous system that originates from the neural crest which etiology is largely unknown. Due to its general variability in outcome, neuroblastoma has long been considered one of the most enigmatic of cancers. Although technological advances in ultrasonography have possible intrauterine detection, prenatal diagnosis is still a rare event. This kind of tumor has a high morbidity and mortality rate due to the metastatic risk. Early detection of the tumor is critical to improve outcome. We report a case of retroperitoneal neuroblastoma diagnosed at 32 week of gestation.     

Prenatal diagnosis of congenital cytomegalovirus infection

OBJECTIVE: To assess prospectively the diagnostic reliability and prognostic significance of prenatal diagnosis of cytomegalovirus (CMV) infection. METHODS: One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) or amniocentesis alone (n = 35). Serial ultrasonographic examinations were performed from time of referral until pregnancy end. All infected neonates were given long-term follow-up. Autopsy was performed in all cases of termination of pregnancy. RESULTS: Nearly 23% (26 of 114) of fetuses were infected and prenatal diagnosis was positive in 20 cases. Sensitivity of prenatal diagnosis was 77% and specificity 100%. In eight cases, parents requested termination of pregnancy on the basis of abnormal ultrasonographic findings and/or biologic abnormalities in fetal blood. In 12 cases, parents decided to proceed with the pregnancy. In this group, one intrauterine and one neonatal death were observed. In one case, prenatal diagnosis revealed an abnormal cerebral sonography and the infant had bilateral hearing loss at birth. In 15 cases (nine positive and six false-negative prenatal diagnoses), no apparent lesion was present at birth, nor did it develop during the follow-up period (mean 31 months). In 88 (77.2%) of 114 infants, no evidence of vertical transmission was found during the pre- or postnatal period. CONCLUSION: Prenatal diagnosis provides the optimal means for both diagnosing fetal infection (amniocentesis) and identifying fetuses at risk of severe sequelae (ultrasound examination, fetal blood sampling), thus allowing proper counseling.     

先天性心脏畸形的产前诊断及临床分析

目的探讨先天性心脏畸形的产前诊断及临床意义。方法本研究应用Yagel5个心脏横面和心脏长轴切面进行胎儿心脏扫描，并有效多普勒血流技术、彩色血流、M型超声等超声仪器各项功能技术，对2002至2004年982例先天心脏畸形高危患者进行胎儿心脏全方位检查，并对引产胎儿进行尸体解剖核对产前诊断的正确性，并进行胎儿染色体分析；对产前诊断未发现明显异常的胎儿进行临床随访，胎儿出生后进行新生儿或要儿心脏超声检查，判定产前诊断的正确性。结果（1）982例先天心脏畸形高危患者中，检查发现胎儿心脏结构异常为46例（4．7％）。其中应用单纯四腔心即能诊断的先天性胎儿心脏结构异常为32例，其余14例需同时结合其他心脏检测平面诊断。（2）41例引产胎儿中，32例进行尸体解剖，病理结果与产前超声检查符合率为93．8％（30／32），其中1例患者病理诊断为永存动脉干畸形，产前诊断为法洛四联症；另1例为右心室双流出道畸形，产前诊断为大动脉转位。（3）46例患者中，32例进行胎儿染色体检测，合并染色体异常8例（25．0％）。（4）5例为产前诊断右心系统略大胎儿，分娩后新生儿或要儿心脏超声检查，结果与产前基本相同，表现为单纯右心系统略大，但新生儿和要儿无任何临床症状。（5）936例产前诊断为正常胎儿心脏患者，新生儿或要儿心脏超声检查发现室间隔缺损1例，动脉导管未闭2例，房间隔缺损1例。结论（1）应用本研究方法，以先天心脏畸形高危患者为筛查对象，产前诊断先天性心脏畸形阳性率为4．7％，产前诊断与尸体解剖符合率为93．8％。（2）应用本研究方法可使高危人群产前诊断胎儿先天性心脏畸形的敏感性达92．0％，特异性达99．6％。（3）单纯左右心比例轻中度失调胎儿可能有较好的临床预后。     

Prenatal diagnostics of congenital heart disease--own results

OBJECTIVES: Congenital heart defects (CHD) are the most common congenital malformation. They are still often overlooked in fetuses during the routine obstetric scanning. DESIGN: The aim of our study was to present our results in detecting CHD in high risk pregnancies. MATERIAL AND METHODS: The echocardiograms of 135 fetuses and case history of neonates who had prenatal diagnosis of CHD were revied retrospectively. RESULTS: We diagnosed CHD in 135 fetuses. The most common CHD were: atrio-ventricular canal (32 fetuses-23,7%), hypoplastic left heart syndrome (17 fetuses--12.6%), ventricular septal defect (11 fetuses--8.2%), and aortic stenosis (10 fetuses--7.4%). There were 15 intrauterine deaths (11.1%) and 8 neonatal deaths. CONCLUSIONS: Prenatal echocardiography enables early detecting and adequate treatment of congenital heart defects.     

Prenatal diagnosis of Milroy's primary congenital lymphedema

Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.     

Prenatal sonographic diagnosis of congenital hiatal hernia

OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble. Congenital hiatal hernia was suspected mainly because of the dynamic position of the stomach during the examination, without mediastinal shift, and normal appearance of the diaphragm on parasagittal sections of the thorax. Postnatal management was planned with no urgency and surgery was successfully performed, confirming the diagnosis. CONCLUSION: This rare case illustrates the importance of prenatal diagnosis of congenital hiatal hernia for prenatal counseling and postnatal management. The ultrasound criterion for prenatal diagnosis is the presence of a herniated stomach in the posterior mediastinum, sometimes having a dynamic position during examination, with no mediastinal shift associated with normal diaphragm appearance on parasagittal sections of the thorax.     

Prenatal diagnosis of congenital lobar fluid overload

Prenatal congenital lobar fluid overload (CLFO), which was first described by Ramsay and Byron, is identical to postnatal congenital lobar overinflation. It is characterized by progressive lobar overexpansion that compresses the other adjacent lung lobes. The underlying cause can be an intrinsic cartilaginous abnormality or an extrinsic airway compression. It may be associated with cardiovascular anomalies in 12%–14% of cases and affects males more frequently than females. Most cases are diagnosed postnatally, but early antenatal diagnosis and sequential follow-up are attempted for early treatment, if clinically indicated. This article provided a thorough review of CLFO, including prenatal diagnosis and differential diagnoses, as well as comprehensive illustrations of the perinatal imaging findings of CLFO. Prenatal diagnosis of fetal lung lesions should include CLFO in the differential diagnosis and prompt investigation for associated anomalies.     

Prenatal sonographic features of congenital lobar emphysema

The prenatal sonographic features of congenital lobar emphysema (CLE) have not been well characterised. Five cases have been reported in the literature and on all these occasions either an echogenic (3) or a cystic (2) lung lesion was detected prenatally and the diagnosis was confirmed after the operation. This is the sixth case of CLE in the literature with prenatal sonographic features documented. The prenatal scans of a 23-year-old lady performed at 22 weeks of gestation revealed cystic lesions and increased echogenicity of the right fetal lung. There were no other anomalies and the karyotype was normal. The lesion decreased in size at 28 weeks and the baby was born by a normal vaginal delivery at 41 weeks. CT scan performed on day 6 confirmed cystic changes on the right lung with compression of the right lower lobe. A repeat CT scan performed at 4 months revealed extensive cystic changes in a hyper-inflated right lung and mediastinal shift to the left. At operation, abnormally inflated right upper and middle lobes were found suggesting a CLE. There were no subsequent complications after removal and histology confirmed CLE. The reported cases are reviewed and the prenatal sonographic features of CLE are discussed.     

Prenatal MRI evaluation of congenital diaphragmatic hernia

The objective of this paper is to evaluate the efficacy of various magnetic resonance imaging (MRI) sequences and the general usefulness of prenatal MRI in determining the position of the fetal liver and visualizing lung tissue in fetuses who have congenital diaphragmatic hernia (CDH). This was a retrospective review of prenatal MRI of fetuses with a confirmed diagnosis by surgery or autopsy of CDH. MRI was performed in a 1.5-Tesla magnet using fast gradient echo, half-Fourier single-shot turbo spin-echo (HASTE) and echo planar images. The presence of a chest mass, position of the stomach and liver and visualization of the lungs by MRI was noted in all fetuses. This was compared to ultrasound studies performed the same day and correlated with postnatal or autopsy studies. The fetuses were 18-36 weeks gestational age (mean 24.5 weeks). MRI diagnosed left CDH (33), right CDH (4), and bilateral CDH (1) and agreed with the postnatal diagnosis in all patients. Ultrasound (US) diagnosed left CDH (33), right CDH (2), and congenital cystic adenomatoid malformation (3). MRI changed the diagnosis in four patients. The fetal liver was easily demonstrated with MRI in all fetuses and was herniated into the chest in 25 of the 38. US diagnosed liver up in 21. Correlation with postnatal studies found MRI correctly diagnosed liver position in 37 out of 38 cases. US correctly diagnosed liver position in 32 out of 38. Both lungs could be visualized in all fetuses with MRI. MRI accurately and easily diagnoses CDH and can differentiate it from other chest masses. MRI was superior to US in demonstrating the position of the fetal liver above or below the diaphragm. MRI reliably visualized fetal lung tissue. These findings are important for counseling parents, selecting fetal surgical candidates, and estimating prognosis.     

Prenatal diagnosis of symptomatic congenital cytomegalovirus infection

OBJECTIVE: The aim of this study was to evaluate whether the amniotic viral load of mothers with primary cytomegalovirus infection correlate with fetal or neonatal outcomes. STUDY DESIGN: Sixty-eight of 138 pregnant women with primary infection defined by immunoglobulin G seroconversion or the presence of immunoglobulin M with low immunoglobulin G avidity accepted amniocentesis. Polymerase chain reaction and quantitative polymerase chain reaction were used to detect amniotic fluid cytomegalovirus. Cytomegalovirus infection in neonates was determined by means of urinary viral isolation during the first week after birth or the histologic examination of tissue from aborted fetuses. RESULTS: Cytomegalovirus infection was found in 16 fetuses and neonates (23%), 5 of whom had symptoms. Quantitative polymerase chain reaction showed that the presence of >/=10(3) genome equivalents predicted mother-child infection with 100% probability; >/=10(5) genome equivalents predicted the development of a symptomatic infection. CONCLUSION: Fewer than expected cytomegalovirus-infected fetuses are at risk for development of cytomegaloviral disease, and this fact may be useful in counseling pregnant women with primary cytomegalovirus infection.