The specificity of ultrasound in the detection of fetal intracranial tumors

AIMS: To evaluate the specificity of ultrasound in identifying fetal brain neoplasms and its accuracy in the diagnosis of the tumor's histological type. METHODS: A retrospective evaluation of 7 cases of fetal brain tumors occurred at our unit in the period between January 92 and June 98 has been performed. All prenatal ultrasonographic diagnoses were compared with the postnatal findings on the aborted fetuses (post-mortem examination) or on the newborns (MRI or post-mortem examination). RESULTS: In 6 out of 7 cases the antenatal ultrasonographic diagnosis of brain tumor was confirmed postnatally, in one case a supratentorial arachnoid cyst was mistaken for a teratoma with cystic components (86% specificity in the diagnosis of congenital brain neoplasms). Out of the 6 cases of suspected teratomas, one revealed to be a glioblastoma, one an arachnoid cyst and one a primitive neuroectodermal tumor. The prenatal diagnosis was confirmed in the case of choroid plexus papilloma. Prenatal ultrasonography was accurate in identifying the tumor's histological type in the 57% of the cases. The diagnoses were not modified by the transvaginal scans performed in 2 cases. CONCLUSIONS: Prenatal ultrasonography is a useful tool to identify any intracranial space-occupying lesion larger than 10 mm. In the present study it has shown an 86% specificity in the diagnosis of brain neoplasms. However the accuracy of ultrasound in diagnosing the tumor's histological type was limited (57%).     

Outcome of sonographically suspected fetal ovarian cysts

Abstract

Objective: Fetal ovarian cysts (FOCs) are the most common intra-abdominal cystic structures formed during antenatal period. The aim of this study was to evaluate prenatal characteristics and postnatal outcome of sonographically suspected FOCs.

Methods: We reviewed prenatal sonographic data and postnatal medical records of 29 fetuses that were suspected to have ovarian cysts in our hospital, between January 2001 and September 2012. Perinatal outcomes were obtained for all cases.

Results: In a total of 29 cases, we confirmed initial antenatal diagnosis of ovarian cyst in 20 cases (68.9%) at postnatal period. Diagnosis of remaining nine cases revealed urogenital sinus anomaly in four cases, multicystic dysplastic kidney in two cases, mesenteric cyst in one case, intestinal duplication cyst in one case and lymphangioma in one case postnatally. In seven of the 20 ovarian cysts (35%), resolution of the cyst occurred prenatally. Intrauterine death of a fetus occurred at second trimester. In the postnatal period, most often cases (11/20) were spontaneously resolved and surgery was performed on two babies due to ovarian torsion (2/20).

Conclusion: Differential diagnosis of FOCs should always include genitourinary tract disorders, gastrointestinal tract disorders and other intra-abdominal cystic structures.     

Antenatally diagnosed congenital orbital teratoma in which rupture was associated with intrauterine fetal death

We report a case of a fetus with a congenital orbital teratoma (COT), in which rupture of the tumor was associated with an intrauterine fetal demise. An ultrasound scan at 27 weeks' revealed a solid and cystic, complex mass in the orbital region with extensive vascularization suggestive of an orbital cystic teratoma. Magnetic resonance imaging (MRI) supported this diagnosis and clarified tumor localization. At 32 weeks', the patient presented with fetal demise and rupture of the mass was noted. Fetal COTs, like sacrococcygeal teratomas, carry the risk of rupture. MRI in utero is useful for evaluating the extent of disease.     

First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion

Fetal cystic hygroma is a congenital malformation of the lymphatic system appearing as a single or multiloculated fluid-filled cavity, most often in the nuchal region. The malformation is believed to arise from failure of the lymphatic system to communicate with the venous nuchal system. Sometimes the lesion progresses to fetal hydrops, causing fetal death. To further delineate the cause and natural history of this disorder, we have prospectively studied eight cases of cystic hygroma of the neck, detected at gestational ages of 9 to 15 weeks by transvaginal sonography. Three of the eight fetuses survived (37.5%) and were normal at birth. Either hydrops fetalis or intrauterine fetal death occurred in the other five fetuses. In one of these five, therapeutic abortion was induced because of trisomy 21. In another fetus of these five, trisomy 18 was diagnosed by amniocentesis. This pregnancy ended in intrauterine fetal death. The ultrasonic evaluation of the cystic hygromas revealed that those that were reabsorbed in the three ultimately normal viable fetuses were nonseptated cysts, whereas all the four cystic hygromas ending in fetal death or associated with aneuploidy were septated, multilocular hygromas. In another fetus with nonseptated hygroma, nonimmune hydrops developed, which resulted in premature delivery and early neonatal death.     

Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.

INTRODUCTION: Pyruvate dehydrogenase deficiency is an inherited inborn error of metabolism associated with early neonatal death and long-term neurologic sequelae in survivors. Prenatal diagnosis currently relies on isolation of fetal cells for subsequent genetic and/or biochemical studies. Magnetic resonance imaging and magnetic resonance spectroscopy have been used on occasion for both postnatal diagnosis and management of pyruvate dehydrogenase deficiency. We illustrate a case in which these non-invasive modalities also prove useful for prenatal diagnosis of this condition. CASE: A 31-year-old multipara with a history of two prior infants affected with pyruvate dehydrogenase deficiency presented with a spontaneous dichorionic, diamniotic twin pregnancy. Magnetic resonance imaging and magnetic resonance spectroscopy were performed on both fetuses. Magnetic resonance imaging of the presenting (male) fetus demonstrated mild ventriculomegaly, increased extracerebrospinal fluid, and decreased cortical sulcation and gyration. The non-presenting (female) fetus was structurally normal. Magnetic resonance spectroscopy spectra were obtained for both fetuses, and were normal. The diagnosis of pyruvate dehydrogenase deficiency was made in the presenting fetus after delivery on the basis of subsequent mortality from severe lactic acidosis. CONCLUSION: Prenatal MR imaging of the fetal brain can be used for prenatal diagnosis in fetuses at risk for pyruvate dehydrogenase deficiency. Prenatal MR spectroscopy, although technically feasible, does not appear to have a role in the prenatal diagnosis of this condition.     

Fetal echocardiography in fetal ovarian cysts

OBJECTIVES: The aim of the study was to evaluate the outcome of fetuses with ovarian cysts in relation to fetal echocardiography. MATERIAL AND METHODS: In the Department for Diagnosis and Prophylaxis of Birth Defects at the Polish Mother's Memorial Hospital in Lodz fetal echocardiography was performed in 21 fetuses with ovarian cysts between the years 1995-2006. OUTCOMES: In 18 out of 21 (86%) fetuses we have found normal heart anatomy (NHA) and in 3 fetuses congenital heart defect (CHD). In 7 out of 18 (39%) fetuses with NHA there were functional anomalies, including 5 fetuses with hypertrophy Four neonates with hypertrophy required surgical procedures after the delivery. Prenatal hypertrophy was not observed in case of only one neonate which was operated after the delivery. CONCLUSIONS: 1. Fetal echocardiography studies were very often abnormal in fetus with ovarian cysts (mainly as functional anomalies). 2. Functional anomalies detected in fetal echocardiography more often resulted in surgical procedures after the birth, whereas normal heart study was more often connected with spontaneous regression of ovarian cyst (p=0.0265).     

9例多胎妊娠合并胎儿染色体异常患者的产前诊断和治疗

目的探讨多胎妊娠合并胎儿染色体异常的产前诊断方法及选择性减胎术定位方法。 方法选取2012年1月至2013年12月就诊于广州医科大学附属第三医院9例多胎妊娠合并胎儿染色体异常患者的临床资料,采用回顾性研究方法对其产前诊断方法、染色体异常情况、选择性减胎术的方法及妊娠结局进行分析。 结果9例患者中3例为三胎妊娠,6例为双胎妊娠。(1)产前诊断：①超声检查：9例患者早孕期行超声检查,均提示存在胎儿颈项透明层(nuchal translucency, NT)增厚,孕中期超声检查提示有6例患者存在胎儿结构异常,包括颈部囊肿、心脏异常、外生殖器畸形、足内翻、全身水肿等;②染色体检查：5例胎儿21-三体综合征,1例Turner综合征,1例染色体微缺失,1例染色体重复,1例双胎染色体异常。(2)治疗及妊娠结局：9例患者中7例患者行选择性减胎术治疗,1例流产,3例早产(新生儿均存在并发症),3例足月分娩(新生儿均未见异常);2例患者拒绝减胎,1例于孕中期自然流产,1例于孕35^＋周剖宫产分娩(1胎儿为21-三体综合征,另一胎儿为健康儿)。 结论多胎妊娠应注重早孕期染色体筛查,确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗。     

Sacrococcygeal teratoma. Prenatal diagnosis and prognosis

The routine use of ultrasonics during pregnancy allows an early diagnosis of a sacrococcygeal teratoma (SCT) with a high degree of certainty. The perinatal management is shown in a four case example prenatally diagnosed. The assessment of N-Acetylcholinesterase in the amniotic fluid in cases of cystic teratomas does not allow a safe differentiation from a myelomeningocele. A puncture of the tumor can be helpful for the verification of the diagnosis. Cells of all three germ layers may be found in the cytological fluid. The sonomorphological differentiation into solid and cystic tumors may play a significant role for the intrauterine growth. Even when diagnosed very early, cystic tumors do not compromise the intrauterine growth. Large solid tumors may lead to hydrops fetalis and intrauterine death. Furthermore, the prognosis depends on concomitant malformation as well as on the intracorporal spreading of the tumor. Therefore, a careful ultrasonic examination allows a good prenatal prognosis as to the severity of the malformation. Delivery is done by caesarean section in cases of large cystic-solid tumors. Small teratomas as well as most cystic tumors allow vaginal delivery after having been punctured previously.     

Tumores cardíacos fetales. Estudio retrospectivo

ObjectivesTo perform a retrospective study of cardiac tumors diagnosed in our department between 1995 and 2001Material and methodsWe reviewed the diagnosis, clinical course, and intrauterine management of fetal cardiac tumors, as well as fetal management and outcome, to determine the long-term prognosis of this entityResultsDuring the study period, cardiac tumors were diagnosed in 10 pregnant women. Echocardiography was performed in collaboration with the hospital's Department of Pediatric Cardiology, which continued monitoring the children after birth. Of the 10 fetal cardiac tumors diagnosed, rhabdomyomas were diagnosed in seven fetuses (several rhabdomyomas were found in five fetuses and only one tumor was found in two fetuses), pericardiac teratoma was diagnosed in one fetus and no diagnosis was made in the two remaining fetuses with solitary tumors. One fetus and one neonate died. In four of the patients with rhabdomyoma the tumors have shown partial or total regression and to date, tuberous sclerosis has been diagnosed in three children     

Fetal intra-abdominal cysts: accuracy and predictive value of prenatal ultrasound

Objective: The finding of a fetal intra-abdominal cyst is relatively common and it can be due to a wide variety of clinical conditions. The aims of this study were to determine the accuracy of the prenatal ultrasound (US) in identifying the etiology of fetal intra-abdominal cysts and to describe the neonatal outcomes.

Methods: All cases of fetal intra-abdominal cystic lesion referred to our center between 2004 and 2012 were reviewed. Cysts of urinary system origin were excluded. Prenatal and postnatal data were collected. Our cohort was divided into subgroups according to the prenatal suspected origin of the lesion (ovarian, mesenteric, gastro-intestinal and other locations). For each subgroup, sensitivity, specificity, positive predictive value, false-positive rate and accuracy of fetal US were calculated.

Results: In total 47 fetuses (10/37?M/F) were identified. The mean gestational age at the time of diagnosis was 33?±?4.9 weeks. Our cohort comprised of 25 ovarian cysts (10 simplex and 15 complex), 3 GI duplication, 6 mesenteric lesions, 4 meconium pseudocyst and 9 lesions of other origin. Surgery was performed in 38 cases (81%) at birth. The prenatally established diagnosis was exactly concordant with post-natal findings in 34 cases (72.3%). Sensitivity, specificity, positive predictive value and false-positive rate of US were 88.1%, 95.5%, 71% and 5.4%, respectively. Long-term outcome was good in almost 90% of the cases.

Conclusions: The etiology of fetal intra-abdominal cysts can be prenatally diagnosed in about 70% cases. Despite the high risk of surgery at birth, the long-term outcome was good in most of the cases.     

Nonvisualization of the fetal gallbladder by second-trimester ultrasound scan: strategy of clinical management based on four examples

OBJECTIVE: When the fetal gallbladder is not seen at ultrasound (US) scan, to propose a diagnostic method of differentiating fetuses who are healthy or have minor anomalies from fetuses with severe anomalies requiring intensive management. METHOD: We present four clinical cases illustrating this variability, together with additional examinations: karyotyping, screening for cystic fibrosis mutations, amniotic fluid digestive enzyme activities. RESULTS: The four examples we present-biliary duct atresia, biliary agenesis, gallbladder reveal at birth, and cystic fibrosis-illustrate the difficulties of making both diagnosis and prognosis prenatally when the gallbladder is not visualized. Laboratory assays allowed prenatal management. CONCLUSION: Failure to visualize the gallbladder prenatally may indicate fetal diseases of highly variable prognosis, but may also sometimes be followed by postnatal visualization in a child free of any disease. Prenatal management could help in defining diagnosis and prognosis.     

Significance of prenatal diagnosis in a patient with a huge neck tumor.

Due to the great advancements in fetal ultrasonography, the number of prenatal diagnoses are increasing, greatly contributing to improved neonatal surgery. It is now relatively easy to detect huge fetal cystic masses, and we have experienced three cases with a huge neck tumor detected in utero, one case with teratoma and two cases with cystic hygroma. Each case was complicated by neonatal asphyxia, and the neonate needed resuscitation by means of endotracheal intubation. The infant with teratoma unfortunately died of respiratory distress due to compression of the trachea before a perinatal team could be organized. Although the remaining cases with cystic hygroma were treated by a perinatal team, one died 19 hours after birth and the other has survived with the aid of endotracheal intubation in the hospital for three years. In addition, all four cases of cystic hygroma detected antenatally in our institute, which were not delivered, also had fetal hydrops which suggested a general lymphatic derangement. Cystic hygroma detected in utero is considered to be different from that detected after birth, since the former is associated with genetic lymphatic derangement. Prenatal diagnosis enables such patients to survive the perinatal period, but may not improve the prognosis of fetal cystic hygroma so much.     

Outcome of fetal cystic hygroma and experience of intrauterine treatment

OBJECTIVE: To review our cases of fetal cystic hygroma and to examine the prognostic factors with the goal of establishing criteria for the intrauterine treatment for cystic hygroma. PATIENTS AND METHODS: Thirty-one cases of fetal cystic hygroma were managed by us from January 1988 to December 1997, and 21 cases were available for analysis. Three prognostic factors, namely chromosomal abnormality, structural anomaly and hydrops fetalis, were evaluated. We treated 2 cases of cystic hygroma associated with hydrops fetalis in utero using OK-432 injection under ultrasound guidance. RESULTS: The fetuses without any of the prognostic factors listed above showed a good prognosis throughout the fetal and neonatal periods. However, in this group, 2 infants with large tumors died of hemorrhage from the tumor at 6 months and 3 years of age, respectively. Cases with hydrops fetalis without chromosomal abnormalities or structural anomalies (5 cases) resulted in either intrauterine fetal death (IUFD, 2 cases) or early perinatal neonatal death (early PND, 3 cases). The cause of early PND was circulatory failure. Most of the hydrops cases with either a chromosomal abnormality or structural anomaly resulted in IUFD before 22 weeks of gestation. The size of the cyst decreased in 1 of 2 cases treated in utero. CONCLUSIONS: The fetal cases of cystic hygroma showing hydrops fetalis without chromosomal abnormalities or structural anomalies are considered to be possible candidates for intrauterine therapy. Those with very large cystic hygroma without any of the three prognostic factors are also thought to be candidates for fetal treatment. Based on our clinical experience, sclerotherapy using OK-432 is considered to be a treatment option in selected cases with fetal cystic hygroma.     

Case of mature cystic teratoma of the greater omentum misdiagnosed as ovarian cyst

The teratoma of the greater omentum is a very rare entity. We present a case of mature cystic teratoma of the greater omentum misdiagnosed as ovarian cyst. The patient was a 36-year-old woman with an omental teratoma of 5 x 4 x 4 cm and an atrophic left ovary. The histopathologic diagnosis was mature cystic teratoma of the greater omentum and no evidence of immaturity or malignancy was noted. Preoperative tumor marker tests revealed moderate elevation of cancer antigen (CA)125, CA19-9 and carcinoembryonic antigen. The left ovary of the patient was atrophic and possible autoamputation of the ovarian tissue might be suggested.     

Successful in utero treatment of an oral teratoma via operative fetoscopy: case report and review of the literature

The prenatal diagnosis of a nasopharyngeal teratoma carries a very grave prognosis. Although these tumors constitute only 9% of all teratomas, all previous cases diagnosed antenatally have been associated with either fetal demise or emergent surgery at birth. Of the fetuses that survive to birth, delivery can be associated with airway obstruction and multiple postnatal surgeries. These complications could be averted if the tumor could be safely treated in utero. We hereby report the successful treatment of an oral teratoma via operative fetoscopy, with the birth of a healthy infant at term.     

Prenatal diagnosis of fetal cytomegalovirus infection.

Twelve fetuses were evaluated with a combination of ultrasonography, amniocentesis, and blood sampling for possible cytomegalovirus infection. In seven the mother had a documented primary cytomegalovirus infection. All seven women had normal ultrasonographic findings and one fetus was found to be infected. In the other five cases fetal cytomegalovirus infection was diagnosed in association with abnormal ultrasonographic findings. There was no history of maternal infection in the latter group. All positive and negative diagnoses were confirmed and none of the six infected fetuses survived. In this series, the most reliable parameters of infection were the isolation of the virus from amniotic fluid and elevations of total immunoglobulin M and gamma-glutamyl transpeptidase in fetal blood. In the majority of infected fetuses cytomegalovirus-specific immunoglobulin M was not detected in blood. Prenatal diagnosis of fetal cytomegalovirus infection is possible with a combination of amniocentesis and fetal blood sampling.     

Fetal urinary tract obstructions: prenatal diagnosis--prenatal and postnatal therapy.

A retrospective study was conducted comprising 78 cases of fetal urinary tract obstructions diagnosed by ultrasound. Thirteen of the obstructions were subvesical and 65 supravesical. In only one fetus with a subvesical obstruction leading to megacystis was a puncture of the fetal bladder performed--in the 17th week of gestation--resulting in restitution of the bladder to its normal size. In all of the remaining fetuses the kidneys, lungs, and bladder changes had already reached an advanced stage by the time the ultrasound diagnosis was made. In the 65 fetuses with supravesical urinary tract obstructions in utero puncture to relieve a rapidly developing hydronephrosis only seemed advisable in two cases. All of the prenatal diagnoses were confirmed postpartum with the exception of two Potter IIa kidneys, which had been interpreted as being hydronephrosis. The time and method of postnatal management are described. The results of the study indicate that in utero intervention is only indicated in the very rare case. Nearly all of the supravesical obstructions remained unchanged, some even for months. In these cases there was no evidence of cystic-dysplastic renal changes after delivery.     

Unusual presentations of fetal teratoma

Teratomas are the most common congenital neoplasm. Fetal intracranial teratomas generally are large solid/cystic tumors that often completely replace normal brain tissue. Mediastinal teratomas are uncommon and rarely result in nonimmune hydrops fetalis. We describe two unusual presentations of fetal teratoma. The first is a fetus with massive hydrocephalus and marked facial deformities that were caused by a small intracranial teratoma. The second is a fetus with a mediastinal teratoma associated with non-immune hydrops fetalis. In both cases, compression by the mass resulted in lethal sequelae.     

Prenatal evaluation for fetal surgery

The selection of fetuses that may benefit with in utero surgery is being developed. Noninvasive and invasive prenatal diagnosis techniques are utilized to try and gain as much knowledge about the fetus so that the appropriate counseling of parents can be undertaken. The most common invasive techniques are amniocentesis and chorionic villus sampling for fetal karyotyping and genetic diagnosis. Noninvasive techniques include ultrasound (2D and 3D), fetal echocardiography and magnetic resonance imaging. Additional techniques such as specific Doppler evaluation of vascular components, new techniques to look at fetal electrocardiograms and the use of computer tomography are also considered. The most common conditions for which in utero fetal surgery is also being considered are twin to twin transfusion syndrome, myelomeningocele, sacrococcygeal teratoma, cystic adenomatoid malformation of the lung with fetal hydrops and other monochorionic twin abnormalities (severe discordant birth defects or twin reversal arterial perfusion sequences). Ongoing evaluation of the sensitivity, specificity, positive and negative predicted values of these evaluation tools is required so that appropriate selection of fetuses for the surgery can be made.     

A clinico-pathologic study of ovarian neoplasm

A series of 96 patients who were diagnosed with 120 ovarian neoplasms at surgery have been reviewed. Nine types of benign ovarian cysts were encountered. Benign cystic teratoma with an incidence of 30% was the commonest tumor. The majority of these were in the 20-30 year age range. The mean age of the patients with mucinous cyst adenoma and benign cystic teratoma was significantly less (P less than 0.05) than those with serous cyst adenoma. The incidence of ovarian malignancies of 8.3% was low, and none of the malignancies was bilateral. There was a high incidence of 8.3% of malignant change in benign cystic teratomas. Abdominal pain and swelling were the symptoms most frequently experienced in patients with benign ovarian neoplasms.