Diagnostic and therapeutic dilemma with large prenatally detected cystic adrenal masses.

OBJECTIVES: The prenatal finding of a large cystic adrenal mass raises the dilemma of the differential diagnosis between adrenal hemorrhage and cystic neuroblastoma. The possibility of a neuroblastoma usually leads to surgical excision of such tumors. Nevertheless, an adrenal hemorrhage has to be recognized, so that unnecessary surgery may be avoided. METHODS: Three cases of large prenatally detected adrenal masses managed nonoperatively are reported. Data studied were: age at the diagnosis, prenatal and postnatal ultrasonographic consistency, and tumor marker levels. Size and sonographic evolution were also studied. RESULTS: In all 3 cases, a cystic mass, measuring more than 40 mm in size, was detected during the 3rd trimester of pregnancy. The sonographic appearance evolved from a sonolucent tumor to a heterogeneous mass with hyperechoic areas. The tumor marker levels were normal. All infants had a documented decrease in mass size at birth and were managed nonoperatively. All these tumors were considered adrenal hemorrhages. CONCLUSIONS: Prenatal ultrasonography rarely permits to distinguish an adrenal hemorrhage from a cystic neuroblastoma. The differential diagnosis, even in large masses, is based on close postnatal follow-up with serial sonography. Surgery is not mandatory, unless the size does not decrease. However, without pathologic proof, it is not possible to differentiate an adrenal hemorrhage from a spontaneously resolved neuroblastoma.     

Subamniotic hematoma: 3D and color Doppler imaging in the differential diagnosis of placental masses and fetal outcome

The aim of this study was to evaluate the role of 3D and color Doppler (CD) imaging in prenatal diagnosis and management of placental subamniotic hematoma and to speculate about the prenatal diagnosis of the solid and cystic placental masses protruding from the fetal surface of the placenta. Five pregnancies in which a large mass was seen protruding from the fetal surface of the placenta were studied in the period between January 2006 and January 2008. 3D and color flow imaging were settled in order to monitor the sonographic features of the mass during pregnancy, to evaluate the continuity of the solid portion of the mass with the fetal placental surface and to detect the blood flow signals within the mass. This study reports the clinical outcome and the histologic findings of five cases of subamniotic hematomas detected in the course of prenatal ultrasound examinations between January 2006 and January 2008. Sonographic features of the mass protruding from the chorionic plate show a consistence typical of a solid mass, in the recent subamniotic hematoma, or a predominantly cystic mass in the chronic subamniotic hematoma. Neither adverse clinical correlations nor structural nor chromosomal fetal abnormalities were found after delivery. The joint and the continuity of the solid portion of the mass with the fetal placental surface were correctly identified by prenatal ultrasound 3D examination. The CD imaging was conclusive in order to detect the absence of blood flow within the solid part of these masses. In conclusion prenatal sonographic features in recent subamniotic hematomas include the detection of a complex structure overlying the fetal plate of the placenta next to the cord insertion, covered by a thin membrane (the amnion), containing a predominantly solid mass arising from the chorionic plate. Differential diagnosis has to be done between recent subamniotic hematoma and placental chorioangioma by the use of color flow imaging: it displays blood flow within the mass in the case of chorioangioma, and conversely demonstrates the lack of color flow signals in the hematoma. The 3D imaging is conclusive in order to identify the continuity of the solid mass with the fetal placental surface. The chronic subamniotic hematomas are predominantly cystic structures in which there is a solid component attached to the fetal surface of placenta, representing a retracted clot and/or a fibrin deposit, underlying the hematoma. The main differential diagnosis in the case of a cystic mass overlying the fetal plate of the placenta, covered by a thin membrane, during the ultrasound examination, is between a placental cyst and a large pseudocysts of the umbilical cord at the placental insertion. In the case of a pseudocyst, the transonic formation is clear and lacks of a solid mass within. The correct differential diagnosis between subamniotic hematoma and the pseudocysts of the umbilical cord is required because of the association between chromosomal anomalies and pseudocysts.     

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.     

Prenatal manifestation of a congenital glioblastoma - Case report

In prenatal ultrasound screening, internal hydrocephalus and intracranial bleeding of the fetus are considered as primary diagnostic signs for a congenital brain tumor. We report the prenatal sonographic diagnosis of a congenital glioblastoma due to acute fetal internal hydrocephalus in the 37th week of gestation. After birth, the tumor's hyperechoic appearance on ultrasound was indistinguishable from intracranial bleeding. Diagnosis of a congenital glioblastoma (WHO stage IV) was confirmed by subtotal tumorectomy in the 9th week of life. In the international literature, only 6 cases of prenatally diagnosed glioblastomas have so far been reported, all of which associated with sonographically diagnosed fetal hydrocephalus. Further sonographic signs for a brain tumor are the tumor mass itself, a polyhydramnion, enlarged biparietal diameters and head circumferences, as well as suspected intracranial bleeding.     

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 diagnosis of a congenital mesoblastic nephroma. A case report

Fetal urinary tract malformations are diagnosed frequently with ultrasonography. There are many published papers on in utero detection of fetal cystic abnormalities. In this case the prenatal diagnosis of a solid kidney mass was made, and histopathologic examination after surgical resection revealed congenital mesoblastic nephroma.     

Comparison of magnetic resonance imaging and ultrasonography in the prenatal diagnosis of congenital thoracic abnormalities

OBJECTIVES: To evaluate prenatal MRI in the diagnosis of fetal thoracic abnormalities and to determine whether MRI provides useful information in addition to that of ultrasonography (US). METHODS: Ultrafast MR scanning was performed in 7 pregnant women in whom US was suspicious of fetal congenital anomalies of the thorax [3 cases of congenital diaphragmatic hernia (CDH), 3 cases of chylothorax and 1 case of congenital cystic adenomatoid malformation (CCAM) type III]. The presence, position, size and characteristics of the congenital lesions were determined and compared with postnatal diagnoses. RESULTS: The MRI diagnoses were 3 cases of CDH, 2 of chylothorax and one each of esophageal atresia and CCAM type III. The results of MRI were in agreement with those of US in 6 cases and in disagreement in 1 case of esophageal atresia. Final diagnoses were confirmed at surgery or autopsy in all fetuses. Combined use of MR and US imaging enabled a correct diagnosis in 5 cases and led to an error in the diagnosis of 1 fetus with bronchial stenosis, which had been diagnosed as CCAM type III by US and MRI. MRI led to a correct diagnosis in 1 fetus with esophageal atresia, in whom US had been equivocal in the prenatal diagnosis. CONCLUSION: MRI helped further characterize the fetal thoracic lesions and confirmed or changed the prenatal diagnosis based on US. MRI seems to be powerful in the prenatal diagnosis of thoracic lesions that are atypical or complicated by multiple abnormalities.     

Malformación adenomatoidea quística de pulmón: diagnóstico prenatal

Congenital cystic adenomatoid malformation of the lung (CCAM) is a congenital lesion amenable to prenatal ultrasound diagnosis. The initial finding is a solid or cystic intrathoracic mass. Ultrasound allows not only prenatal diagnosis but also detection of possible complications, that may affect managementTwo cases of CCAM are presented, with different clinical course in both the prenatal and postnatal periods. In both cases, long term outcome was favorable. The main characteristics of this malformations, its prenatal management and the different treatment option are reviewed     

Prenatal diagnosis and management of congenital cystic adenomatoid malformation of the lung

OBJECTIVE: Our purpose was to review the management and outcome of pregnancies with a prenatal diagnosis of fetal congenital cystic adenomatoid malformation of the lung (CCAM). STUDY DESIGN: A retrospective review was performed of all cases since 1995 with a prenatal diagnosis of fetal CCAM from the sole tertiary perinatal referral center in Western Australia. RESULTS: Twenty-one pregnancies with CCAM were identified. The gestational age at diagnosis was <22 weeks in 86% of cases. Macrocysts were seen in 76% of cases during ultrasound examination. Seventeen pregnancies continued until term. Regression of the sonographic appearances was observed in 19% of cases. Fetal hydrops complicated two cases. One neonate died within 24 hours of delivery because of pulmonary hypoplasia. Twelve children have required pulmonary lobectomies. No adverse sequelae are evident in surviving children. CONCLUSION: Most cases of prenatally diagnosed CCAM have had a good outcome. This review has positively influenced the counseling of women with this diagnosis.     

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.     

Virus detection in the fetal tissue of a premature delivery with a congenital varicella syndrome. A case report

Cases of congenital varicella syndrome have been published, to date, a single case reports. Isolation attempts of Varicella-Zoster virus from fetal tissues have, thus far, been unsuccessful. This is a first report of detection of Varicella-Zoster virus in fetal tissue by means of DNA hybridization technique in a typical case of congenital varicella syndrome in a premature delivery of the 27th gestational week. The case is documented anamnestically, sonographically, pathologically and virologically. In women with primary varicella infection during pregnancy good sonographical controls are recommended. In cases with sonographically characteristical signs prenatal diagnosis with puncture of the umbilical vein cord and placentocentesis may be considered. The varicella DNA detection should be supplemented, however, by the polymerase chain reaction.     

Prenatal presentation of cervical congenital neuroblastoma

OBJECTIVE: To describe a cervical neuroblastoma revealed in the prenatal period. METHOD: We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses. RESULTS: Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma. CONCLUSION: Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses.     

Multidisciplinary examination for prenatal diagnosis of posterior cervical teratoma in early second trimester

ObjectiveCervical teratomas represent approximately 3% of all congenital teratomas, which occur in approximately 1 in 20,000–40,000 live births. In this report, we present a case of congenital posterior cervical teratoma diagnosed by a two-dimensional (2D) ultrasound in the early second trimester.Case ReportA 28-year-old woman, gravid 1, para 0, came to our prenatal clinic at 20 weeks of gestation for her first prenatal visit. Results of an ultrasound revealed a fetus with multiple cystic septal mass with internally calcified spots measuring approximately 3 cm over the left fetal neck. Because no other abnormality was noted at that time, magnetic resonance imaging (MRI) and amniocentesis were scheduled on the following day. At the same time, results of a 4D ultrasound revealed the mass size to be same as that measured by the 2D ultrasound; however, the location was defined on the left posterior neck and MRI showed there was no invasion to the intracranial area. The parents opted to continue the pregnancy. In the following prenatal cares, no polyhydramnios was found and the fetal body weight was within the normal growth curve. The baby was delivered by cesarean section at 38 weeks of gestation with Apgar scores of 8 (at 1 minute) and 9 (at 5 minutes). The baby was scheduled for surgical intervention 3 days after birth. Finally, results of a pathological analysis revealed the mass to be a benign cystic teratoma.ConclusionPrenatal diagnosis of cervical teratoma is very crucial, allowing early detection of masses that obstruct the airway. Therefore, a multidisciplinary examination and follow-up are recommended for early prenatal diagnosis.     

Prenatal diagnosis of a fetus with distal 10q trisomy.

Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1-->qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.     

Early sonographic diagnosis of fetal cystic hygroma colli.

Fetal cystic hygroma colli (FCHC) is a congenital malformation of the lymphatic system which develops as a result of failure of the communication between the jugular lymphatic canal and the internal jugular vein. The diagnosis is usually made by ultrasound in the second trimester of pregnancy by the demonstration of a multiseptate, thin-walled cystic mass appearing posterolaterally in position to the fetal head and neck region. In this report we present two cases of FCHC diagnosed by transabdominal ultrasound in the first trimester of pregnancy. In one case, chorionic villus sampling revealed a 45,X karyotype, the fetus became progressively hydropic and died at 15 1/2 weeks. In the other, the spontaneous resolution of a nonseptated FCHC in a fetus with normal karyotype was documented, resulting in the delivery of a healthy infant a term. Fetal karyotyping, a careful search for other anomalies that may affect fetal survival, and a close sonographic follow-up in cases of FCHC are advocated for an accurate diagnosis and genetic counselling.     

Spontaneous resolution of cystic hygroma in 47,XYY fetus

Introduction 47,XYY karyotype occurs in 1 out of 1,000 male births. Physical phenotype is normal, with tall stature by adolescence. Prenatal diagnosis of the 47,XYY syndrome is usually fortuitous. Some cases are being diagnosed when prenatal karyotyping is done for the detection of Down syndrome and other major aneuploidies. Some cases are diagnosed when prenatal ultrasonographic findings of fetal abnormalities are found. Herein, we report a case of 47,XYY after prenatal finding of fetal cystic hygroma with spontaneous resolution. Case report A 19-year-old primigravid woman presented for antenatal care at the 13th week of pregnancy. She used oral isotretinoin, being unaware of pregnancy, for a treatment of acne during the first 4 weeks of gestation. Ultrasonogram was performed due to first trimester screening and the history of isotretinoin exposure. The result revealed a single viable fetus compatible with a 13-week pregnancy and a posterior cervical cystic hygroma. No other structural anomalies were noted. An amniocentesis was performed for prenatal chromosome analysis and a 47,XYY karyotype was found. Repeated ultrasonogram at 23-week gestation showed that the cystic hygroma had spontaneously disappeared. She delivered a normal appearing male infant by spontaneous vaginal delivery at 40 weeks. The maternal and neonatal outcomes were uneventful. Conclusion Fetal cystic hygroma can be associated with abnormal karyotype, such as 47,XYY. Without hydrops fetalis, this may be ended with a normal outcome. Therefore, an antenatal karyotype determination should be offered to any woman whose fetus has cystic hygroma, even to those with spontaneous resolution.     

Prenatal sonographic features of Harlequin ichthyosis

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.     

Mirror syndrome resulting from metastatic congenital neuroblastoma.

Neuroblastoma is a tumor of the sympathetic ganglia and adrenal medulla that rarely metastasizes to the placenta. A 21-year-old gravida 3, para 1 at 28 weeks' gestation had an incidental finding of a 3.8-cm fetal renal mass on prenatal ultrasound. Within 1 week, the fetus developed hydrops and was delivered for nonreassuring fetal assessment. The mother developed mirror syndrome as manifested by hypertension, oliguria, and edema. The hydropic infant developed pulmonary hypertension, sepsis, and renal failure. On day of life 4, life support was discontinued. Pathological examination of the placenta revealed disseminated small round blue cells consistent with neuroblastoma. Metastasis of congenital neuroblastoma to the placenta is exceedingly rare, and cases discovered prenatally have resulted in significant maternal morbidity and 100% neonatal mortality.     

Natural history and outcome of prenatally diagnosed cystic hygroma

OBJECTIVE: To define the outcome in cases of cystic hygroma diagnosed from a routine obstetric population. METHOD: This was a retrospective study of 42 cases of fetal cystic hygroma detected at 11 to 23 weeks' gestation in a routine obstetric population of 25 352 pregnancies. Fetal cystic hygroma was categorized according to position, severity, presence of cardiac defects and Hydrops fetalis. RESULTS: There were 20 (47.6%) cases with aneuploidy (9 trisomies and 11 Turner's syndrome). Major congenital cardiac defects were identified in 12 (28.6%) cases. Regression of the hygroma was noted in 2/20 (10%) of the aneuploid pregnancies and 3/17 (17.6%) of the euploid pregnancies. The majority (90.0%) of the aneuploid fetuses were female. In contrast, 70.58% of the fetuses in the euploid group were male and all the surviving normal babies were also male (n = 3). CONCLUSION: The findings of this study would support invasive prenatal diagnosis for an ultrasound finding of fetal cystic hygroma. Even in euploid pregnancies with cystic hygroma, there is a high mortality with associated abnormalities. The data also suggest a guarded pregnancy prognosis for the finding of fetal cystic hygroma, and that it is improved with spontaneous resolution, especially in male fetuses of normal karyotype.     

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sonographic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.