Normal outcome after prenatal diagnosis of thrombosis of the torcular Herophili

We report a case of prenatal diagnosis of thrombosis of the torcular Herophili. Detection at 22 weeks' gestation by ultrasound scan of an anechoic mass located immediately above the tentorium led to magnetic resonance imaging (MRI) being performed at 28 weeks which established the diagnosis of an isolated thrombosis of the torcular Herophili. MRI remained stable throughout pregnancy, and postnatal MRI confirmed the diagnosis at 2.5 months of age. The child is now 16 months old and developing normally.     

Prenatal MR imaging of dural sinus malformation: a case report

OBJECTIVE: To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS: Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were compared with postnatal MRI studies performed at 2 days and 1 month. RESULTS: US showed an anechoic, midline posterior fossa collection with irregular internal echodensities. Color Doppler showed prominent arterial vascularity at the lesion margins. The prenatal MRI showed a large, profoundly hypointense, midline retrocerebellar mass. Postnatal MRI, complemented with magnetic resonance (MR) angiography, showed the lesion to be a giant dural venous pouch fed by multiple mural arteriovenous shunts. Follow-up MRI at 1 month suggested latent venous hypertension and prompted endovascular treatment. CONCLUSION: Prenatal MR imaging is useful to establish the diagnosis, to assess complications such as hydrocephalus and tonsillar prolapse, and to help plan perinatal management, postnatal follow-up, and treatment decision-making.     

Prenatal diagnosis of a cystic type IV sacrococcygeal teratoma mimicking a cloacal anomaly: contribution of MR

OBJECTIVE: To report a case of pelvic midline cystic mass in a female fetus without visibility of the rectum and which is not a cloacal anomaly. METHODS: Ultrasound (US) and magnetic resonance imaging (MRI) were performed respectively at 27 and 27.5 weeks' gestation and the findings of these examinations were compared with post-mortem examination after termination of pregnancy (TOP). RESULTS: US showed a pelvic midline cystic mass in a female fetus with mild enlargement of the left ureter and renal pelvis. MRI did not show the T1 hypersignal of meconium in the rectum. The analysis of MR findings were suggestive of the diagnosis of a sacrococcygeal teratoma. Pregnancy was terminated because of the possibility of severe sphincterial disorders and the fetopathological examination confirmed this diagnosis. CONCLUSION: This observation illustrates the diagnostic problems generated by the detection of a pelvic midline cystic mass in a female fetus. The absence of visibility of the T1 hypersignal of the meconium in the rectum is traditionally supposed to be highly suggestive of a cloaca, but may also be explained by the emptiness of the rectum, compressed by the mass.     

Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report

OBJECTIVE: To report ultrasound and magnetic resonance imaging (MRI) findings in a fetus with intracranial hemorrhage and porencephaly, presumed secondary to intrauterine cytomegalovirus (CMV) infection. METHODS: A 20-year-old, G2, P1 woman presented at 28.6 weeks' gestation after ultrasound examination demonstrated apparently isolated fetal ascites. Evaluation included maternal serology, amniocentesis, and repeated ultrasound examinations. Fetal MRI evaluation was also performed. The infant was born at 35 weeks' gestational age. RESULTS: Maternal serology was positive for CMV IgG. Intrauterine CMV infection was confirmed using polymerase chain reaction (PCR). At 31.6 weeks' gestation, ultrasound demonstrated borderline lateral cerebral ventriculomegaly. MRI of the fetal brain on the same day demonstrated parenchymal hemorrhage in the right posterior temporal and parietal regions along with mild ventricular enlargement. Sonography one day before delivery revealed brain parenchymal cystic change consistent with porencephaly of the right posterior temporal and parietal region. Postnatal ultrasound, computed tomography (CT), and MRI confirmed the diagnosis of a porencephalic cyst communicating with the posterior body of the right lateral ventricle. Placental pathology was consistent with CMV infection. CONCLUSION: This case report illustrates that fetal MRI is a useful adjunct in the evaluation of intrauterine infection with CMV.     

Prenatal demonstration of afferent vessels and progressive thrombosis in a torcular malformation

OBJECTIVES: To elucidate a part of the prenatal natural history of dural sinus malformation of the posterior fossa. METHODS: Ultrasound and magnetic resonance imaging were performed from 31 to 32 weeks' gestation. RESULTS: We observed the progressive development of a thrombus that was visible as an expanding hyperechoic round area within a cystic mass of the posterior fossa. It was characterized, as expected for a vascular malformation, by the presence of blood flow into the aneurismal cavity. Color doppler identified superior sagittal and straight sinuses, and distinguished that their flow continued into the dilated torcular. Prenatal magnetic resonance imaging confirmed an arteriovenous malformation involving the dural sinus. CONCLUSION: The vascular malformation had a fixed volume and preceded the thrombosis, which formed within several days. The present case is the first report with all the prenatal sonographic features of this condition.     

Prenatal diagnosis of fetal intracranial hemorrhage at 25 weeks of gestation

OBJECTIVE: To determine whether magnetic resonance imaging (MRI) can give further information for the prenatal diagnosis of intracranial hemorrhage, when ultrasound (US) is not conclusive. METHODS: We report on a fetus in the 26th week of gestation with a grade-III hemorrhage in the right cerebral hemisphere, which was suspected on US examination and specified by MRI examination in a patient with pre-eclampsia. RESULTS: Doppler measurement of the umbilical artery, which showed the absence of end diastolic velocity, was indicative of placental insufficiency. The MRI specified the findings found by US examination and confirmed the poor outcome of the fetus. Labor was induced by prostaglandins in the 27th week of gestation. Postmortem examination showed a female fetus with a grade-III intracranial hemorrhage in the center of the right hemisphere with a diameter of 4 cm. A hemorrhage was also found in the subarachnoid space and in the occipital region of the left hemisphere. CONCLUSION: We suggest that fetuses at high risk of developing hypoxia should be sonographically evaluated and MRI should be considered when intracranial echogenicities are seen.     

Currarino triad: concurrent US and MRI diagnosis in the fetus and the mother

We report an unusual case of the complete Currarino triad diagnosed in a fetus at 21 weeks' gestation by means of prenatal ultrasonography (US). The highly suspicious findings in the fetus were accompanied by analogous US findings in the mother who suffered from mild symptoms of up to that time unrecognized Currarino triad. Consecutively, magnetic resonance imaging (MRI) confirmed the findings simultaneously in the fetus and in her mother. This is the first report describing the prenatal diagnosis of Currarino triad without the background of positive family history. To our knowledge, the prenatal MRI findings of Currarino triad have not yet been published.     

Prenatal diagnosis of type I sacrococcygeal teratoma and its management

PURPOSE: To report a case of type I sacrococcygeal teratoma (SCT) diagnosed prenatally and managed surgically successfully in the neonatal period. CASE REPORT: A gravida 2, para 1, woman at 32 week's gestation was referred for suspected fetal anomaly. On US a 14 x 12 cm mass with solid and cystic components was detected in the sacral region of the fetus. On MRI the tumor had no apparent intrapelvic or intraabdominal extent, indicating type I SCT. Cesarean section was performed at 34 weeks' gestation due to signs of deteriorating high output cardiac compromise in the fetus. In the neonatal period stabilization of the infant was achieved. At age ten days the mass was successfully excised surgically. CONCLUSION: Prenatal determination of SCT, follow-up with sonography, time, and mode of delivery are indicative factors for prognosis in SCT.     

An unusual case of diverticulitis complicating pregnancy at 33 weeks' gestation

A 38-year-old para 2 presented with the gradual onset of nausea vomiting and increasing left lower quadrant pain, at 33 weeks' gestation. She was known to have uterine leiomyomas, with ultrasonography depicting an 8-cm intramural fundal leiomyoma. In addition a left lateral nondiscrete 10 x 8-cm mass was depicted at the point of maximum tenderness. Magnetic resonance imaging (MRI) demonstrated diverticulosis of the descending and sigmoid colon. The patient remained afebrile and received repeated doses of intramuscular analgesics and was cleared by the surgical consultant, only to be readmitted with similar symptomatology 24 hours later. Subsequently, following repeat discharge she delivered at 34 weeks' gestation, and developed a small bowel obstruction during the immediate postpartum course. With the continued finding of a left lower abdominal mass and computed tomography findings suggestive of perforated sigmoid diverticulitis and resulting small bowel obstruction, laparotomy was performed. Multiple adhesions and phlegmon sequelae of chronic perforation of the sigmoid were confirmed, and a diverting descending colostomy and Hartman's procedure were performed. We present unusual MRI findings of diverticulitis in the third-trimester and review the literature pertaining to this unusual complication of pregnancy.     

Ultrasound versus MRI: is there a difference in measurements of the fetal lateral ventricles?

Objective: To evaluate whether fetal brain lateral ventricle measurements differ between ultrasound (US) and MRI.

Methods: We evaluated 115 fetuses with US and MRI performed within 24?h of each other. Ventricular measurements were performed in the axial plane at the level of the atria for both modalities and the right and left ventricles were evaluated separately. We compared mean measurements; mean differences, association with gestational age (GA), association with the presence of a brain anomaly, and agreement between MRI and US.

Results: The LV and RV were measured in 65 and 64 cases, respectively. LV and RV size estimates were significantly greater when measured by MRI compared with US (p?Conclusion: MRI measurements of ventricles are significantly larger than the measurements by US by ～1?mm. There is a good level of agreement when categorizing by normal, mild and severe ventriculomegaly.     

Perinatal imaging findings of inherited Sotos syndrome

OBJECTIVES: Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. CASE: This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. CONCLUSIONS: Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis.     

Second-trimester diagnosis of intracranial vascular anomalies in a fetus with subdural hemorrhage

OBJECTIVES: Risk factors for intracranial hemorrhage occurring in prenatal life are imperfectly known. A case of prenatal diagnosis of subdural hemorrhage associated with multiple intracranial vascular aneurysms is described. METHODS: Sonography and magnetic resonance imaging of the fetal head were obtained at 21 weeks' gestation and compared with pathologic findings. RESULTS: Sonography showed a large transonic mass displacing the normal intracranial structures. Magnetic resonance imaging demonstrated the hemorrhagic origin of the mass and showed multiple vascular anomalies. Postmortem examination confirmed the compression of the cerebral hemisphere by a blood collection, probably because of bleeding from one of the multiple vascular aneurysms into the subdural space. CONCLUSION: Magnetic resonance imaging with the use of single-shot ultrafast sequences may be useful not only in the differential diagnosis of fetal intracranial hemorrhage but also in identifying vascular risk factors.     

Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and neurological deterioration at 4 months and 10 months, respectively. The third child, sister of the first patient, was diagnosed prenatally at 11 weeks' gestation through chorionic villus sampling (CVS). Molecular analysis revealed that the fetus and child in Family 1 were homozygous for a common mutation, IVS10 -2A>C, which has not been reported in the Caucasian population. The patient in Family 2 was a compound heterozygote for IVS10 -2A>C and a novel mutation 749T>C (L238P). After genetic counseling, the couple decided to continue the second pregnancy. However, dilatation of quadrigeminal cistern (QC) and suspicious macrocephaly were noted at 30 weeks. Progressive dilatation of the QC associated with macrocephaly, fronto-temporal atrophy and wide space of perisylvian fissure were found in the follow-up scans. The affected girl was delivered at 37 weeks' gestation by cesarean section. Postnatal magnetic resonance imaging (MRI) studies confirmed the prenatal sonographic findings. With prenatal sonographic findings and mutational analysis presented in the present cases, the feasibility of prenatal diagnosis of GA I in high-risk pregnancy can not be overlooked.     

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.     

Trombosis de senos venosos cerebrales con afectación parcial de la tórcula de Herófilo en el sexto día de puerperio

Thrombosis of the cerebral venous sinuses is rare during pregnancy and the puerperium, even though pregnancy-specially in the last trimester and puerperium-together with prothrombotic states, head trauma and oral contraceptive use are risk factors for this common condition. Thrombosis of the cerebral venous sinuses occurs in 12 out of every 100,000 births. We report a case of venous thrombosis of the sigmoid and left transverse sinuses with partial involvement of torcular Herophili in a 25-year-old patient on the sixth day of the puerperium.     

Diffusion-weighted MR imaging and apparent diffusion coefficient of the normal fetal lung: preliminary experience

OBJECTIVE: To assess if a correlation is present between apparent diffusion coefficient (ADC) values and normal lung maturation during gestation to define potential reference values as indicators of the lung development. METHODS: Our study included 50 pregnant women (gestational age, GA: 18-36 weeks), with normal fetal development of lungs assessed by a previous obstetric ultrasound (US), and then confirmed by our magnetic resonance (MR) examination. We used T2-weighted sequences, diffusion-weighted imaging sequences (DWI) and ADC maps for studying pulmonary tissue. In all cases the resulting ADC values were related to GA using Pearson correlation. RESULTS: ADC values ranged from 1,2 microm(2)/ms at 18 weeks' gestation to 3,9 microm(2)/ms at 36 weeks' gestation with a mean value, regardless for the gestational age, of 2, 352 +/- 0,623106 microm(2)/ms. We found a significant correlation between ADC and gestational age (Pearson correlation = 0,816). CONCLUSION: The ADC values correlate with gestational age since alveolar fluid secretion and angiogenesis increase gradually. Therefore, ADC can be considered as a new parameter for studying lung maturity.     

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI

OBJECTIVES: To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. METHODS: We reviewed prenatal ultrasound and fetal MRI studies in two pregnancies at 25% recurrence risk for JS and correlated these findings with gross neuropathology in one affected fetus. RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. CONCLUSIONS: With longitudinal monitoring, it is possible to diagnose JS in at-risk pregnancies before 24 weeks' gestation. On the basis of our data and review of the literature, we propose a protocol for monitoring pregnancies at risk for JS, utilizing serial ultrasounds combined with fetal MRI at 20-22 weeks' gestation to maximize the accuracy of prenatal diagnosis.     

Giant hemangioma of the fetal neck, mimicking a teratoma

We present a case involving a giant hemangioma of the fetal neck, prenatal diagnosis of which was a teratoma. A 32-year-old pregnant woman was referred to our hospital at 31 weeks' gestation owing to a giant solid mass of the fetal neck and excessive amniotic fluid. The mass seemed to be occupying the neck almost entirely, extending to the nasopharyngeal cavity, the mandible, the surface of the left orbit and the left shoulder. Based on sonographic and magnetic resonance imaging (MRI) findings, diagnosis of a giant teratoma was made. Cesarean section was performed at 35.5 weeks' gestation, and a female infant weighing 2826 g was delivered. Purpurae were observed on the neck of the infant, and the tumor turned out to be a hemangioma. Postnatal MRI findings, in which the tumor's signal intensity differed from that of the prenatal findings, were quite compatible with the diagnosis of a typical hemangioma. Laser and corticosteroid treatment successfully decreased the volume of the mass. Although it may not always be possible to make a prenatal differential diagnosis between a hemangioma and a teratoma in the neck of the fetus, serial ultrasound and MRI examination are mandatory to evaluate the prognosis and to plan suitable treatment. Moreover, possible postnatal changes to the tumor characteristics have to be taken into consideration when evaluating the findings of prenatal diagnostic imaging.     

Pregnancy Complicated by the Antiphospholipid Syndrome

Summary: A patient with previously undiagnosed antiphospholipid syndrome (APS) developed atypical severe preeclampsia at 31 weeks' gestation. Other complications of pregnancy included intrauterine growth retardation, thrombocytopenia and fetal distress necessitating urgent delivery of a live infant. There was a prior history of unexplained jugular venous thrombosis. Prophylaxis against thrombosis was commenced immediately postoperatively and no postpartum complications occurred.
Recent evidence supports the use of antepartum prophylaxis with low dose heparin in patients with APS. The role of low dose aspirin, either alone or in combination with heparin, is yet to be determined. Human immunoglobulin may be useful in selected cases. Early diagnosis is a key factor in their management.     

A case of massive subchorionic thrombohematoma diagnosed by ultrasonography and magnetic resonance imaging

Massive subchorionic thrombohematoma is uncommon but associated with a poor perinatal prognosis. Placental enlargement was detected in a 25-year-old Japanese primipara woman with fetal growth retardation and oligohydramnios at 23 weeks' gestation. Ultrasonography (USG) showed an abnormal sonolucency within the placenta at 28 weeks' gestation, but could not give an unequivocal differentiation from placental abnormalities such as hematomas, cysts and other tumors. Magnetic resonance imaging (MRI) pointed to a large hematoma in the subchorionic region. Simultaneously, the amniotic fluid was brownish colored. From these findings, it was possible to have prenatal diagnosis of massive subchorionic thrombohematoma. At 32 weeks' gestation, the fetus died in utero and was stillborn 3 days later. Pathological findings for the placenta revealed a large hematoma diffused between the villous chorion and the chorionic plate, with wide necrosis of placental tissue, likely due to formation of multiple thrombi. The clinical and pathological findings were compatible with massive subchorionic thrombohematoma. MRI might be useful for the detection of massive subchorionic thrombohematoma and help its clinical management in combination with USG and pulse Doppler imaging.