Prenatal diagnosis of a benign facial tumor.

We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh which made us call it 'Ramses' sign' as a future mnemonic aid to sonographers.     

Prenatal sonographic diagnosis of thanatophoric dwarfism.

A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally.     

Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound

Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. Despite its frequent association with severe malformations, diagnosis in the few published cases is usually made at III trimester. In this case, three-dimensional ultrasound scan was performed in a Chinese primigravida with no remarkable personal nor familiar history since mandible was difficulty visualized with two-dimensional sonography at 21 weeks of gestation. Multiplanar and rendering mode showed the typical cervicofacial features of otocephaly without associated malformations. After parental counselling, they opted for termination of pregnancy and necropsy confirmed our prenatal findings. Our case shows the usefulness of three-dimensional ultrasound in assessing fetal cervicofacial pathology. Volumetric capture allows a delayed study of fetal anatomy and multiplanar mode offers the reconstruction of views whose achivement is difficult with conventional 2D ultrasound. Surface rendering provides excellent spatial vision and enables parents to understand the severity of the malformation thus helping with their decisions.     

Giant fetal hepatic hemangioma. Case report and literature review

The purpose of this case report is to demonstrate the importance of prenatal imaging for treatment management of fetal giant hepatic hemangiomas. Prenatal ultrasound revealed an abdominal mass with several cystic areas and punctate calcifications in a fetus at 29 weeks' gestation. Doppler scans confirmed the highly vascular nature of the mass. In this case, ultrasound diagnosed the mass was of hepatic origin, while magnetic resonance imaging at 32 weeks' gestation was more equivocal with respect to the anatomy source of the lesion. Imminent hydrops caused by a rapidly enlarged liver tumor was sonographically demonstrated at 34 weeks' gestation. An elective C-section and immediate tumor resection was performed. At the age of 20 months the infant is thriving. This case supports the notion that the survival rates for giant hepatic hemangiomas improve when fetal hydrops is averted and specific pre- and postnatal treatment is applied based on correct prenatal imaging diagnostics.     

Ultrasound diagnosis of interstitial pregnancy.

A case of interstitial pregnancy is reported. The diagnosis was made by ultrasound examination in an asymptomatic patient at risk for ectopic pregnancy following cornual anastomosis. Characteristic sonographic signs are discussed, with a review of the literature.     

Umbilical endometriosis in pregnancy: a case report.

To our knowledge, this is the first case reported in the literature of umbilical endometriosis in a pregnant woman. We report a case of umbilical endometriosis in a pregnant woman at 16 weeks of gestation. The patient revealed a reddish-brown polypoid nodule within the umbilical depression, with the typical history of monthly bleeding from the umbilicus. A nodule biopsy, testing of serum levels of CA-125 and a transabdominal ultrasound examination were performed. The diagnosis of endometriosis was confirmed by pathological examination. Serum levels of CA-125 were slightly increased and the pelvic ultrasound examination did not identify ovarian cysts of a possible endometriotic nature. The patient was also examined at 24 weeks' gestation, after delivery and in the late postpartum period. No therapy was given and the lesion resolved spontaneously 2 months after the biopsy was taken.     

Prenatal diagnosis of isolated anorectal atresia with colonic perforation.

We report here a case of prenatal diagnosis of isolated anorectal atresia with intrauterine colonic perforation at 34 weeks of gestation, characterized by the presence of a bilobed cystic pelvic mass with a V-shape appearance separated from the bladder with changing features during observation. Mild ascites was also visualized. Other structures were normal on detailed ultrasound. The patient had spontaneously delivered a male infant weighing 2,100 g at 34 weeks of gestation. The infant died one day after birth, before surgical correction secondary to respiratory distress syndrome. Autopsy revealed isolated anorectal atresia, and high (supraelevator) lesions. In conclusion, the findings of bilobed cystic pelvic mass with a V-shape were useful to diagnose anorectal atresia in this case. Prenatal ultrasound can facilitate early diagnosis and treatment.     

Prenatal ultrasound detection of a congenital epulis in a triple X female fetus: a case report.

A case of congenital epulis in a triple X infant, whose intra-oral mass was first detected on a 33-week prenatal ultrasound, is described. Two previous ultrasound studies performed at 21 and 28 weeks' gestation showed normal facial anatomy, suggesting accelerated tumour growth during the third trimester. Genetic amniocentesis also showed the infant to possess a 47, XXX karyotype.     

Angular pregnancy. Clinical management

A case of angular pregnancy was diagnosed by ultrasound examination after curettage of abortion hemorrhage. The rarity and clinical management of this condition are discussed, as well as the importance of ultrasound investigation for early diagnosis.     

Uterine gas vs. vessel calcification. A case report

BACKGROUND: Pelvic ultrasound plays a significant role in the diagnosis of uterine abnormalities; however, occasionally the radiologic findings may be misleading. CASE: A case of suspected uterine vessel calcification was detected on ultrasound in a patient hospitalized with pelvic inflammatory disease that was originally interpreted as uterine gas. The lack of change over serial ultrasound scans in conjunction with the patient's benign clinical course led to reassessment of the initial impression; the findings were then attributed to uterine vessel calcification. CONCLUSION: Uterine vessel calcification in a polysubstance abuser may be a manifestation of the known atherosclerotic cardiovascular complications of cocaine. Although ultrasound findings may be misleading, clinical judgment is essential to rule out clostridial endomyometritis.     

A rare case of non-immune hydrops fetalis: double-chambered right ventricle. A case report

A double-chambered right ventricle was diagnosed prenatally by ultrasound examination in a case of fetal hydrops and polyhydramnios. Delivery was induced at the 28th week. 2D echocardiography of the newborn confirmed the intrauterine diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed divided right ventricle, causing hydrops.     

Acute pericarditis in pregnancy. Report of a case

In this study the authors describe a case of acute pericarditis occurring at 26 weeks' gestation in a woman affected by Wolff-Parkinson-White Syndrome and with a history of Hodgkin's Lymphoma and autoimmune hypothyroidism. The patient was first admitted to the 4th Medical Pathology Unit of the University of Florence, where moderate pericardic effusion with no evidence of heart tamponade was documented by ultrasound scan. Subsequently the patient was cared for on outpatient basis at the Centre of Perinatal Medicine of the Department of Obstetrics and Gynaecology of the University of Florence. Since all examinations and tests aimed at defining the etiology of pericardial effusion were negative, an idiopathic acute pericarditis was diagnosed. The patient was given prednisone at a dose of 75 mg per day; owing to episodes of paroxystic atrial fibrillation, propaphenon was also administered intravenously to treat acute episodes and orally as prophylaxis. The patient underwent close control of both heart function (by means of ultrasound scans of the heart and dynamic EKG) and pregnancy (blood tests, ultrasound scans and Doppler velocimetry). At 36.5 weeks' gestation a healthy fetus was spontaneously delivered. Three months after delivery, the patient underwent an ultrasound scan that demonstrated the complete reabsorption of the effusion.     

Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report

Trisomy 18 is the second most common multisystem malformation syndrome. We present here a case of a fetus with trisomy 18, in which upper limb reduction was detected prenatally, as an isolated defect, at 17 weeks of gestation. The pregnancy was terminated by vaginal administration of misoprostol, and postmortem examination confirmed the ultrasound findings, including bilateral upper limb reduction with radial aplasia, absent first metacarpal and thumb and ventrally hyperflexed hands. This case demonstrates the need for thorough ultrasound evaluation of the fetal hands, as early as possible, because upper limb deformities can be the only abnormality of trisomy 18.     

Ultrasound diagnosis of immature cervical teratoma: a case report.

We report a case of cervical teratoma in a term female infant born to a 20-year-old white woman. There are rare tumors in neonates, occurring in approximately 1 in 20,000 to 1 in 40,000 live births. These tumors are accurately defined by ultrasound. Although benign, cervical teratomas cause respiratory compromise. In this case the tumor was removed surgically with no recurrence at the 10-month follow-up.     

Cystic degeneration of a leiomyoma masquerading as a postoperative abscess.

Leiomyomas are common tumors that usually have a typical sonographic appearance. With degeneration, however, the sonographic findings may be completely uncharacteristic. We report a case of a multicystic anterior uterine wall mass detected at antenatal sonography in an asymptomatic patient. Differential diagnosis included myoma, varicosity, hematoma, abscess, uterine anomaly, and pelvic neoplasm. At cesarean section, the mass was confirmed to be a myoma. Postoperatively, an ultrasound was performed by the radiology service during evaluation of suspected endometritis and the mass was interpreted as an endometrial abscess. This case illustrates that myomas can present with sonographic features consistent with a number of pathologic disorders. This variable pattern of echogenicity may sometimes create difficulty in establishing a correct diagnosis. The case also demonstrates the importance of communication between services and the need for not only antenatal but also postpartum and gynecologic ultrasound studies to be performed by physicians trained in sonographic findings of the abnormal uterus.     

Fetal hydronephrosis. Case report and literature review

Fetal hydronephrosis is the most common congenital anomaly detected by routine prenatal ultrasound. It is the abnormal dilatation of the urinary canal, and its most frequent causes are physiologic and transitory hydronephrosis, with spontaneous resolution. Pelvi-ureteric junction obstruction represents its first pathological cause. Renal function worsening is its major complication. During pre and post-natal periods ultrasound is the election diagnostic method for this entity. The two most accepted criteria to defining hydronephrosis are Society for Fetal Urology grade and anterior-posterior diameter of renal pelvis. Here we present a case of unilateral fetal hydronephrosis detected at 31" gestational week, its pre and postnatal ultrasound control, and obstetric and neonatal treatment. Prenatal opportune diagnosis and adequate postnatal treatment (medical or surgical) are very important to preserve renal function.     

Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.     

Congenital diaphragmatic hernia. Two cases with early prenatal diagnosis and increased nuchal translucency

The early ultrasound prenatal diagnosis of congenital diaphragmatic hernia is uncommon and suggests a poor outcome. We report 2 cases diagnosed at 10 and 12 weeks' gestation, with increased fetal nuchal translucency thickness (4 and 11 mm) and associated abnormalities (complex heart defect in one and many malformations in the other, including duodenal atresia and asplenia). In 1 case, the baby was delivered vaginally at 36 weeks, but neonatal death occurred; the pregnancy was terminated at 15 weeks in the second case.     

Foetal rhinopharyngeal teratoma: antenatal diagnosis and prognosis. Case report

Fetal teratomas are commonly found in the sacrococcygeal area. More rarely, these tumors may be found in cervicofacial forms. Rhinopharyngeal teratoma represent an extremely rare congenital tumor, often resulting in intracranial extension, obstruction of the respiratory or the digestive pathways and rapid asphyxia following birth. We report a case of rhinopharyngeal teratoma identified in a foetus at 18 weeks of gestation. The diagnosis was made by antenatal ultrasound and IRM. Tumor invaded the cavum and the right infratemporal region with no intracranial extension. The pregnancy was interrupted at 27 weeks of gestation. Authors discuss the difficulties to establish antenatal diagnosis by ultrasound, and those to decide what treatment to carry out.     

Deficiencia femoral focal proximal. Diagnóstico prenatal

Proximal femoral focal deficiency is a rare skeletal anomaly with an estimated incidence of 1:50.000 live between 50.000 and births. We report a case of proximal femoral focal deficiency diagnosed by ultrasound at 28 weeks gestation. Differential diagnosis, prognosis and management are discussed.