Prenatal and perinatal aspects of a giant fetal cervicothoracal lymphangioma.

A massive cervicothoracal lymphangioma was diagnosed in a fetus at 25 weeks of gestation. On ultrasound study, the mass showed septated, cystic components and extended from the right submandibular region to the right anterolateral thoracic wall including the right axilla and right scapula. Close sonographic follow-up revealed an increase in the size of the lymphangioma without fetal hydrops. An interdisciplinary approach including a pediatric surgeon, neonatologist, perinatologist and anesthesiologist was chosen. Elective cesarean section under general anesthesia was planned at 37 + 0 weeks of gestation. Surgical correction of the lymphangioma was successfully performed on the 4th day of life. Possible differential diagnoses and the obstetrical management are presented.     

Prenatal diagnosis of a fetal chest wall cystic lymphangioma using ultrasonography and MRI: a case report with literature review

A case of fetal chest wall cystic lymphangioma diagnosed prenatally at 28 weeks' gestation is reported. Ultrasound examination showed a multilocular, large cystic mass (10 x 22 x 29 mm) on the left side of the fetus in the area of the lower chest and upper abdomen, without color flow imaging. Magnetic resonance imaging was used to evaluate the extent and the tissue characteristics of the lesion. Two months after birth the lymphangioma was surgically removed, following an infection and a rapid increase in size. The case is discussed, and a short review of the literature is reported.     

Prenatal ultrasonographic diagnosis of abdominal cystic lymphangioma: A case report

Abdominal lymphangioma is a rare tumor of the lymphatic vessels. A case of an abdominal cystic lymphangioma identified at 22 weeks of gestation is reported. Ultrasonographic monitoring showed a progressive increase of mass size during the gestation. Pregnancy was terminated at 38 weeks and the newborn was submitted to a laparotomy with resection of all cystic structures. At the present time the infant is three years old and is doing well.     

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.     

Solitary fibrous tumor of the retroperitoneum in pregnancy: case report

Solitary fibrous tumor (SFT) is a rare, usually benign tumor Most cases occur on the pleura, being less frequent at other serosal sites. We present a case of a large retroperitoneal tumor with no accompanying clinical symptoms, which was detected due to apparent abdominal asymmetry in a 24-year-old woman at 16 weeks of gestation. The MRI scan taken at 20 weeks demonstrated a retroperitoneal mass measuring 25 cm in length. The tumor was surgically removed at 24 weeks of gestation. The final diagnosis was established on the basis of the anatomopathological examination supplemented by immunohistochemical phenotyping.     

Prenatal diagnosis of Meckel syndrome: a case report.

OBJECTIVE: To demonstrate the major sonographic findings associated with Meckel syndrome and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. SUBJECTS: Two fetuses with prenatal diagnosis of Meckel syndrome were sonographically evaluated. RESULTS: Both fetuses were demonstrated to have evidence of renal cystic dysplasia, occipital cephalocele and postaxial polydactyly. One case was diagnosed at 16 weeks of gestation whereas the other was detected at 36 weeks. Of interest, the first case had only unilateral renal cystic dysplasia and contralateral renal agenesis and mild degree of oligohydramnios. The other related anomalies which were not detected prenatally included cerebellar hypoplasia in case 1 and micrognathia in case 2. CONCLUSION: The main sonographic findings included renal cystic dysplasia, occipital cephalocele and postaxial polydactyly.     

Sonographic features of trisomy 18 at midpregnancy

OBJECTIVE: To evaluate the sonographic characteristics of the fetuses with trisomy 18 at 16-22 weeks of gestation. METHODS: The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 16-22 weeks of gestation and subsequently proven to be trisomy 18. The results of ultrasound findings were retrospectively reviewed in 25 cases with chromosomes which were confirmed as trisomy 18. RESULTS: All cases had at least one abnormal sonographic finding. There was only one case that had no structural abnormality, but fetal growth restriction was documented. The common sonographic findings included fetal growth restriction, choroid plexus cysts, cardiac anomalies, clenched hand, omphalocele and cleft lip. Fetal growth restriction was the most common finding demonstrated in nearly half of all cases. Other less common findings were diaphragmatic hernia, abnormal head shape, polyhydramnios, single umbilical artery. CONCLUSION: Nearly all fetuses with trisomy 18 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 for further genetic testing.     

Benign cystic lymphangioma presenting as a pelvic mass

We report a case of a 48-year-old woman with a complaint of chronic pelvic pain with a pelvic mass not related with uterus or adnexes. Preoperative ultrasonography or contrast enhanced computed tomography did not give accurate information on the origin of tumor. At laparotomy a cystic, retroperitoneal mass was totally resected without rupture. Final histopathological examination revealed that cystic spaces with abundant lymphocytes suggesting lymphangioma. No recurrence was detected in the follow up 6 months after total resection. As a result cystic lymphangioma should be considered as a rare cause of pelvic mass in women.     

Recurrent retroperitoneal myxoid liposarcoma during pregnancy: a case report and literature review

Retroperitoneal liposarcoma in pregnancy is rare, and only a few cases of primary liposarcoma during pregnancy have been reported. To the best of our knowledge, there is no published report of retroperitoneal liposarcoma that was previously treated and recurred during pregnancy. Our patient was diagnosed with a pelvic mass on ultrasound at 12-weeks' gestation. The mass was found to be a retroperitonal, well-differentiated myxoid liposarcoma and was radically excised at the time of cesarean delivery at 36-weeks' gestation. However, the tumor recurred soon and progressed rapidly, and the patient eventually died of the disease. A thorough sonographic investigation and timing of surgery may be critical in terms of finding a surgically resectable lesion and leading to a more favorable prognosis.     

Pelvic retroperitoneal cyst during pregnancy

ObjectiveThe diagnosis and treatment of adnexal mass during pregnancy is a major challenge for obstetricians. A rare case is reported of retroperitoneal cystic lesion during pregnancy.Case ReportA 31-year-old woman was diagnosed with an adnexal cystic lesion at 8 weeks of gestation and underwent laparoscopic surgery at 14 weeks of gestation. During laparoscopic surgery, the bilateral ovaries and tubes were normal, but the lesion was located on the right-side retroperitoneal area. Aspiration and enucleation were performed successfully by laparoscopy. The pathology report revealed mucinous cystadenoma. The patient had a smooth pregnancy course and delivered a healthy baby at 39 weeks of gestation.ConclusionLaparoscopic surgery is a safe procedure in the management of pregnant women with suspicious adnexal cystic lesions.     

Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report

BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by low serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeks of gestation. Sonographic evaluation revealed a fetus with short and deformed bones and a hypoechogenic skull. Based on the sonographic findings and the obstetric history of the couple, hypophosphatasia was diagnosed. The parents opted for pregnancy termination. Feticide was accomplished uneventfully. Laboratory findings confirmed the diagnosis. CONCLUSION: This couple was prone to this metabolic disorder due to their consanguineous marriage and previous affected fetus. Early-first-trimester prenatal diagnosis by first-trimester chorionic villus sampling or second-trimester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.     

Atypical sonographic presentation of fetal unilateral inguinoscrotal hernia in a multiple gestation

Ultrasonographic demonstration of bowel peristalsis within the fetal scrotum has been described as a pathognomonic sign of inguinoscrotal bowel herniation. We present the sonographic features and neonatal outcome of a fetus with a scrotal mass seen at 34 weeks of gestation in a twin pregnancy. This mass was diagnosed postnatally as a non-reducible inguinoscrotal hernia, in which bowel peristalsis had not been observed by real-time ultrasound in utero.     

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter)

OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed. RESULTS: The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3-->qter) distal monosomy 17 (p13-->pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth. CONCLUSION: This case provides further evidence of a possible association between chromosomal aberrations in SCTs.     

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.     

Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.     

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.     

Prenatal diagnosis of abdominal cystic hygroma

We present a case of fetal abdominal cystic hygroma that presented at 19 weeks of gestation. Ultrasonographic evaluation of the fetus revealed soft tissue enlargement of the left leg and a retroperitoneal mass in the left pelvis and abdomen. This represents the first reported case of prenatal diagnosis of abdominal cystic hygroma.     

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.     

Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

OBJECTIVES: To present the prenatal diagnosis, sonographic findings and, molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera and to review the literature. CLINICAL SUBJECT AND METHODS: Amniocentesis was performed at 22 weeks' gestation because of sonographic diagnosis of ambiguous genitalia. Initial amniocentesis, repeat amniocentesis, and cordocentesis revealed a mixture of 46,XX cells and 46,XY cells. Polymorphic DNA marker analysis using the fetal and parental blood was applied to investigate the genetic origin of the chimera. A 3,625-g baby was delivered at 37 weeks' gestation with clitoromegaly, prominent labia majora, fusion of the labia, and an orifice of the urogenital sinus. A lymphangioma was noted over the right arm and was excised at age 3 days. Extraembryonic tissues and the infant's skin were cytogenetically and molecularly studied. RESULTS: Initial amniocentesis, repeat amniocentesis, and cordocentesis revealed the karyotype of 46,XX[12]/46,XY[9], 46,XX[15]/46,XY[12], and 46,XX[27]/46,XY[15], respectively. The cytogenetic results of the extraembryonic tissues and skin were consistent with prenatal diagnosis. Informative sex chromosome and pericentromeric autosome markers demonstrated double paternal and single maternal genetic contributions. CONCLUSIONS: Prenatal sonographic diagnosis of ambiguous genitalia should alert true hermaphroditism and prompt thorough genetic investigations. DNA marker analysis is helpful in delineation of true fetal chimerism as well as determination of its genetic origin in prenatally detected 46,XX/46,XY chromosome complement.