Prenatal diagnosis of fetal cerebellar lesions: a case report and review of the literature

The fetal cerebellar structure, size and consistency are looked at in every system survey. Among the acquired cerebellar events that might change the cerebellar consistency are haemorrhage, infections in utero and neoplasia. Additional fetal malformations, if present, assist in making the final diagnosis. We present a case of an isolated echogenic mass in one of the cerebellar hemispheres along with the differential diagnosis.     

Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects.

Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.     

Prenatal diagnosis of hepatic mesenchymal hamartoma

A case of hepatic mesenchymal hamartoma diagnosed prenatally with ultrasound and confirmed histologically post-delivery is presented. Although histologically benign, this lesion resulted in fetal demise secondary to congestive cardiac failure in the third trimester. The development of non-immune hydrops in association with a fetal hepatic mesenchymal hamartoma is a poor prognostic sign for perinatal survival.     

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.     

Antenatal diagnosis and treatment of hypothyroid fetal goiter in an euthyroid mother: a case report and review of literature

Fetal goiter is an extremely rare complication of pregnancy. Its incidence is 1 in 40?000 deliveries. Antithyroid maternal therapy is responsible for 10–15% of fetal congenital hypothyroidism and can be considered as the most frequent underlying cause for this condition. The frequency of fetal goiter that is associated with fetal hypothyroidism and normal maternal thyroid function, as in our case, is even less frequent. Fetal goiter is associated with increased rate of perinatal complications and long-term morbidity, due to peripartum complications including labor dystocia due to its mass effect, as well as neonatal airway obstruction that may lead to hypoxic-ischemic brain injury and death. We present, in this study, a case report of late antenatal fetal goiter in an euthyroid woman and a literature review of the diagnosis and treatment of these cases.     

Ultrasonographic measurement of prenatal fetal liver

A total of 290 measurements of the size of the fetal liver in utero were made from 19 through 42 weeks of gestation. The right hepatic lobe circumference and area, considered to be the liver size, increased linearly with the advance of gestation. A statistical analysis of these results showed a highly significant correlation between liver size and gestational age (0.87, 0.77: p less than 0.001). The liver size also closely correlated with such growth parameters as biparietal diameter, femur length, and abdominal circumference (0.86, 0.76; 0.85, 0.76; 0.85, 0.73; p less than 0.001). When the liver size of normally grown fetuses was compared with that of growth-retarded fetuses, the liver of the growth-retarded fetuses was found to be significantly smaller (p less than 0.01). We conclude from this study that the measurement of fetal liver size aids in assessing the intrauterine growth of the fetus.     

Ultrasonographic diagnosis of fetal congenital abnormalities

Retrospective analysis of ultrasonographic examinations in 81 women who delivered newborns with congenital malformations was performed. Totally 147 anatomical defects in 83 newborns were found. 85 of 147 abnormalities (57.8%) were detected prenatally, most commonly (79.6%) in the third-trimester. All cases of coverings defects, as well as, all cases of anencephaly were diagnosed with ultrasonography. Malformations of urinary tract in 94.4%, central nervous system in 82.9%, osteoarticular system in 30%, heart defects in 27.8% and face abnormalities in 21.4% were already sonographically visualized before birth.     

Prenatal drainage of fetal urinoma with polyhydramnios: a case report and literature review

The appearance of fetal urinoma is rare in prenatal care, especially when associated with polyhydramnions. Many previous reports have concluded that the visualization of a prenatal urinoma is probably a sign of underlying renal dysplasia or poor function. Thus, the management of the reported cases, conservative treatment or uniroma drainage, has not been unified. In this paper, we present two cases of prenatally detected urinoma with prenatal drainage to improve the prognosis.     

First trimester diagnosis of sirenomelia: a case report and review of the literature

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.     

Diagnostic difficulty of abdominal wall endometrioma: clinical case and literature review

Abdominal wall endometrioma is a rare clinical condition with which the general surgeon is faced and usually presents a diagnostic challenge due to the similar signs and symptoms that this illness shares with other tumors of the abdominal wall. A clinical case which exemplifies this diagnostic challenge is presented, and a review is made about the physiopathology, diagnosis and treatment of abdominal wall endometriomas, emphasizing on the different diagnoses with which it can be confused.     

Congenital Letterer-Siwe disease with intrauterine fetal death: a case report and review of the literature

Letterer-Siwe disease is a rare proliferative disorder of the Langerhans cells, usually encountered inpatients under the age of 3 years. We present an unusual case of intrauterine fetal death at the 28th gestational week associated with generalized papular skin eruptions and systemic histiocytic infiltrates characteristic of Letterer-Siwe disease. Histopathologic features of Langerhans cells were further confirmed by immunocytochemistry and electron microscopy. The events occurring in pregnancy which may be worth mentioning are: (1) routine chest P-A view X-ray exposure of the mother 2 days before LMP, (2) the mother was exposed to certain Chinese herbs, in particular, the 101 hair growth solution (A Chinese herb mixture used for alopecia; contents unknown) from assisting her husband in topical applications, and (3) the mother has worked in front of computer monitors 8 hours a day for 10 years.     

Prenatal diagnosis of complete trisomy 9: a case report and review of the literature

Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to establish the prenatal diagnosis. An additional clinical feature of this syndrome that has not been reported previously is an aortopulmonary communication. A review of the literature specifically dealing with prenatal sonographic findings with complete trisomy 9 is also presented.     

Cystosarcoma phyllodes of the breast: a rare diagnosis: case studies and review of literature

Cystosarcoma phyllodes (CP), otherwise known as phyllodes tumour (PT) of the breast, is a very rare but locally aggressive fibroepithelial tumour in its malignant form, and accounts for 0.3–1% of all breast neoplasias. Using 4 cases reports with different histological classifications as examples (benign—borderline—malignant), we describe the (differential) diagnosis and treatment options of this tumour entity and give an additional review of the available literature.     

Prenatal diagnosis of a fetal abdominal cyst

Hepatic liver cysts are rare and few cases have been described in the literature. Initially, these cysts are detected by a prenatal ultrasound as abdominal, and consequently, the final diagnosis of hepatic cysts is done during the postnatal period. We present a case of a giant hepatic cyst found incidently during a routine ultrasound examination. The diagnosis and management of a fetal intraabdominal cyst is discussed.