Prenatal sonographic features of esophageal and ileal duplications at 18 weeks of gestation

We present a case of esophageal and ileal duplications at 18 weeks of gestation. Transabdominal ultrasonography of the fetus showed multiple cystic masses of 12 to 17 mm in diameter and continuity with each other in the abdomen and a unilocular cystic mass of 15 mm in diameter in the posterior mediastinum. The cystic mass filled the abdominal cavity with signs of intestinal obstruction. The thoracic cystic mass was tubular, sausage-shaped and behind the heart, which was displaced to the antero-lateral wall of the chest. Amniocentesis revealed a normal fetal karyotype 46,XY. Peristaltic movements in the abdominal cystic structure at 30 weeks of gestation suggested dilated intestinal loops. Follow-up ultrasound examinations showed polyhydramnios with amniotic fluid index of 30 cm and gradual enlargement of the cystic structures to 50 mm in the abdomen and 30 mm in the posterior mediastinum at 38 weeks of gestation. A male infant weighing 3900 g was delivered. Postnatal ultrasonographic examination and the findings of magnetic resonance imaging also suggested enteric duplication cysts. Prenatal diagnosis allowed prompt neonatal evaluation and surgical treatment of the esophageal and the ileal duplications, which was confirmed by pathological examination.     

Sonographic features of anorectal atresia at 12 weeks

We present the sonographic features of a fetus with anal atresia at 12 weeks of gestation. Follow-up ultrasound examination at 17 week revealed apparently normal bowel. Spontaneous miscarriage occurred at 18 weeks and postmortem examination showed anorectal atresia and arthrogryposis multiplex. It seems that dilatation of the bowel in the early pregnancy is a possible marker for anorectal atresia, and the abnormality may be overlooked if a mid-trimester scan alone is performed.     

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic disorder that affects the muscle tone in the intestinal and urinary tract systems. Prenatal diagnosis is difficult because an identifiable genetic locus is absent and there are no specific ultrasound findings. We present an interesting case of this syndrome diagnosed prenatally in one fetus of a twin pregnancy. A 26-year-old white woman gravida 4, para 2103, at 11 weeks' gestation was diagnosed with a dichorionic diamniotic twin pregnancy. The patient's history was significant for having a previous female infant diagnosed with MMIHS. During a follow-up ultrasound at 26 weeks, one of the twins had multiple anomalies including: a pelvic cystic structure with a keyhole appearance, enlarged stomach, dilated bowel, and prominent renal pelves. Prenatal diagnosis of MMIHS can be possible on ultrasound findings with a positive family history.     

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.     

Prenatal spontaneous closure of gastroschisis: a paradoxal evolution with poor outcome

Usually considered as an isolated malformation carrying a rather good postnatal prognosis, gastroschisis may however occasionally bear an unfavourable outcome despite reassuring ultrasound follow-up. We report on the case of a fetus with gastroschisis diagnosed at 13 weeks of gestation followed by a progressive bowel absorption and closure of the abdominal defect at 24 weeks, associated with a 10 to 15mm intra-abdominal bowel tract dilatation. At birth, the infant did not show any recognizable ventral wall defect or scar. Surgical exploration was decided due to the presence of a high level bowel tract occlusion associated with a dilated proximal jejunum on standard abdominal X-ray radiograph. Long-segment atresia of the midintestine without any possible surgical option was observed. The infant died at day 5.     

Intrauterine intussusception presenting as fetal ascites at prenatal ultrasonography

Intrauterine intussusception, an uncommon cause of bowel obstruction, has rarely been detected by prenatal ultrasonography. We report two cases of intrauterine intussusception after gestation, which presented as isolated fetal ascites at 30 weeks of gestation by ultrasonography. In case 1, on the follow-up ultrasonography at 32 weeks of gestation, the previously observed ascites had disappeared, whereas the echogenicity of the bowel was increased without any sign of dilation, suggesting the presence of meconium peritonitis. The fetus was delivered at 39 weeks. In case 2, however, the amount of fetal ascites became increased, and the fetus was delivered at 34 weeks of gestation. After delivery, both infants were surgically explored with resection of the ileum with end-to-end anastomosis because of intrauterine intussusception and ileal atresia. From the experience of these cases, we suggest that the ultrasonographic finding of isolated or transient fetal ascites might contribute to the early diagnosis and management of intrauterine intussusception.     

Umbilical cord ulceration after prenatal diagnosis of duodenal atresia with interstitial deletion of chromosome 13q: a case report

Umbilical cord ulceration complicated by massive local hemorrhage may be a lethal event in the fetus, and this ulceration has been reported to be associated with upper intestinal atresia. The diagnosis of umbilical cord bleeding is difficult. We present a case of umbilical cord ulceration, hemorrhage, and duodenal atresia which had, in addition, an interstitial deletion of chromosome 13q. A female infant weighing 1,691 g was delivered by cesarean section at 34 weeks of gestation and had resuscitation and laparotomy. Just before the cesarean section, ultrasonography showed a 'double bubble' sign and a linear shadow, suggesting fibrin in the amniotic cavity. This finding may help in the diagnosis of bleeding from the cord.     

Prenatal diagnosis of pelvic kidney

A 30-year-old woman had serial ultrasound scans from 28 weeks' gestation which revealed the presence of a cystic area in the fetal pelvis. The 'cyst' remained unchanged until delivery at 41 weeks. Fetal growth and amniotic fluid volume were normal throughout. A pelvic kidney was confirmed at birth. The differential diagnosis and antenatal management of this 'cyst' are discussed.     

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.     

Isolated torsion of the fallopian tube during pregnancy: a case report

BACKGROUND: Isolated fallopian tube torsion during pregnancy is a rare condition, and only 16 cases have been reported. In all but 1 case the right tube was affected. We report the second case of isolated left fallopian tube torsion during pregnancy. CASE: A 23-year-old primigravida presented at 22 weeks of gestation with left lower abdominal pain. Sonography depicted a simple cystic mass adjacent to the left uterine border. Laparotomy revealed torsion of the left hydrosalpinx together with a paraovarian cyst. The patient delivered a healthy infant at term after an otherwise-uneventful pregnancy. CONCLUSION: As the gravid uterus increases the risk for fallopian tube torsion, this condition should be included in the differential diagnosis of lower abdominal pain during pregnancy.     

Prenatal diagnosis of a fibrosarcoma of the thigh: a case report

We report a rare case of fibrosarcoma of the thigh suspected prenatally. At 27 weeks of gestation a voluminous, vascularised mass was discovered at ultrasound on the foetus' left leg, suggestive of haemangioma or a fibrosarcoma. There were no signs of heart failure. A rapid increase in the tumour mass was noted and a caesarean section was carried out at 39 weeks because of abnormal foetal heart rate. Postnatal ultrasound examination was comparable to that carried out prenatally; pathological examination of the mass biopsied and immunohistochemical investigation provided a diagnosis of congenital fibrosarcoma. After neoadjuvant chemotherapy and surgery the infant is now in complete remission without amputation.     

Fetal anal atresia presenting as transient bowel dilatation at 16 weeks of gestation

Congenital anal atresia is a rare abnormality which in two thirds of the cases is associated with other congenital abnormalities or syndromes. Prenatal diagnosis is usually achieved in cases with coexisting abnormalities. The diagnosis of isolated anal atresia is extremely difficult and can be suspected in the presence of colon dilatation. We present the case of a fetus in which marked dilatation of the colon was diagnosed at 16 weeks of gestation. Four weeks later the sonographic appearance of the bowel was normal and remained normal for the rest of the pregnancy. Anal atresia was diagnosed immediately after birth and corrected surgically. No other abnormalities were present. This case report illustrates that in anal atresia, bowel dilatation may be only transient.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

Prenatal diagnosis of cystic bladder distension secondary to obstructive uropathy

We report the perinatal findings of a huge midline posterior cystic bladder distension secondary to lower urinary tract obstruction and prune-belly syndrome in a male fetus. A 40-year-old woman, gravida 3, para 0, was referred at 21 gestation weeks with sonographic findings of anhydramnios and a fetus with a 9.5 x 6.0 cm intra-abdominal cystic mass containing two chambers. The in utero ultrasound-guided fetal bladder drainage using a single needle aspiration and the ultrasound follow-ups of fetal bladder filling provided a diagnostic aid. This method helped to show the position of the bladder and the cystic bladder mass as well as the status of communication in response to decompression or filling of the fetal bladder. Cytogenetic analysis revealed a 46,XY karyotype. Autopsy showed agenesis of the posterior urethra, prominent megacystis, a cystically distended mass arising from the lower posterior bladder, hydronephrosis, megaureters, and anorectal agenesis with an intestinal blind end adherent to the posterior wall of the uterus. There were no urogenital duplication, hindgut duplication, or urachal abnormalities. The contracted bladder had a full-thickness muscular wall with a trigone and two ureteral orifices while the cystically distended bladder did not have any opening and was lined by a very thin wall. Histology of the cystic bladder wall demonstrated typical urothelium, lamina propria and muscularis propria. The pathogenesis and differential diagnosis of cystic bladder distension are discussed.     

Three fetuses karyotyped as Turner syndrome with cystic hygroma developing hydrops: prognosis and outcome

INTRODUCTION: We present three cases of fetuses diagnosed as Turner syndrome with cystic hygroma (CH) developing hydrops to discuss the prenatal diagnostic and prognostic criteria of CH in ultrasound and outcome of the fetuses. CASES: The first case was 30-year-old pregnant woman with a nuchal translucency measurement of 8 mm at 12 weeks' gestation. Serial ultrasound examinations revealed non-septated cystic hygroma and hydrops. The pregnancy was terminated at the 18th week of gestation. Diagnosis of CH was made at 14 and 15 weeks of gestation in case 2 and case 3, respectively. Ultrasound revealed large cystic septated sacs in the nuchal area combined with serosal fluid collection and cutaneous edema. Spontaneous fetal demise occured at 21 and 16 weeks of gestation in cases 2 and 3, respectively. All fetuses were diagnosed as Turner syndrome.     

Prenatal diagnosis of a congenital bladder diverticulum. Case report and benefits of prenatal diagnosis.

A case of congenital bladder diverticulum diagnosed at 37 weeks of gestation (measured from the first day after the last day of the last menstrual period) is reported. Delivery took place 24 h later. A postnatal urologic work-up confirmed the diagnosis of asymptomatic congenital bladder diverticulum. The infant underwent laparotomic surgery at the age of 6 months, with an extravesical diverticulectomy and ureteral reimplantation. There were no complications. This is the first case reported in the literature of a prenatal diagnosis of a congenital bladder diverticulum. This new aspect allows early management and avoidance of the diagnostic meanders to which the discovery of a pelvic mass might lead, as well as the complications that can follow bladder diverticula.     

Fetus in fetu--from prenatal ultrasound and MRI diagnosis to postnatal confirmation

We report a case of fetus in fetu presented as a complex intra-abdominal heterogeneous cystic lesion during ultrasound examination of the fetus at 25 weeks of gestation. Progressive growth of this mass was noted in the prenatal period. Fetal magnetic resonance imaging provided additional information to aid in the prenatal diagnosis. This allows proper counselling for the parents and helps to plan the postnatal management. Surgical excision was carried out in the early neonatal period and the diagnosis of fetus in fetu was confirmed.     

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.     

Fetal adrenal haemorrhage--two-dimensional and three-dimensional imaging

A case of prenatal adrenal haemorrhage first detected by 2-dimensional and 3-dimensional sonography at 27 weeks' gestation is reported. Ultrasound examination showed a large cystic mass (32 x 27 x 27 mm) in the right suprarenal region of the fetus. Two weeks later, the mass had slightly increased in size demonstrating hyperechoic areas within the cyst. Further serial ultrasound examinations revealed a progressive organisation of the cystic mass associated with a moderate reduction in size. The diagnosis of adrenal haemorrhage was confirmed by postnatal follow-up sonograms as the mass decreased in size from 28 x 21 x 21 mm on day 1 to 23 x 18 x 17 mm on day 42. Course and sonographic signs were typical for adrenal haemorrhage and the neonate was therefore managed without surgical exploration. The child is developing normally at 6 months of age.     

Prenatal diagnosis of a subamniotic hematoma

A case of a subamniotic hematoma was diagnosed at 34 weeks of gestation. Pregnancy and delivery were uneventful. The ultrasound features of a subamniotic hematoma, and the differential diagnosis with lesions of less favorable outcome are described.