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PubMed1998

The upper neck pouch sign: a prenatal sonographic marker for esophageal atresia.

Prenatal suspicion of esophageal atresia is usually based on the finding of a small or absent fetal stomach in association with polyhydramnios. As similar findings may be generated by other abnormalities, confirmation of the diagnosis is generally not possible until birth. We present a case in which the suspicion of esophageal atresia was raised in the 22nd week of pregnancy in the presence of a small stomach bubble associated with a persistent left superior vena cava. The diagnosis was confirmed 4 weeks later by direct visualization of the fluid-filled blind-ending esophagus during fetal swallowing, which we called the upper neck pouch sign. This is the first case in which the onset of this sonographic entity was specifically observed on serially repeated sonograms as early as the 22nd week. The appearance of this direct sign of esophageal atresia is described, and the literature is reviewed.

Adult↗
PubMed1998

Prenatal diagnosis and outcome of subamniotic hematomas.

Subamniotic hematomas are classical placental pathological lesions resulting from the rupture of chorionic vessels near the cord insertion. Most subamniotic hematomas are found after birth and result from excessive traction on the umbilical cord at delivery. The development of these lesions has been rarely reported in utero. We report here five cases of subamniotic hematomas diagnosed by ultrasound between 18 and 30 weeks of gestation. The sonographic features were those of a poorly reflective oval-shaped cystic mass overlying the fetal plate of the placenta and covered in a thin membrane. In all the cases, a cystic structure containing a thrombotic mass arising from the amniotic membrane, which was attached to the fetal placental surface, was found after delivery. A high maternal serum alpha-fetoprotein level was found retrospectively in the four cases for which this information was available. Two pregnancies were complicated by slow fetal growth, one by vaginal bleeding and one by polyhydramnios. These findings demonstrated that subamniotic hematoma can be accurately diagnosed in utero by ultrasound and differentiated from other lesions of the placental chorionic plate. The findings also show that, although the lesion is located between the chorion and the amnion, it can be associated with fetomaternal hemorrhage and with fetal growth restriction.

Female↗
PubMed1998

Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography.

We report a case of the prenatal diagnosis of a very rare anomaly, namely isolated otocephaly, using two-dimensional and three-dimensional ultrasound at 24 weeks of gestation. Two-dimensional ultrasound revealed polyhydramnios, absence of a stomach shadow, hypotelorism and a proboscis-like mass. Three-dimensional ultrasound gave a precise demonstration of the striking craniofacial features of otocephaly including agnathia, synotia, microstomia and protuberance of the nose-mouth fusion. The use of three-dimensional ultrasound provided a whole view of the very rare lethal malformation in utero and contributed significantly to prenatal diagnosis.

Abortion, Legal↗
PubMed1999

Early prenatal diagnosis of cord entanglement in monoamniotic multiple pregnancies.

OBJECTIVES: Cord entanglement is a severe complication in monoamniotic multiple pregnancies. Three cases were reviewed to determine how early ultrasound diagnosis might improve counselling and management. METHODS: In two monoamniotic twin and one dichorionic diamniotic triplet pregnancies, cord entanglement was detected between 10 and 18 gestational weeks by color Doppler and pulsed Doppler velocimetry. Pregnancies were followed up on a weekly basis with special observation of fetal behavior and use of color Doppler velocimetry. RESULTS: In Case 1, a monoamniotic twin pregnancy with cord entanglement close to the umbilical insertions was diagnosed at 10 weeks. Longitudinal follow-up showed intrauterine death of both twins at 15 weeks. In Case 2, entanglement of the umbilical cords of two monoamniotic triplets within a dichorionic diamniotic triplet pregnancy was diagnosed at 10 weeks. The pregnancy continued uneventfully until 35 weeks when cord entanglement was confirmed at Cesarean section. All triplets have since developed normally. In Case 3, monoamniotic twins were diagnosed at 18 weeks. Color Doppler detected side-by-side insertion of the umbilical cords and Doppler velocimetry suggested an entanglement at the chorionic plate. The pregnancy was complicated by polyhydramnios. Cesarean section at 36 weeks confirmed cord entanglement at the chorionic plate. Postnatal computer angiography and morphological examination of the placenta showed the presence of superficial artery-to-artery and vein-to-vein anastomoses and of deep arteriovenous shunts. The development of the twins was uneventful. CONCLUSIONS: Diagnosis of cord entanglement is feasible early in gestation. Future protocols are proposed to document the gestational age at detection, the location, and the Doppler flow patterns and to facilitate the assessment of short- and long-term development.

Adult↗
PubMed1999

Prenatal sonographic features of embryonal rhabdomyosarcoma.

We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed.

Adult↗
PubMed1999

Gastroschisis associated with bladder evisceration complicated by hydronephrosis presenting antenatally.

We report here a case of gastroschisis associated with bladder evisceration and complicated by rapidly developing hydronephrosis diagnosed antenatally. The timing of delivery was determined by the hydronephrosis, associated bowel dilatation and polyhydramnios. The case highlights the need for continuing ultrasonographic surveillance of fetuses with gastroschisis to identify further associated complications which were hitherto absent but whose presence may influence the timing of delivery and neonatal care.

Abnormalities, Multiple↗
PubMed1999

Congenital diaphragmatic hernia: ultrasonic measurement of fetal lungs to predict pulmonary hypoplasia.

OBJECTIVE: The purpose of this study was to assess the value of biometric lung measurements for the prediction of severe fetal pulmonary hypoplasia in congenital diaphragmatic hernia and to determine whether a correlation between lung measurements and autopsy findings or neonatal outcome could be established. DESIGN: Prospective study, between 1991 and 1997. SUBJECTS: Nineteen fetuses with congenital diaphragmatic hernia. METHODS: In addition to standard biometry, sonographic measurement of the transverse thoracic diameter, sagittal thoracic diameter, fetal lung diameters at the level of the four-chamber view and lung/thoracic circumference ratio were performed. These were compared with the standard curves defined by Merz and colleagues. Autopsy examinations were performed to determine lung weight, lung weight/body weight ratio and radial alveolar count. RESULTS: Five fetuses (26%) were terminated before 24 weeks of gestation. All of these fetuses had lung measurement values below the 5th centile. Eleven of 14 fetuses (78.6%) with pulmonary hypoplasia diagnosed after 24 weeks of gestation died postnatally. The mortality rate was 70% (7/10) in the fetuses without associated anomalies. The sonographic diagnosis of fetal pulmonary hypoplasia was made in all fetuses who died postnatally. All fetuses with a lung diameter/thoracic circumference ratio below 0.09 died. Three fetuses, which had values within the normal range, survived. In contrast, measurements of the bony thorax (transverse and sagittal thoracic diameters, thoracic circumference) did not provide an indication of the presence of fetal pulmonary hypoplasia. Pulmonary hypoplasia was confirmed at autopsy in all fetuses on the basis of lung weight, lung/body weight ratio or radial alveolar count. Concomitant with pulmonary hypoplasia was polyhydramnios in ten fetuses (71.4%), mediastinal shift in 11 fetuses (78.6%), intrathoracic herniated stomach in six fetuses (42.9%) and associated malformations in four fetuses (28.6%). Postnatal mortality for these conditions was 80%, 78.6%, 100% and 100%, respectively. Postnatal mortality was 75%, 70% and 100% in the fetuses with an isolated diaphragmatic hernia. CONCLUSION: The results of this investigation suggest that the assessment of fetal lung diameter and the use of the lung diameter/thoracic circumference ratio are further useful prognostic parameters in the management of congenital diaphragmatic hernia.

Biometry↗
PubMed2000

Diagnosis of a fetal mesoblastic nephroma by 3D-ultrasound.

We report a case of a fetal renal tumor detected prenatally on 3D-ultrasound. As the lesion was well encapsulated the initial sonographic diagnosis was that of a nephroblastoma. Volume calculation by the 3D technique gave a reliable estimation of the tumor size. Contrary to all published case reports concerning antenatally diagnosed mesoblastic nephromas, there was no polyhydramnios. Elective delivery was performed by Cesarean section at 38+ weeks gestation. The neonate underwent left nephrectomy on the second day of life. The subsequent course was uneventful without recurrence of the tumor.

Adult↗
PubMed2000

Prenatal ultrasound diagnosis of congenital cystic adenomatoid malformation of the lung: a report of 26 cases and review of the literature.

OBJECTIVES: To evaluate the sonographic appearances and prenatal natural history of congenital cystic adenomatoid malformation of the lung. METHODS: In each case a detailed examination of the thoracic lesion and a complete fetal survey was performed. The pregnancies that elected to continue were followed to term. RESULTS: A total of 26 cases were identified. The pregnancy was electively terminated in nine cases (35%). All the remaining 17 pregnancies ended in liveborn infants (100%). The lesion disappeared completely in three fetuses (18%). Of the 14 infants in whom the lesion was confirmed at birth nine required surgery in the neonatal or post-natal period. Five children did not undergo surgery. CONCLUSIONS: Conservative management appears to be an adequate medical practice in cases of isolated congenital unilateral cystic adenomatoid malformation of the lung, in the absence of hydrops and/or acute polyhydramnios.

Adult↗
PubMed2000

Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.

Adult↗
PubMed2000

Selective versus non-selective laser photocoagulation of placental vessels in twin-to-twin transfusion syndrome.

OBJECTIVE: We have recently described a surgical technique for the treatment of twin-to-twin transfusion syndrome (TTTS) that allows precise identification of vascular anastomoses (selective laser photocoagulation of communicating vessels, or S-LPCV). The purpose of this study was to compare S-LPCV with the previous non-selective technique (NS-LPCV) that targeted all vessels crossing the dividing membrane. MATERIALS AND METHODS: Patients with TTTS were treated with NS-LPCV from May 1994 to June 1997 and with S-LPCV from July 1997 to December 1999. TTTS was defined as polyhydramnios of > or = 8 cm maximum vertical pocket (MVP) in the recipient twin and oligohydramnios of < or = 2 cm MVP in the donor twin. Outcome was measured as survival per number of pregnancies and per number of fetuses together with limited morbidity data. RESULTS: NS-LPCV was used in 18 patients and 74 were treated with S-LPCV. Three patients interrupted their pregnancies electively after surgery (S-LPCV) and were removed from further analysis. Survival of at least one fetus was higher in S-LPCV (83.1%) than in NS-LPCV (61.1%) (P = 0.04), mostly due to a lower rate of dual intra-uterine fetal demise in S-LPCV (5.6%) than in NS-LPCV (22%) (P = 0.05). There were more hydropic fetuses in the NS-LPCV group (27%) than in the S-LPCV group (5.4%), but this difference did not account for the results. There was no difference in the survival per number of fetuses between the two groups. CONCLUSIONS: S-LPCV represents an important evolution in the surgical treatment of TTTS. The use of this technique by all centers should allow better comparison of fetal survival and morbidity rates. S-LPCV should be the standard technique in trials comparing amniocentesis versus laser for the treatment of severe TTTS.

Arteriovenous Anastomosis↗
PubMed2000

Color Doppler imaging of placental masses: differential diagnosis and fetal outcome.

OBJECTIVES: To evaluate the application of Doppler imaging in the differential diagnosis of placental masses and perinatal outcome. METHODS: A retrospective study of all cases referred for suspicion of placental chorioangioma over a nine and a half year period. Only cases in which color flow mapping and pulsed Doppler examination were performed were considered. RESULTS: Fourteen cases fulfilled the criteria and included seven cases of chorioangioma, two cases of placental hemorrhage and five cases of a placental mass which resolved during pregnancy. All cases of chorioangioma could be distinguished by increased blood flow within the mass. Polyhydramnios was associated with six cases of chorioangioma. Rapid tumor growth, premature labor and neonatal death occurred in one case. Premature labor occurred in six cases of chorioangioma and both cases of placental hemorrhage. IUGR was associated with two cases of chorioangioma and both cases of placental hemorrhage. All cases of resolving placental mass delivered uneventfully at term. CONCLUSIONS: Color Doppler is a useful tool in the differentiation of placental masses. Such masses should be followed up regularly because their growth rate is variable and unpredictable.

Diagnosis, Differential↗
PubMed2001

Congenital microvillous inclusion disease presenting as antenatal bowel obstruction.

Prenatal ultrasound has led to confidence in the antenatal diagnosis of intestinal obstruction allowing counseling and birth planning. We describe a male infant of a diabetic mother who had an antenatal diagnosis of distal bowel obstruction. This baby was subsequently found not to have bowel obstruction, but a congenital enteropathy - microvillous inclusion disease. The antenatal scans had demonstrated polyhydramnios as well as multiple fluid-filled dilated loops of bowel in the fetal abdomen. To our knowledge, similar prenatal ultrasound findings have not been previously described in this condition. The baby was delivered in a pediatric surgical center and postnatally there was no evidence of bowel obstruction either clinically or on abdominal X-ray. This baby initially fed well, but became collapsed and acidotic on his third day, having lost 26% of his birth weight due to excessive stool loss. The diagnosis of microvillous inclusion disease was made by electron microscopy of a small bowel biopsy. Congenital microvillous inclusion disease is a very rare inherited enteropathy with high mortality and morbidity. This condition, and other enteropathies, should be considered in cases in which antenatally diagnosed bowel obstruction is not confirmed after birth.

Adult↗
PubMed2001

Prenatal diagnosis of fetal ovarian hyperstimulation.

A case of prenatal diagnosis of fetal ovarian hyperstimulation in a pregnancy of 35 weeks is reported. Two large cystic septate ovaries with no internal vegetations were observed in the fetal abdomen. The fetus was macrosomic and the remaining morphology was normal. Polyhydramnios and placental thickening were present, with no other macro- or microscopic alterations. The only significant maternal change detected was elevation of blood beta-human chorionic gonadotropin (beta-hCG) levels. Evaluation of the newborn confirmed the prenatal diagnosis, with progressive and spontaneous regression of fetal ovarian volume and of maternal serum beta-hCG occurring after delivery.

Adult↗
PubMed2001

Serial sonographic findings in a fetus with congenital hiatal hernia.

A continuum of prenatal findings in a case of hiatal hernia is described. Second-trimester scans showed absence of fetal stomach and polyhydramnios suggestive of esophageal atresia. Third-trimester scans revealed a dilated tubular structure in the thoracic cavity with intermittent visualization of an intra-abdominal small stomach. A diagnosis of hiatal hernia was entertained. After birth, the diagnosis of a dilated esophagus with the stomach herniated into the thoracic cavity through a very lax esophageal hiatus was confirmed and the baby underwent corrective surgery.

Abnormalities, Multiple↗
PubMed2001

Two case reports of rare fetal tumors: an indication for surface rendering?

Fetal tumors are rare and can be difficult to diagnose in utero. This report describes one case of an extrarenal rhabdoid tumor and one case of a giant congenital melanocytic nevus. Both presented with moderate polyhydramnios and were prenatally detected at 31 weeks of gestation with two-dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of these tumors especially for the parents and the multidisciplinary team. Three-dimensional sonography proved to be a valuable addition to the prenatal armamentarium for the evaluation of these fetal tumors although it is not mandatory for their assessment and clinical management.

Adult↗
PubMed2001

Prenatal ultrasound diagnosis of Leroy I cell disease.

Leroy I cell disease is a rare autosomal recessive disorder which progressively leads to death within the first decade of life. Invasive prenatal diagnosis is possible but is only undertaken in families who have previously had an affected child. We describe the antenatal ultrasound diagnosis of the disease in a case referred at 30 weeks' gestation for suspected polyhydramnios.

Adult↗
PubMed2001

Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter.

We present the prenatal ultrasound findings in a case of postnatally identified paternal uniparental isodisomy 14q12-qter. Increased nuchal translucency and a large omphalocele were identified at 14 weeks' gestation. Karyotyping revealed a normal male, 46,XY. As gestation advanced, polyhydramnios developed, skeletal abnormalities involving the long bones and chest became evident, hand contractures developed, and the presumed large omphalocele was in part found to be a large ventral hernia, as echogenic adipose tissue could be seen in the abdominal wall near to the cord insertion. Prenatal findings were confirmed after delivery and central nervous system imaging revealed lissencephaly. The combination of an abdominal wall defect with either increased nuchal translucency or skeletal abnormalities should prompt an investigation for uniparental disomy 14 even if the karyotype is normal.

Abnormalities, Multiple↗