Prenatal ultrasonographic diagnosis of Sprengel's deformity.

Sprengel's deformity is the congenital failure of descent of the scapula. Eulenburg first described this in 1863. Sprengel described 4 cases in 1891; hence, the anomaly has been called Sprengel's deformity. Other terms for this entity are Sprengel's anomaly, Sprengel's shoulder, congenital high scapula, and undescended scapula. In this entity, varying degrees of scapula elevation and scapula hypoplasia occur. In approximately one third of cases, Sprengel's deformity is accompanied by an accessory ossicle, the omovertebral bone, which articulates between the medial border of the scapula and 1 or more of the cervical vertebrae. In the absence of an omovertebral bone, a fibrous fascial sheath extends from the superior angle of the scapula to the spinous process, the lamina, or the transverse process of 1 or more lower cervical vertebrae. This fixation accounts for the medial position and elevation of the scapula. I report a case of prenatal ultrasonographic detection of Sprengel's deformity.

Sonographically detected fetal choroid plexus cysts. Frequency and association with aneuploidy.

Over a 22-month period, 1045 second-trimester pregnancies were evaluated with ultrasound for the presence of choroid plexus cysts. The frequency of fetal choroid plexus cysts was 3.6% (38/1045). The outcome of the 38 fetuses possessing choroid plexus cysts was as follows: One fetus had triploidy, an occurrence not previously reported; one fetus had hydrocephalus and a normal karyotype; the other 36 fetuses were born normal. Our data were combined with those of previously reported series of fetal choroid plexus cysts to determine if chromosomal analysis is necessary in all fetuses possessing a choroid plexus cyst.

Sonographically demonstrated intra-amniotic hemorrhage following transplacental genetic amniocentesis. Frequency, sonographic appearance, and clinical significance.

Over a 9-month period, 11 transplacental amniocenteses were performed. Following completion of amniocentesis, intra-amniotic hemorrhage occurred in all 11 cases. Amniotic masses and intra-amniotic strands occurred in three cases as a result of intra-amniotic hemorrhage. The 11 pregnancies in which transplacental amniocentesis were performed were uncomplicated, and they resulted in normal infants. Transplacental amniocentesis can yield unusual sonographic appearances but does not appear to have an adverse effect on pregnancy outcome.

Hemorrhagic cholecystitis. Sonographic appearance and clinical presentation.

In this retrospective study of 19 patients with hemorrhagic cholecystitis, 14 (74%) patients demonstrated one of the following unusual sonographic features: focal gallbladder wall irregularity; intraluminal membranes; coarse, nonshadowing, nonmobile intraluminal echoes. The clinical presentation of these cases (abdominal pain, 100%; leukocytosis, 74%; fever, 63%) is identical to the classic presentation of acute cholecystitis. Overt gastrointestinal bleeding did not occur.

Evaluation of extratesticular findings in scrotal neoplasms.

The significance and incidence of skin thickness, hydroceles, and epididymal size were evaluated in cases of testicular neoplasm. Skin thickness is unreliable and should not be used to differentiate pathological conditions without standardizing technique. Small hydroceles are common in scrotal neoplasms. Epididymal enlargement was seen in many cases of testicular neoplasia and cannot be used alone as a criterion to differentiate malignant from nonmalignant states.

Prenatal diagnosis and natural history of the fetus with a congenital diaphragmatic hernia: initial clinical experience.

To study the accuracy of prenatal diagnosis and define the natural history of fetal congenital diaphragmatic hernia (CDH), we reviewed experience with CDH at The University of California, San Francisco (UCSF) over the last three years. All nine babies born in our institution (inborns) and six of 11 babies referred from other hospitals after birth (outborns) died, an overall mortality of 75%. All had pulmonary hypoplasia. Forty percent had associated malformations or chromosomal abnormalities, a higher incidence than generally reported. Prenatal sonograms were available in all nine inborn cases. CDH was correctly diagnosed prospectively in only five, but could be recognized retrospectively in all nine cases using the sonographic criteria developed from the study. Polyhydramnios was present in all nine cases; in seven cases sonography was performed because the woman was large-for-dates clinically. There were no false positive interpretations, and when necessary the diagnosis was confirmed by amniography. All nine cases of CDH detected in utero died. Seven deteriorated so rapidly that surgical repair could not even be attempted. Two who had optimal care (maternal transport, immediate resuscitation and operation) died after repair despite maximal intensive care including vasodilator therapy. Despite the theoretical advantages of maternal transport to pediatric surgical specialty centers, a majority of fetuses with a prenatal diagnosis of CDH will die because their lungs are inadequate to support extra-uterine life even at term.

The pathogenesis of prune belly.

Three neonates were born with marked abdominal muscular laxity from three different conditions (posterior urethral valves, nonimmune ascites, and intestinal duplication); two had fetal abdominal distention by ascites documented in utero by obstetric ultrasonographic examination. Another fetus, whose abdominal distention was relieved at 21 weeks' gestation by in utero decompression of urinary obstruction, was born with only mild abdominal changes, which suggests that the "prune belly" phenotype can resolve if distention is relieved early enough. These observations suggest that the abdominal laxity in prune belly syndrome is a simple deformation secondary to abdominal stretching and distention during fetal development and is not an intrinsic generalized mesodermal abnormality.

Management of ventriculomegaly in the fetus.

We studied 24 human fetuses with cerebral ventriculomegaly by serial obstetric ultrasound to define the natural history of fetal ventricular enlargement and to develop a management strategy. In 10 fetuses, ventriculomegaly was associated with other severe anomalies; nine of these families chose to terminate the pregnancy. In three other severely affected fetuses in whom ventriculomegaly was detected serendipitously late in gestation, routine obstetrical management was performed; none survived. Eleven fetuses had ventriculomegaly without associated severe anomalies. Ventriculomegaly remained stable or of moderate severity throughout gestation in nine, resolved gradually in one, and progressed in one who did not have signs of increased intracranial pressure at birth. All of these fetuses were viable; three patients required shunting in the neonatal period, and two others by 5 months of age. Although obstetric ultrasound usually can detect anomalies associated with fetal ventriculomegaly, three fetuses with isolated ventriculomegaly had midline brain malformations that could not be distinguished in utero from hydrocephalus, even in retrospect. Prenatal diagnosis improves perinatal management by allowing counseling, and selective pregnancy termination, or selection of the timing, mode, and place of delivery to optimize outcome. Most fetuses with ventriculomegaly do not require intervention before birth.

Severe nonimmune hydrops fetalis: sonographic evaluation.

Reported survival rates in nonimmune hydrops fetalis vary considerably. Among 27 fetuses exhibiting severe sonographic features of nonimmune hydrops fetalis, 33% survived the neonatal period. For five of the nine survivors, the prognosis remains uncertain or poor. On the basis of sonographic features alone neither prognosis nor potential survivors were reliably predicted.

Alobar holoprosencephaly: ultrasonographic prenatal diagnosis.

Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Specific sonographic findings included a large central cranial fluid collection (a monoventricular cavity lacking ventricular horns and midline structures), a fused thalamus at the floor of this cavity, and characteristic facial features (proboscis, single orbit, single nostril, or severe hypotelorism). Differential diagnosis of the fetus with a large intracranial fluid collection is discussed and illustrated.

Kaolin-induced congenital hydrocephalus in utero in fetal lambs and rhesus monkeys.

A model of congenital hydrocephalus in utero in fetal lambs and rhesus monkeys has been produced by the intracisternal injection of kaolin. Initial attempts to produce hydrocephalus using silicone oil were unrewarding. Hydrocephalus had developed by 2 weeks post-injection and could be followed by ultrasonography. The pathological findings were similar to those reported using kaolin in other species. Ventriculoamniotic shunting, when successful, was capable of partially reversing the deleterious effects of hydrocephalus. The major drawback of the present model is that hydrocephalus is produced during the second rather than the first trimester of pregnancy. However, kaolin produces mainly an obstructive hydrocephalus without other associated brain or systemic anomalies.

Correction of congenital hydrocephalus in utero I. The model: intracisternal kaolin produces hydrocephalus in fetal lambs and rhesus monkeys.

In the fetus with congenital hydrocephalus, obstruction to the flow of cerebrospinal fluid (CSF) results in ventricular dilation and neurologic impairment. Decompression of the obstructed ventricles before birth may ameliorate the damage and allow normal development to proceed. Although appealing, this pathophysiologic rationale has not been adequately tested because a satisfactory fetal model has not been available. We have developed a model of obstructive hydrocephalus in the fetal lamb and rhesus monkey by injecting kaolin into the cisterna magna through the posterior atlanto-occipital membrane early in the last trimester. Preliminary studies injecting silicone oil were unsuccessful. The development of fetal ventriculomegaly was followed using prenatal ultrasonography. Massive hydrocephalus developed in six sheep, three liveborn at term and three stillborn after premature vaginal delivery, and in 2 fetal rhesus monkeys. All treated animals had external signs of hydrocephalus with marked cranial enlargement. Neuropathologic examinations demonstrated fibrosis of the leptomeninges and subarachnoid spaces around the fourth ventricle. Dilation of the lateral and third ventricles resulted, with attenuation of the cerebral white matter. On histologic examination, the grey matter was relatively well preserved, while the white matter was severely attenuated. This model mimics the clinical and pathologic picture seen in human infants and should allow us to study the pathophysiology of congenital obstructive hydrocephalus and the efficacy and feasibility of its correction in utero.

The lateral cerebral ventricle in early second trimester.

In routine imaging of normal early second trimester pregnancies, one will not infrequently encounter potentially confusing cases which may raise the question of fetal hydrocephalus. In a retrospective analysis of 100 cases, this appearance occurred in 10. The anatomic origins of this potential error are discussed, and an imaging technique is described which can be used to exclude fetal hydrocephalus in confusing cases. Close apposition of the normally large choroid plexus with the medial and lateral walls of the ventricular body and atrium indicates normalcy.

A potential pitfall in the ultrasonographic diagnosis of fetal encephalocele.

Abnormalities of the fetal neural axis may be diagnosed prenatally utilizing ultrasonography. Attempts to increase the sensitivity of ultrasonography in the detection of these anomalies run the risk of increasing the false-positive diagnoses. Since the prenatal diagnosis of neural tube defects significantly affects the clinical management of the pregnancy, a false-positive diagnosis of neural tube anomaly must be avoided. The authors describe several cases of patients with polyhydramnios in which the fetal ear protruded into the amniotic fluid, simulating the appearance of an encephalocele on ultrasonography.

Congenital diaphragmatic hernia diagnosed prenatally by ultrasound.

Seven infants born at our institution between July 1979 and June 1982 had congenital diaphragmatic hernia (CDH). Four cases of CDH were correctly identified by fetal ultrasonography. Diagnosis relied upon the demonstration of abdominal organs within the thorax. During this period, no false positive diagnoses of CDH were made. Significant associated sonographic features included polyhydramnios, mediastinal displacement, and distorted upper abdominal anatomy.

Ultrasonographic identification of fetal lower extremity epiphyseal ossification centers.

The reliability of the sonographic identification of the fetal distal femoral epiphyseal ossification center (DFE) and the proximal tibial epiphyseal ossification center (PTE) in the estimation of gestational age (GA) was assessed in 84 singleton pregnancies. We used the presence of a DFE to indicate a GA greater than or equal to 33 weeks, and this method was 95% sensitive, 95% specific, and accurate overall in 95% of a selected cohort of 61 cases. In the same cohort, the presence of the PTE was highly predictive (accuracy of a positive prediction 95%) of a GA greater than or equal to 35 weeks. Ultrasonographic evaluation of fetal lower extremity epiphyseal ossification centers is a promising technique for the estimation of GA during the last trimester of pregnancy.

Real-time vs. static scanning in the diagnosis of abdominal and pelvic abscesses.

The authors prospectively compared real-time and static scanning in 39 patients (44 examinations) suspected clinically of having abdominal or pelvic abscesses. In every case, real-time and static scanning agreed as to the presence or absence of an abscess. In 17 of 19 instances in which abscesses were diagnosed on the basis of ultrasonographic examinations the diagnoses were verified by surgery. Twenty-four of 25 negative ultrasonographic results were confirmed by clinical follow-up. The use of portable real-time ultrasonography to examine seriously ill patients who are unable to be transported to the ultrasound laboratory does not diminish the diagnostic accuracy for suspected abdominal or pelvic abscesses.