Prenatal diagnosis of campomelic dysplasia.

A pregnant woman of 24 weeks' gestation underwent ultrasound examination for fetal anomaly screening. The ultrasound findings revealed a single fetus with biparietal diameter of 61 mm, which was consistent with menstrual dates. The thoracic cage was small compared to the abdomen with hypoplastic scapulae and normally ossified unfractured ribs. All bony structures demonstrated normal echogenicity. The upper long bones were normal length and shape. Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clearly demonstrated. A prenatal diagnosis of campomelic dysplasia was made and was confirmed by postnatal radiography and autopsy. The sonographic diagnosis in this case was based on the findings of small thorax, hypoplastic scapulae and bowed tibiae and femurs.

Early prenatal sonographic diagnosis of congenital hypophosphatasia.

A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. Early cordocentesis was successfully performed at 15 weeks' gestation to determine fetal alkaline phosphatase concentration. This was undetectable. The prenatal diagnosis of congenital hypophosphatasia was made. After counselling, the woman decided to opt for termination of pregnancy which was performed vaginally. Post-abortion findings confirmed the prenatal diagnosis. To our knowledge, this is the earliest sonographic diagnosis of this condition reported.

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.