Distention of the fetal duodenum: abnormal finding?

We investigated whether a fluid-filled duodenum is observed in normal fetuses. In part 1 of the study a view in the region of the duodenum was obtained during routine obstetric ultrasonography from 123 low-risk patients. All examinations demonstrated a collapsed duodenum. No gastrointestinal abnormalities were found in these infants. In part 2 of the study, 1163 fetuses (both high-risk and low-risk) were evaluated with real-time scanning, and duodenal fluid without a "double bubble" was seen in one fetus who had a duodenal web. We conclude that a nondistended fetal duodenum is the norm. If fetal duodenal dilation is visualized, this may allow for earlier detection of duodenal obstructions.

Fetal muscle biopsy: collaborative experience with varied indications.

OBJECTIVE: To develop a fetal muscle biopsy technique for immunohistochemical diagnosis of Duchenne and Becker muscular dystrophies. METHODS: Data from two clinical centers and one reference laboratory were combined to show 12 completed cases, ten at risk for Duchenne muscular dystrophy, one for Becker muscular dystrophy, and one for mitochondrial myopathy. Samples of fetal gluteal muscle were obtained percutaneously under ultrasound guidance (some with endoscopic assistance) with a biopsy gun. The samples were frozen and assayed for dystrophin by immunohistochemical techniques. RESULTS: Samples were obtained in 11 of 12 (92%) cases, and spontaneous abortion after the procedure occurred in two of 12 (17%) cases. Laboratory diagnoses were possible on small samples, and four of 12 fetuses (33%) were affected. Endoscopy with direct visualization might aid in the procedure. CONCLUSIONS: The development of fetal muscle biopsy allows for an expansion of the diagnostic possibilities for myopathies. The experiences of our two clinical centers show that the procedure can be done with accuracy and acceptable safety. The evolving laboratory experience has reduced the amount of tissue necessary for the diagnosis, increased the sophistication of the immunohistochemical analysis, allowed the diagnosis of abnormalities in different parts of the dystrophin gene, and expanded the indications for the use of fetal muscle biopsy. Fetal muscle biopsy can be used successfully for the diagnosis in otherwise uninformative cases, and there is a wide variety of indications beyond traditional Duchenne muscular dystrophy possible, including female fetuses at risk because of X-autosomal translocations.

Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Invasive prenatal testing has become an important way to evaluate fetuses at increased risk for hereditary disorders. In utero sampling of fetal skin, liver, and muscle may be required to diagnose before-birth disorders that cannot be diagnosed by analysis using chorionic villi or amniotic fluid. In the next few years, many of these conditions will be detected by DNA analysis, and the need for these procedures may decrease dramatically. First performed by fetoscopy, fetal tissue sampling is now most frequently done by inserting a biopsy needle under continuous ultrasonographic guidance. We describe the indications, techniques, complications, and experience with obtaining fetal skin, liver, and muscle biopsy specimens.