Identification of other genetic etiologies of duodenal atresia would be beneficial for purposes of disease characterization, screening and detection, and prenatal diagnosis counseling. Few studies to date have explored other potential genetic etiologies of duodenal atresia, with most genetic investigations being limited to aneuploidy testing. Studies suggest that about one-third of those diagnosed prenatally with duodenal atresia have Down syndrome, and that overall 3–5% of those with trisomy 21 have duodenal atresia. It can present in both an isolated form, in combination with other congenital anomalies, or in association with a known or suspected chromosomal abnormality, particularly trisomy 21. Representative prenatal ultrasound images from cases in the study.ĭuodenal atresia occurs with an incidence of 1 in 5,000 to 1 in 10,000 live births. b Stomach (arrow) with dilatation of proximal bowel (white triangle). Conditions such as fetal volvulus can be life threatening, particularly after late diagnosis thus, analysis of the positive predictive value of the double bubble sign is of importance for ensuring proper prenatal diagnosis counseling and postnatal medical treatment.ĭouble bubble sign. Other gastrointestinal obstructions, such as fetal volvulus, jejunal atresia, or ileal atresia have all been reported to be present in some cases after an ultrasound presentation of a double bubble sign. While the association between a double bubble sign and duodenal atresia is well established, the positive predictive value of the prenatal ultrasonographic sign is not known, with some studies suggesting that false positives or other intestinal obstructions may underlie the finding. This can result when, in the presence of obstruction within the proximal small bowel (most often duodenal atresia), there is dilatation of both the stomach and the duodenal bulb. The “double bubble” sign is an ultrasonographic finding that signifies the presence of two adjacent fluid-filled echolucent structures within the abdomen of a fetus ( Fig.
0 kommentar(er)
