Abstract
BackgroundThe antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy. Therefore we believe this is the first case report of an antenatal diagnosis of combined pure esophageal and duodenal atresia in a twin gestation.Case presentationWe present a case of a 30-year-old G1P0 white woman at 22-week gestation with a monochorionic-diamniotic twin pregnancy discordant for esophageal atresia, duodenal atresia with gastric perforation, hypoplastic left heart structures, and significant early gestation maternal polyhydramnios. In this case, fetal magnetic resonance imaging was able to depict additional findings including area of gastric wall rupture, hiatal hernia, dilation of the distal esophagus, and area of duodenal obstruction and thus facilitated the proper diagnosis. After extensive counseling at our multidisciplinary team meeting, the parents elected to proceed with radiofrequency ablation of the anomalous twin to maximize the survival of the normal co-twin. The procedure was performed successfully with complete cessation of flow in the umbilical artery and complete cardiac standstill in the anomalous twin with no detrimental effects on the healthy co-twin.ConclusionsPrenatal diagnosis of complex anomalies in twin pregnancies constitutes a multitude of ethical, religious, and cultural factors that come into play in the management of these cases. Fetal magnetic resonance imaging provides detailed valuable information that can assist in management options including possible prenatal intervention. The combination of a cystic structure with peristalsis-like movement above the diaphragm (for example, “the upper thoracic pouch sign”), polyhydramnios, and progressive distention of the stomach and duodenum should increase suspicion for a combined pure esophageal and duodenal atresia.
Highlights
ConclusionsPrenatal diagnosis of complex anomalies in twin pregnancies constitutes a multitude of ethical, religious, and cultural factors that come into play in the management of these cases
The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence
Fetal magnetic resonance imaging provides detailed valuable information that can assist in management options including possible prenatal intervention
Summary
Upon review of the literature, this is the first report of prenatal diagnosis of both pure EA and DA findings in one fetus of a twin gestation. The presence of a cystic structure with peristalsis-like movement above the diaphragm (for example, “the upper thoracic pouch sign”), polyhydramnios, and progressive distention of the stomach and duodenum, provide a high index of suspicion of a combined pure EA and DA. Understanding the variety of abnormalities associated with EA and DA in the prenatal period and understanding the salient US and MRI characteristics of these two structural abnormalities alone and in combination, are invaluable in the counseling and management options for patients. Given that selective reduction of anomalous fetuses is a valid management option, especially to maximize co-twin survival in monochorionic-diamniotic twin gestation, a reasonably firm diagnosis based on imaging modalities is necessary as autopsy is not an option in reduced pregnancies
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