Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature

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.

In-utero gastric perforation from combined duodenal and esophageal atresia without consistent polyhydramnios

“…In a recent literature review, Abou-Char et al found only two cases of visceral rupture. In their own case, gastric wall rupture was noted on fetal MRI in one fetus of a monochorionic-diamniotic twin pregnancy [ 4 ], and in Mitani et al , dilated structures noted on 26-weeks’ ultrasound were subsequently decompressed and associated with massive ascites 2 days later, suggesting enteric perforation [ 6 ]. Polyhydramnios was described in both cases and is an expected finding with in-utero gastrointestinal obstruction, making this case unique with intermittent and mildly elevated AFI.…”

“…Concurrent duodenal and esophageal atresia is rare with few cases described in the literature [ 3–5 ]. Among those reported, specific prenatal imaging findings include the classic ‘double-bubble’ sign, gastric distention, polyhydramnios and a cystic thoracic structure consistent with a blind esophageal pouch [ 4 , 5 ]. When duodenal and esophageal atresia present together, the diagnosis can be difficult given the alterations in expected sonographic findings [ 6 ].…”

Esophageal atresia in twins compared to singletons: In utero manifestation and characteristics

“…This is the first study to address the comparison of the prenatal manifestation of EA/TEF between twins and singletons, and furthermore, between monochorionic and dichorionic pregnancies. The literature is mostly comprised of various case reports 27‐30 and a few epidemiologic studies with little reference to twins 31 . The only two existing articles on EA/TEF in twins address aspects other than prenatal diagnosis; One studied the concordance rate of EA/TEF in twins 32 and the other studied possible underlying mechanisms for the development of EA/TEF in twins 18 …”

Isolated esophageal atresia misdiagnosed as twin‐to‐twin transfusion syndrome

“…EA is a rare anomaly with an incidence of 1–2 per 5000 births, which occurs more frequently in twins than in singletons 1 , while TTTS affects 15% of monochorionic pregnancies 2 . Despite the rapidly evolving advancement in fetal assessment in utero , prenatal diagnosis of EA is still suboptimal, with an estimated diagnostic rate of 50% 3 .…”