Prenatal detection of esophageal atresia: A systematic review and meta‐analysis

Abstract

Introduction:The primary aim of this systematic review was to quantify the diagnostic performance of ultrasound, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia prenatally. The secondary aim was to explore the accuracy of individual imaging signs in identifying this anomaly.Material and methods: MEDLINE, Embase and Cochrane databases were searched.The quality of studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio for the predictive accuracy of ultrasound, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia were computed using the hierarchical summary receiver operating characteristic or DerSimonian-Laird random-effect model, according to the number of studies included in each analysis. PROSPERO registration number: CRD42017055828.Results: Twenty studies (73 246 fetuses, 1760 affected by esophageal atresia) were included. Overall, prenatal ultrasound had a sensitivity of 31.7%. Only two studies reported all data for diagnostic accuracy; based on these studies, prenatal ultrasound had a sensitivity of 41.9%, a specificity of 99.9%, a positive likelihood ratio of 88.1, a negative likelihood ratio of 0.58 and a diagnostic odds ratio of 153.7. Prenatal ultrasound correctly identified 77.9% of cases with esophageal atresia and 21.9% esophageal atresia with an associated tracheo-esophageal fistula. Polyhydramnios was present in 56.3% of cases affected by esophageal atresia, and a small or absent stomach was identified in 50.0% cases. When performed following a suspicious ultrasound, fetal magnetic resonance imaging had an good overall diagnostic accuracy for esophageal atresia, with a sensitivity of 94.7%, a specificity of 89.3%, a positive likelihood ratio of 8.8, a negative likelihood ratio of 0.06 and a diagnostic odds ratio of 149.3. Finally, amniotic fluid analysis with an esophageal atresia index ≥3 had a sensitivity of 89.9% and a specificity of 99.6% in detecting esophageal atresia. Conclusions:Ultrasound alone is a poor diagnostic tool for identifying esophageal atresia prenatally, and has a high rate of false positive diagnoses. Magnetic resonance imaging and amniotic fluid analysis have high diagnostic accuracy for esophageal atresia. We would recommend their use following a suspicious ultrasound.

Esophageal Atresia – A Retrospective Study

“…In our study, we found that polyhydramnios was present in 66.66% of cases. A survey conducted in 2019 [23], showed that approximately 58% of patients with tracheoesophageal fistula associated polyhydramnios. Another study by Pardy et al [23] showed that 56.3% of cases with esophageal atresia have an increased amniotic fluid index and associated a small or absent gastric bubble.…”

“…A survey conducted in 2019 [23], showed that approximately 58% of patients with tracheoesophageal fistula associated polyhydramnios. Another study by Pardy et al [23] showed that 56.3% of cases with esophageal atresia have an increased amniotic fluid index and associated a small or absent gastric bubble. Analyzing the data obtained in our study, we found that out of the 12 cases diagnosed antenatally with esophageal atresia, in 7 cases, the gastric bubble was absent.…”

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

“…Contrary to our study, most previous studies did not require the demonstration of an esophageal pouch as a criterion for the prenatal diagnosis of EA/TEF, but rather regarded a persistently small/absent stomach accompanied by polyhydramnios, equally diagnostic. 3,12,[36][37][38] This approach has been shown to be inaccurate. Previous studies show that only a third of fetuses exhibiting a small/absent stomach with polyhydramnios and up to 10% cases of small/absent stomachs without polyhydramnios, have EA/TEF.…”

“…Esophageal Atresia with or without Tracheo-esophageal Fistula (EA/TEF) occurs in 2.3-2.4 out of 10 000 births. 1,2 Approximately one third of fetuses with EA/TEF are diagnosed prenatally 1,3 . Prenatal detection relies on three sonographic clues: polyhydramnios, absent or small stomach bubble and an esophageal pouch-the dilated blind-end of the upper esophageal segment.…”

“…[14][15][16][17] Compared to singletons, twin pregnancies have a higher rate of EA/TEF, 18,19 necessitating a higher index of suspicion when scanning twins. Polyhydramnios is the most common indirect sign of EA, 3 making it an important indication to scan for EA/TEF. However, there are factors that might affect the perception and attitude towards polyhydramnios in multiple pregnancies.…”