Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Department of Neonatology, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ultrasound Obstet Gynecol. 2021 Jul;58(1):92-98. doi: 10.1002/uog.22050.
Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) remains one of the most frequently missed congenital anomalies prenatally. The aim of our study was to elucidate the sonographic manifestation of EA/TEF throughout pregnancy.
This was a retrospective study of data obtained from a tertiary center over a 12-year period. The prenatal ultrasound scans of fetuses with EA/TEF were assessed to determine the presence and timing of detection of three principal signs: small/absent stomach and worsening polyhydramnios, both of which were considered as 'suspected' EA/TEF, and esophageal pouch, which was considered as 'detected' EA/TEF. We assessed the yield of the early (14-16 weeks' gestation), routine mid-trimester (19-26 weeks) and third-trimester (≥ 27 weeks) anomaly scans in the prenatal diagnosis of EA/TEF.
Seventy-five cases of EA/TEF with available ultrasound images were included in the study. A small/absent stomach was detected on the early anomaly scan in 3.6% of fetuses scanned, without a definitive diagnosis. On the mid-trimester scan, 19.4% of scanned cases were suspected and 4.3% were detected. On the third-trimester anomaly scan, 43.9% of scanned cases were suspected and 33.9% were detected. An additional case with an esophageal pouch was detected on magnetic resonance imaging (MRI) in the mid-trimester and a further two were detected on MRI in the third trimester. In total, 44.0% of cases of EA/TEF in our cohort were suspected, 33.3% were detected and 10.7% were suspected but, eventually, not detected prenatally.
Prenatal diagnosis of EA/TEF on ultrasound is not feasible before the late second trimester. A small/absent stomach may be visualized as early as 15 weeks' gestation. Polyhydramnios does not develop before the mid-trimester. An esophageal pouch can be detected as early as 22 weeks on a targeted scan in suspected cases. The detection rates of all three signs increase with advancing pregnancy, peaking in the third trimester. The early and mid-trimester anomaly scans perform poorly as a screening and diagnostic test for EA/TEF. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
食管闭锁和/或气管食管瘘（EA/TEF）仍然是产前最常漏诊的先天性畸形之一。本研究的目的是阐明 EA/TEF 在整个孕期的超声表现。
这是一项对 12 年来在三级中心获得的数据进行的回顾性研究。评估了 EA/TEF 胎儿的产前超声扫描，以确定三个主要征象的存在和发现时间：小/无胃和羊水过多恶化，这两者均被认为是“疑似”EA/TEF，以及食管囊，这被认为是“已发现”EA/TEF。我们评估了早孕期（14-16 周妊娠）、常规中孕期（19-26 周）和晚孕期（≥27 周）异常扫描在 EA/TEF 产前诊断中的检出率。
研究纳入了 75 例有可用超声图像的 EA/TEF 病例。在早期异常扫描中，3.6%的胎儿发现小/无胃，但无法明确诊断。在中孕期扫描中，19.4%的病例被怀疑，4.3%的病例被发现。在晚孕期异常扫描中，43.9%的扫描病例被怀疑，33.9%的病例被发现。一例食管囊在中孕期通过磁共振成像（MRI）发现，另外两例在晚孕期通过 MRI 发现。在我们的队列中，EA/TEF 总共有 44.0%被怀疑，33.3%被发现，10.7%被怀疑但最终在产前未被发现。
在孕晚期之前，超声无法对 EA/TEF 进行产前诊断。小/无胃可能早在 15 周妊娠时就可以看到。羊水过多不会在中孕期前发生。在可疑病例中，食管囊可以在 22 周时通过靶向扫描检测到。随着妊娠的进展，所有三个征象的检出率都增加，在晚孕期达到峰值。早孕期和中孕期异常扫描作为 EA/TEF 的筛查和诊断测试效果不佳。© 2020 年国际妇产科超声学会。
