Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.

中文翻译：

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胎儿诊断为食管闭锁的胎儿的遗传诊断和相关异常。

食管闭锁（EA）是一种先天性异常，每10,000例活产中有2.3例发生。由于产前影像学的进步，更容易诊断出EA，但有关产前诊断为EA的胎儿的相关遗传诊断，其他异常以及产后预后的数据却很少。我们从两个学术医疗中心（n= 61）。我们的数据包括在产前影像学检查中被怀疑患有EA的胎儿，这些胎儿在出生后得到确认并至少进行了一项基因检测。在我们的61例患者中，有29例（49％）早产，活着的19％的人在生命的前9年死亡。最常见的先天缺陷是心脏异常（67％）和脊柱异常（50％）。61％的病例被诊断出；最常见的诊断是椎骨缺损，肛门闭锁，心脏异常，气管食管瘘并伴食管闭锁，radial骨或肾发育异常和肢体异常关联（43％，尽管只有12％满足两项标准），21三体性（5％）和CHARGE综合征（5％）。我们的发现表明，大多数具有出生前诊断为EA的胎儿还有一个或多个其他重大异常，需要进行更全面的临床遗传学评估。