Brantberg A, Blaas H-G K, Haugen S E, Eik-Nes S H
National Center for Fetal Medicine, Department of Obstetrics and Gynecology, St. Olav's Hospital, Trondheim University Hospital, Norwegian University of Science and Technology, Trondheim, Norway.
Ultrasound Obstet Gynecol. 2007 Aug;30(2):180-7. doi: 10.1002/uog.4056.
Prenatal diagnosis of esophageal obstruction is believed to improve the outcome for the affected newborn. However, the prenatal detection rate is only 10-40%, the diagnosis is usually not made before the third trimester and the false-positive rate has been high. This study investigated the prenatal detection rate and time of prenatal diagnosis at our center and its influence on outcome. In addition, incidence, detection rate and accuracy of the diagnosis in a large non-selected population were determined.
All cases diagnosed pre- or postnatally with esophageal obstruction and examined prenatally by ultrasound at the National Center for Fetal Medicine in Norway during 1987-2004 were evaluated.
Of 48 cases with esophageal obstruction, 21 (44%) were diagnosed prenatally (median, 32 + 0 weeks). All 21 had a small or empty stomach, 20/21 (95%) had polyhydramnios and 9/21 (43%) had a visible esophageal pouch. Associated anomalies were present in 38/48 cases (79%). The karyotype was abnormal in 11/48 cases (23%). Ten (21%) pregnancies with lethal fetal conditions were terminated. Two fetuses died in utero. Ten infants with associated anomalies died within 3 months after birth. The 26/48 (54%) survivors included 16/21 cases with a prenatal diagnosis of esophageal obstruction and 9/10 cases with isolated esophageal obstruction.
The clinical signs of polyhydramnios were the most important factors for prenatal detection of esophageal obstruction. Consequently, the time of diagnosis was late and the detection rate was low (44%). An increased awareness of the possibility of esophageal obstruction, leading to targeted examinations whenever the suspicion is raised during pregnancy, might improve the prenatal detection rate and thereby provide a possibility to improve the outcome. Of the cases with isolated esophageal obstruction, 90% survived, irrespective of prenatal diagnosis.
产前诊断食管梗阻被认为可改善患病新生儿的预后。然而，产前检出率仅为10% - 40%，通常在孕晚期之前无法做出诊断，且假阳性率一直较高。本研究调查了我们中心的产前检出率、产前诊断时间及其对预后的影响。此外，还确定了在一个未经过筛选的大群体中该诊断的发病率、检出率和准确性。
对1987年至2004年期间在挪威国家胎儿医学中心产前经超声检查、出生前或出生后被诊断为食管梗阻的所有病例进行评估。
在48例食管梗阻病例中，21例（44%）在产前被诊断（中位孕周为32 + 0周）。所有21例均有小胃或胃内空虚，20/21例（95%）有羊水过多，9/21例（43%）可见食管囊袋。48例中有38例（79%）存在相关畸形。48例中有11例（23%）核型异常。10例（21%）患有致死性胎儿疾病的妊娠被终止。2例胎儿死于宫内。10例伴有相关畸形的婴儿在出生后3个月内死亡。48例中的26例（54%）存活者包括21例中16例产前诊断为食管梗阻的病例以及10例中9例孤立性食管梗阻的病例。
羊水过多的临床体征是产前检测食管梗阻的最重要因素。因此，诊断时间较晚且检出率较低（44%）。提高对食管梗阻可能性的认识，在孕期怀疑有食管梗阻时进行针对性检查，可能会提高产前检出率，从而有可能改善预后。在孤立性食管梗阻病例中，90%存活，无论是否产前诊断。
