Hunter Alasdair G W, Stevenson Roger E
Pediatrics at University of Ottawa.
Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):219-30. doi: 10.1002/ajmg.c.30178.
Gastroschisis is a major malformation which requires immediate surgical care to return the exposed viscera to the abdominal cavity, parenteral nutrition until bowel motility permits oral feedings, and evaluation for coexisting malformations. Almost all cases are diagnosed prenatally using midtrimester ultrasound and maternal serum alphafetoprotein measurement. This allows most infants to be delivered in a tertiary care facility where the best mode of delivery and neonatal management can be determined. About 10% of infants with gastroschisis will have other malformations. Half of these are considered related to the gastroschisis (intestinal atresia or stenosis, malrotation, cryptorchidism, amyoplasia, urinary tract obstruction). Other associated malformations occur which are not recognized to be secondary to the gastroschisis. Prominent among these are cardiac and limb defects. Fetal and neonatal mortality are increased, but neither appear related to lethal malformations.
腹裂是一种严重的畸形，需要立即进行手术治疗，将外露的内脏回纳至腹腔，在肠道恢复蠕动允许经口喂养前给予肠外营养，并评估是否存在合并畸形。几乎所有病例都是在孕中期通过超声检查和测定母血清甲胎蛋白进行产前诊断的。这使得大多数婴儿能够在三级医疗机构分娩，从而确定最佳的分娩方式和新生儿管理方案。约10%的腹裂婴儿会有其他畸形。其中一半被认为与腹裂有关（肠道闭锁或狭窄、肠旋转不良、隐睾、肌发育不全、泌尿道梗阻）。还会出现其他未被认为是腹裂继发的相关畸形。其中最突出的是心脏和肢体缺陷。胎儿和新生儿死亡率会升高，但两者似乎都与致死性畸形无关。
