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Gastroschisis: Clinical presentation and associations

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 midtrimest...

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Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2008-08, Vol.148C (3), p.219-230
Main Authors: Hunter, Alasdair G.W., Stevenson, Roger E.
Format: Article
Language:English
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Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.30178