Clinical Presentation and Survival in a Population-Based Cohort of Infants With Gastroschisis in Utah, 1997-2011

Am J Med Genet A. 2016 Feb;170A(2):306-315. doi: 10.1002/ajmg.a.37437. Epub 2015 Oct 16.


Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5-35% of cases depending on inclusion criteria. This study evaluated the associated malformations, small for gestational age, and survival among a clinically well-characterized population-based gastroschisis cohort, delivered from 1997-2011. We used data from Utah's statewide population-based surveillance system, which monitors major structural birth defects among all pregnancy outcomes (i.e., live births, stillbirths, pregnancy terminations, and miscarriages). Of the initial 387 gastroschisis cases, we excluded 51 (13.2%) for the following reasons: inadequately described or macerated fetuses, part of a specific malformation complex or sequence (limb-body wall complex, amniotic band sequence, or a severe form of abdominoschisis), leaving a study sample of 336 clinically confirmed cases. Gastroschisis was isolated non-syndromic in 284 cases (84.5%). One case was syndromic (trisomy 16; 0.3%) and the remaining 51 (15.2%) were classified as multiple: one unrelated major malformation (27; 52.9%); two or more unrelated major malformation or one major with multiple minor anomalies or mild malformations (6; 11.8%); ≥ one distinctive minor anomaly or mild malformation (13; 25.5%); amyoplasia (5; 1.5%). Of the liveborn infants, 63.3% were preterm (delivered at <37 weeks of gestation) and 21.8% were small for gestational age (SGA). SGA was more common in males (38.8%) than females (16%) (P = 0.008). Overall first year survival was high (95.6%); however, preterm infants with congenital intestinal atresia had the highest mortality (13.8%). The high proportion of isolated cases (84.5%) in gastroschisis is similar to that observed in many other phenotypes and not unique to gastroschisis. Because one in every six infants with gastroschisis had a major unrelated malformation, additional malformations should be sought in every newborn with gastroschisis. Infant mortality was low overall but still a significant concern in affected preterm infants with associated congenital intestinal atresia.

Keywords: SGA; amyoplasia; clinical findings; gastroschisis; isolated; non-isolated; survival.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / mortality*
  • Abnormalities, Multiple / pathology
  • Adult
  • Cohort Studies
  • Female
  • Gastroschisis / epidemiology
  • Gastroschisis / mortality*
  • Gastroschisis / pathology
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Infant, Small for Gestational Age
  • Male
  • Pregnancy
  • Pregnancy Outcome
  • Prognosis
  • Survival Rate
  • Time Factors
  • Utah / epidemiology
  • Young Adult