Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011

Abstract

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.

Population‐based birth defects data in the United States, 2012–2016: A focus on abdominal wall defects

“…Our results support the findings of Marshall et al (2015), who reported an increase in omphalocele in infants of older mothers. Finally, our comparison of cooccurring birth defects by organ system supports previous research showing a higher prevalence of co-occurring defects for omphalocele cases compared to gastroschisis, with cardiovascular defects and chromosomal defects showing a particularly large difference between the two abdominal wall defects (Feldkamp et al, 2016;Stoll et al, 2008).…”

“…Omphalocele prevalence estimates are roughly one-half those of gastroschisis, but the omphalocele prevalence may be underestimated due to the higher proportion of fetal deaths and terminations of omphalocele cases compared to gastroschisis (Akhtar et al, 2012;Brantberg et al, 2004;Kuleva et al, 2012;Perry et al, 2017;Springett et al, 2014). In addition, infants with omphalocele are more likely to be early preterm deliveries and have very low birth weights compared to infants with gastroschisis (Anderson et al, 2018;Bugge et al, 2017;Feldkamp et al, 2016;Marshall et al, 2015). Despite the increase in prevalence of gastroschisis that has been well-documented in the literature, it is clear that omphalocele also presents a large burden for families and the healthcare system.…”

“…Gastroschisis prevalence has not been shown to differ significantly by infant sex (Kirby et al, ), however, infants with gastroschisis are more likely to be preterm and low/very low birth weight (Anderson et al, ; Boutros, Regier, Skarsgard, & Canadian Pediatric Surgery Network, ; Bugge et al, ). Unlike other abdominal wall defects, gastroschisis usually occurs without other birth defects or chromosomal anomalies (Feldkamp, Botto, Byrne, Krikov, & Carey, ; Stoll, Alembik, Dott, & Roth, ). Gastroschisis has a low rate of fetal deaths and terminations compared to other major birth defects, the prognosis continues to improve with advances in prenatal monitoring, and the one‐year survival rate is currently 94% (Adair et al, ; Akhtar, Skarsgard, & Canadian Pediatric Surgery Network, ; Brantberg, Blaas, Salvesen, Haugen, & Eik‐Nes, ; Kuleva, Salomon, Benoist, Ville, & Dumez, ; Perry et al, ; South, Stutey, & Meinzen‐Derr, ; Tennant, Pearce, Bythell, & Rankin, ).…”

Shared genomic segments in high‐risk multigenerational pedigrees with gastroschisis

“…Gastroschisis appears to be an abnormality of the rudimentary umbilical ring at the amnio‐ectodermal junction in which bowel and often other organs are prolapsed outside of the body (Opitz, Feldkamp, & Botto, ; Rittler, Vauthay, & Mazzitelli, ) leading to severe fetal and postnatal intestinal damage. Despite considerable research, the etiology and pathogenesis of gastroschisis are poorly understood (Castilla, Mastroiacovo, & Orioli, ; Feldkamp, Botto, Byrne, Krikov, & Carey, ). Infants with gastroschisis face considerable risk of prematurity and infant death and those who survive often have long‐term complications and disabilities that are complex and costly (Nichol, Byrne, Dodgion, & Saijoh, ).…”

Quality of life in patients with gastroschisis is comparable with the general population: A questionnaire survey

“…The survival rate of neonates with gastroschisis is currently over 95% (ref. 1 ). Nowadays, our attention is not focused only on mere survival, but also on the long term results of the treatment and the quality of life of the survivors.…”