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

Abstract

Background/Objectives: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data from 30 population-based birth defect surveillance programs in the United States. Methods: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012–2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. Results: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI:4.1–4.4) for gastroschisis and 2.1 (95% CI: 2.0–2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co-occur with other birth defects. Conclusions: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co-occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects.

A multi‐country study of prevalence and early childhood mortality among children with omphalocele

“…Our prevalence estimate of 2.6 per 10,000 births is consistent with the published literature which reports prevalence estimates that range from 2.1 to 3.8 per 10,000 for studies conducted in the US, UK, and Australia (Byron-Scott et al, 1998;Goldkrand et al, 2004;Salihu et al, 2003;Springett et al, 2014;Stallings et al, 2019). Our live birth prevalence of 1.6 per 10,000 births is also consistent with previous reports (1.3 to 1.92 per 10,000 live births) (Byron-Scott et al, 1998;Kirby, 2017;Marshall et al, 2015;Salihu et al, 2003;Springett et al, 2014).…”

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele

“…Given the known association between young maternal age and gastroschisis (Allman et al, 2016; Henrich et al, 2008; Stallings et al, 2019), we also conducted a post‐hoc sensitivity analysis among the subgroup of cases with gastroschisis and mothers <20 years old; results were similar to those from the main analysis (data not shown), though fewer combinations could be assessed among this subgroup due to small numbers.…”

“…Given the known association between young maternal age and gastroschisis (Allman et al, 2016;Henrich et al, 2008;Stallings et al, 2019), we also conducted a post-hoc sensitivity analysis among the subgroup of cases with gastroschisis and mothers <20 years old;…”

“…There is some debate, however, that gastroschisis is instead a primary midline malformation of the umbilical ring rather than abdomen; with a protrusion through the umbilical ring, to the right of the cord with no involvement of the abdominal wall (Lubinsky, 2019; Opitz et al, 2019). Globally, the prevalence of gastroschisis and omphalocele are around 1–4 and 2–3 per 10,000 live births, respectively, and there is a great deal of evidence suggesting that the prevalence of gastroschisis has increased in recent years, particularly among mothers <20 years old (Allman et al, 2016; Calzolari, Bianchi, Dolk, & Milan, 1995; Henrich, Huemmer, Reingruber, & Weber, 2008; Hwang & Kousseff, 2004; Ledbetter, 2006; Parker et al, 2010; Stallings et al, 2019; Stoll et al, 2008). Gastroschisis and omphalocele are both associated with increased infant mortality (3–10% for gastroschisis and 12–29% for omphalocele) and both require surgery soon after delivery (Bradnock et al, 2011; Henrich et al, 2008; Ledbetter, 2006).…”

Relationship between volume and outcome for gastroschisis: a systematic review protocol

“…Gastroschisis is a congenital anomaly with an incidence that increased during the last decades up to 2.7 to 4.9 cases per 10,000 live births based on current population studies [ 1 – 4 ]. It is characterized by a full-thickness defect in the abdominal wall, usually located to the right of the umbilical cord, which leads to extrusion of intestines or other organs into the amniotic fluid [ 5 , 6 ].…”