Associated anomalies in cases with esophageal atresia

Abstract

Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA.

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

“…Further characterization of patients who do not fit VACTERL or a recognized syndrome may reveal distinct subgroups. As pointed out by others (Bogs et al, 2018; Guptha et al, 2019; Stoll et al, 2017), ideally a standardized method of case classification, such as that outlined by the guidelines for the National Birth Defects Prevention study (Rasmussen et al, 2003), should be used when there are multiple birth defects present; we adopted these guidelines in the belief that use of a standard classification would facilitate comparison between studies (see Section 2 and Figure 1). Following these proposed approach (Rasmussen et al, 2003), we grouped the patients into different subcategories (Figure 1), including a category rarely reported in prior TEF/EA studies, teratogenic syndrome.…”

“…There are large series of EA/TEF patients reporting the frequency of associated anomalies (Bogs et al, 2018; Brosens, Ploeg, et al, 2014; Chittmittrapap et al, 1989; de Jong et al, 2008; Guptha et al, 2019; Holder, Cloud, Lewis, & Pilling, 1964; Pedersen et al, 2012). Stoll et al (2017) provided an extensive literature review about the frequency of associated anomalies among the published literature. Rates ranged from 36.8 to 81.9% (Stoll et al, 2017), and nature of associated malformations also differed widely, likely is related to methodological and classification differences, including the depth of phenotypic characterization.…”

“…Stoll et al (2017) provided an extensive literature review about the frequency of associated anomalies among the published literature. Rates ranged from 36.8 to 81.9% (Stoll et al, 2017), and nature of associated malformations also differed widely, likely is related to methodological and classification differences, including the depth of phenotypic characterization. Earlier studies (Chittmittrapap et al, 1989; Holder et al, 1964) clustered all patients with associated anomalies together.…”

“…In one of the largest well‐characterized series, De Jong et al (2008) focused on 90 patients with TEF and VACTERL association, which they defined as having at least three classic defects. Stoll et al (2017) showed the frequency of associated anomalies in 25 patients with EA and nonrecognizable conditions. Bogs et al (2018) studied 158 patients with TEF with VACTERL association or other patterns of malformation, excluding known genetic chromosomal or single gene disorders.…”

“…The rates of birth defects and syndromes associated with the different types vary between studies, likely related to variable definitions and methodologies. Few studies have included an evaluation by a geneticist for every patient (Stoll, Alembik, Dott, & Roth, 2017). Our aim was to investigate EA/TEF in a large and racially diverse cohort of patients, who were homogenously and thoroughly evaluated at a single tertiary pediatric center.…”