Brief clinical and laboratory observation

The VATER association: -Vertebral defects, -Anal atresia, -T-Efistula with esophageal atresia, -Radial and -Renal dysplasia: A spectrum of associated defects**

This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.

A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year.

Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression.

Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI₉₅{9–20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0–4.26), having a visible perineal opening (OR 2.63; 1.21–5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47–141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram.

There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted.

II (Prospective Cohort Study <80% follow-up).

In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period.

A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions.

In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000–2006 vs. 82% in 2007–2013 vs. 86% in 2014–2020). Median age at follow-up was 7.0 years (IQR 3.0–12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found.

The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening.

III.

Neonatal spine deformities encompass a wide breadth of pathologies. A working knowledge of spinal development, physical examination, and imaging findings help the savvy neonatal provider make an assessment of an abnormal spine. Although the technical management for spine deformity is ultimately under the purview of surgical specialists, the medical team plays an integral role in the overall health of the patient. The high association of multiple medical comorbidities with spine deformities makes surgical treatment challenging. A multidisciplinary approach is essential in the management of these multifaceted deformities.

This chapter provides a compact, yet comprehensive overview of hereditary and acquired pathologic conditions of the esophagus, stomach, small and large intestine and vermiform appendix. It is intended to serve both as an introduction to the trainee and as a quick reference to the practicing pathologist. High-yield topics include infectious diseases of the gastrointestinal tract, dysplasia in Barrett's esophagus, classification of gastritis, early gastric neoplasia, inflammatory bowel disease, and polyposis syndromes. All efforts have been made to keep the information up-to-date, succinct and practical. Regional differences in terminology and application of histologic criteria may occur.