Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications

Abstract

RSB combined with AChE staining is a simple, safe and accurate method for the diagnosis of HD. The risk for RSB-related complications is higher in newborns and infants.

Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung’s disease: results from an international survey

“…Some authors have suggested performing RSB only in newborn infants with neonatal onset of symptoms [35,36], whereas others also advocate this in patients that present later in life [37,38]. A recent systematic review has indicated that the likelihood of RSB-related complications appears to be higher in newborns and young infants compared to older children [12]. In contrast, Keyzer-Dekker et al [39] found that RSB can also be reliably and safely performed in preterm infants, which implies that there is no reason to postpone a RSB in these patients.…”

“…In 2006, Dutch researchers compared the accuracy of different tests for diagnosing HD and showed that RSB stained for acetylcholinesterase is the most accurate test for patients with suspected HD [30]. More recently, another systematic review has revealed that RSB provides in almost 90 % adequate tissue samples for the diagnosis of HD, with mean sensitivity and specificity rates of approximately 97 and 99 %, respectively [12]. On the other hand, it has been reported that RSB identifies HD in patients \39 days of age with a sensitivity of only 50 %, thus frequently leading to inconclusive results with need for additional biopsies [31].…”

“…The majority (85.1 %) of respondents stated that they prefer RSB in the diagnostic work-up of patients with suspected HD, whereas the remaining 14.9 % routinely perform an open full-thickness biopsy under general anesthesia. Interestingly, a recent systematic review [12] Pediatr Surg Int has reported that nearly 7.0 % of all RSBs are also carried out under general anesthesia (mainly due to the patient's age), which in turn has implications for the clinical management. The location of the most proximal biopsy site varied widely, ranging between 1 and 15 cm above the pectinate line and mostly from the proximal rectal wall.…”

“…Although very rare, serious RSB-related complications, such as massive rectal bleeding [9,10] and bowel perforation [11], have been reported, which in turn add a further risk to the patient. Nevertheless, a recent systematic review on RSB has shown that it is a safe and accurate method for the diagnosis of HD [12], but it remains unclear whether these results actually reflect the contemporary surgical practice. Therefore, the purpose of the present study was to evaluate the current usage of RSB as a diagnostic tool for HD, focusing on individual techniques and experiences based on the results from an international survey.…”

Suction Rectal Biopsy is Accurate in Late Preterm Infants with Suspected Hirschsprung Disease

“…[9] A recent systematic review demonstrated an average sensitivity and specificity of SRB of 96.8% and 99.4%, respectively, when compared against full thickness biopsy. [10] Very few studies detailing the accuracy of SRB in preterm infants exist at present. Collectively, these studies noted a high degree of sensitivity and specificity of SRB for HD, but many of the patients underwent their biopsies close or after 40 week gestational age.…”