Journal of Indian Association of Pediatric Surgeons
Journal of Indian Association of Pediatric Surgeons
                                                   Official journal of the Indian Association of Pediatric Surgeons                           
Year : 2021  |  Volume : 26  |  Issue : 3  |  Page : 144--147

Comparison between suction rectal biopsy and full-thickness rectal biopsy in the diagnosis of hirschsprung's disease

Rajeev Redkar, Swathi Chigicherla, Shruti Tewari, Rahul Deo Sharma 
 Department of Paediatric Surgery, Lilavati Hospital and Research Centre, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Rajeev Redkar
Department of Paediatric Surgery, Lilavati Hospital and Research Centre, Bandra West, Mumbai - 400 050, Maharashtra


Aim: The aim of this study is to compare suction rectal biopsy (SRB) with full-thickness rectal biopsy (FTRB) in suspected cases of Hirschsprung's disease (HD). Materials and Methods: Between 2014 and 2018, we enrolled 41 consecutive children with suspected HD. We analyzed demographics, sex, age, clinical symptoms, radiological images, and biopsy reports. All the children had undergone X-ray of the abdomen and pelvis and contrast enema. All of them have undergone both SRB and FTRB, and their results were compared. Results: Out of 41 children, 26 were male and 15 were female. The children were aged from 5 days to 12 years. All of them presented with delayed passage of meconium, abdominal distension, and severe constipation. They all were on oral laxatives. The sensitivity and specificity of SRB are 80.95% and 90.00% when compared to FTRB which has 100% and 100%, respectively. Conclusion: FTRB is the gold standard test for diagnosing HD. SRB may be a good screening test in suspected HD cases. SRB is not as equal and effective as FTRB for diagnosing HD.

How to cite this article:
Redkar R, Chigicherla S, Tewari S, Sharma RD. Comparison between suction rectal biopsy and full-thickness rectal biopsy in the diagnosis of hirschsprung's disease.J Indian Assoc Pediatr Surg 2021;26:144-147

How to cite this URL:
Redkar R, Chigicherla S, Tewari S, Sharma RD. Comparison between suction rectal biopsy and full-thickness rectal biopsy in the diagnosis of hirschsprung's disease. J Indian Assoc Pediatr Surg [serial online] 2021 [cited 2021 Jun 23 ];26:144-147
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Constipation is a common childhood problem, which in its most severe form, can result in significant morbidity. In the new-born, constipation is defined as failure to pass meconium within 24–48 h of life and abdominal distension. In older children, constipation is infrequent passage of hard stools. Constipation accounts for 3% of visits to a general pediatrician's office and 25% of visits to a pediatric gastroenterologist.[1] Ninety-five percent of children with chronic constipation have functional constipation, and only 5% have an organic cause for their symptoms. Only a subset of children with constipation has significant problems, and of this subset, only a small percentage has Hirschsprung's disease (HD).

HD is defined as the absence of ganglion cells in submucosal (Meissner's) and myenteric (Auerbach's) plexuses in distal bowel extending proximally from internal anal sphincter for variable distances that result in obstruction caused by dysmotility of the diseased segment.[2] The incidence of the disease is 1 in 5000 live births.[3] A variety of techniques, including contrast enema (CE), ano-rectal manometry, suction rectal biopsy (SRB), and full-thickness rectal biopsy (FTRB), have been employed to aid in the diagnosis of HD. Obstruction due to meconium ileus, meconium plug syndrome, small left colon syndrome, sepsis, adrenal insufficiency, hypothyroidism, and cerebral injury may all simulate neonatal HD.

Hence, during the neonatal period, a rapid and accurate technique of distinguishing congenital megacolon from other causes of intestinal obstruction is essential. The need for accurate diagnosis is crucial for the appropriate management of HD.

 Materials and Methods

The study included children with:

Large intestinal obstruction with delayed passage of meconium, abdominal distension, and vomitingCE showing transitional zone (TZ)Chronic constipation after excluding medical causes.

The study excluded the children with:

Medical causes of chronic constipation (such as hypothyroidism, anticonvulsant drugs such as valproic acid, phenytoin, and antidepressants such as amitriptyline and iron supplements)Other surgical causes of constipation (anorectal malformation, anal fissure and rectal prolapse, and rectal polyp).

Methodology and technique

Once suspected cases met inclusion criteria, we have proceeded for the rectal biopsy to confirm the diagnosis. We did both suction and full-thickness rectal biopsies in 41 cases. In all cases, we did both the procedures on the same day. SRB was done by the single/same registrar and FTRB was done by the same/single consultant in 41 cases. SRB specimen examined by one pathologist and FTRB specimen examined by another pathologist. Hence, the procedure was blinded. After 5–6 days of the procedure, both the reports were disclosed at the same time. Once both the reports were disclosed, we counseled the parents about further plan of the management, i.e., either for stoma procedure or for conservative management. We did take ethical consents for both the procedures.


Among 41 children, 26 (63.41%) were male and 15 (36.59%) were female. The age of children ranged from neonates (5 days) to late childhood (12 years). The mean age of these children was 37.68 months (0.16–144 months). The minimum and maximum age was 5 days (0.16 months) and 144 months, respectively.

We divided our patients into three groups: Group 1 (below 1 year of age), Group 2 (between 1 and 8 years), and Group 3 (more than 8 years). There were 20 cases (48.78%) below 1 year of age, 18 cases (43.90%) between 1 and 8 years of age, and 3 cases (7.32%) were above 8 years in this study.

Out of 41 children, 24 children (58.54%) had delayed passage of meconium and 17 children (41.46%) did pass meconium within 24–48 h of life. Out of 41 children, 22 children (53.66%) had abdominal distension in the neonatal period and 19 children (46.34%) did not have abdominal distension. All children had chronic constipation who were not able to wean off from laxatives or enemas.

All of them underwent radiological images, X-rays and CEs. Out of 41 children, in 19 children (46.34%), X-rays showed distended bowel loops, multiple air fluid levels, and no gas in the rectum, in 2 children X-rays (4.88%) showed pneumoperitoneum, and in 20 children (48.78%) X-rays showed loaded colon. Of 41 children, 14 (34.15%) children showed TZ and 27 (65.85%) children did not show TZ.

The final diagnosis of HD was made by the absence of ganglion cells in a FTRB. Moreover, also it was confirmed from the operative specimen. When FTRB was negative, those cases were followed. The minimum duration of follow-up of symptom-free period was for 6 months.

Out of 41 cases, 21 were diagnosed with HD and 20 were diagnosed as non-HD. Out of 21 HD cases, FTRB was positive for HD in all cases, whereas SRB was positive for HD in 17 cases. We had 4 false- negative cases. The sensitivity of SRB was 80.95% (confidence interval [CI] 95% 58.09–94.55%). Out of 20 non-HD cases, FTRB was negative for HD in all of them, whereas SRB was negative for HD in 18 cases. Hence, we have 2 false-positive cases. The specificity of SRB was 90% (CI: 68.30-98.77) [Table 1] and [Table 2].{Table 1}{Table 2}


HD presents in a variety of distinct clinical manners. The disease presents early with delayed passage of meconium, abdominal distension, vomiting, and in later life with constipation and or enterocolitis. In 70%–90% of cases, clinical symptoms are present on the 1st day of life.[4] However, the diagnosis of HD in the neonatal period remains a challenge. Enemas and frequent rectal examinations in the constipated infant may delay the diagnosis. The child may be discharged and would have returned later with enterocolitis, constipation, and dehydration. Most patients with HD do not pass meconium spontaneously during the first 24–48 h of life and since this is distinctly abnormal in the otherwise normal term baby. All term babies who fail to pass meconium within 24–48 h of life and with abdominal distension should subjected to rectal biopsy. CE should be done before rectal biopsy to know TZ.

In our study, 41 children with suspected HD were analyzed. SRB and FTRB were done in all 41 children. Among these 41 children, HD was diagnosed in 21 cases and non-HD in 20 cases. Of 21 HD cases, 16 were male and 5 were female children. In our study, the incidence of HD was more in male children compared to female children and the ratio was 3.2:1. Vasavi et al.[5] carried out a prospective study at Niloufer hospital, Hyderabad. The study analyzed 510 patients with suspected HD and reported that 357 cases were HD and 153 cases were other causes of constipation. Out of 357 cases of HD, 223 were male and 74 were female children (male: female ratio 3:1).

Between 1975 and 1982, Barr et al.[6] studied 101 children with suspected HD. All children underwent both SRB and FTRB. There were no false-positive results; however, there were 3 false-negative cases by SRB. Out of three false-negative cases, in 1 case, it was tricyclic antidepressant (TCA), and in two cases, SRB was done in the 1st week of life (immaturity of enzymes). Similar to Barr et al. study, in our study out of 21 HD children, only 17 cases were diagnosed as HD by SRB test. We also had 4 false-negative cases. Of 4 false-negative SRB results, 1 case was diagnosed as TCA and 1 case was allied disorder of HD and in 2 cases SRB was done within or up to 1 month of age. Between 1972 and 1979, Andrassy et al.[7] studied 444 patients with suspected HD. Of 444 patients, 82 were diagnosed as HD by SRB (acetylcholinesterase [AChE] staining). All of them reconfirmed with FTRB (H and E staining) at the time of colostomy. There have been no false-positive or false-negative specimens and no patients have undergone inappropriate pull-through procedures for suspected HD. Swenson et al.[8] reported that FTRB had 98% accuracy, whereas Andrassy et al.[7] reported that SRB had better than 99% accuracy rate. Unlike Richard et al. and Swenson et al., we had only 85% accuracy with SRB compared to 100% accuracy with FTRB. In 2001, Nakao et al.[9] encountered 459 cases (91 neonates) of suspected HD. The specificity of AChE staining was high (100%), but its sensitivity was slightly low (91%). They had 4 false-negative cases (3 HD and 1 case of an allied disorder of HD). In all these cases, SRB was done within 2 weeks of age, however, because of persistent symptoms the biopsy was repeated later which confirmed HD. Of 4 false-negative cases of HD, there was insufficient proliferation of AChE-positive fibers in mucosal layer in three cases and insufficient specimen in 1 case. Between 2000 and 2003, de Lorijn et al.[10] studied 111 consecutive patients with suspected HD. Out of 111 patients, HD was found in 28 and functional constipation was found in 83 patients. In all 28 cases, HD was confirmed by FTRB. SRB positive biopsy results were found in 25 out of 28 children with HD. Two children, both <1 month old, had a false-negative test result for SRB. Although the SRB in these infants showed a normal AChE activity, no ganglion cells could be identified. In 1 child, the SRB result was inconclusive. SRB negative biopsy results were found in 82 of 83 children with functional constipation and in 1 child SRB result was inconclusive. SRB had sensitivity 93% and specificity 100%. SRB produced no false-positive test results.

From 2004 to 2014, Keyzer-Dekker et al.[11] reviewed 183 patients, HD was diagnosed in 55 patients (30%) by SRB in first biopsy. A second biopsy was performed in 12/55 patients (22%), which confirmed HD in nine patients. HD was excluded in the first biopsy in 128 patients (70%) by SRB. HD was eventually diagnosed in 12 out of 128 patients. Thus, the sensitivity of the first SRB was 81% and the specificity was 97%. The positive predictive value was 93%, and the negative predictive value was 91%. They concluded that the overall sensitivity of the SRB was 81%, with 12 false-negative results, in which cases extra biopsies had been necessary. The specificity was 97%, with 4 false-positive findings.

False positive AChE staining[12],[13],[14],[15] (increased numbers of AChE-stained fibers) is more unusual and may be related to:

Inexperience with the techniqueHemorrhagic specimens (due to the high concentrations of AChE in the red blood cell membrane)Severe colitisNeuronal intestinal dysplasia (AChE staining is positive and giant ganglia are seen).

We had 2 false-positive SRB results. The pathologist reported that both the specimens were hemorrhagic in nature. Both had rectal bleeding after SRB procedure.

False-negative AChE staining[14],[16],[17],[18] results have been more frequently reported than false positives. They are related to:

Variability in the biopsy site (correct site is 2 or 3 cm above the muco-cutaneous junction)Biopsy material that is too superficial and does not contain muscularis mucosaThe technical variations in the performance of the stain and the experience of individual pathologists. Technical faults such as a delay in freezing or insufficient incubation solution. Focal increase in AChE activity that may be missed by inexperienced hands.Immaturity of the enzyme system (in neonates)TCA.

In our study, we had 4 false-negative results in SRB. Out of 4 false-negative cases, one was diagnosed as TCA; other was allied disorder of HD; in another two cases, SRB was done within or up to 1 month of age.

There were no false positive and false negative results in FTRB.


SRB may be a good screening test in suspected HD. However, it needs an expert pediatric pathologist to diagnose HD on SRB biopsy specimen. It is inadvisable to take decision for definitive pull through procedure or stoma creation for HD solely based on SRB report. FTRB is the gold standard test for diagnosing HD. At our institute, SRB is inferior and ineffective when compared to FTRB for the diagnosis of HD.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


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