OPEN Research Support

Thomas Bjørsum-Meyer
Department of Surgery, Odense University Hospital

Projekt styring
Projekt status    Sampling ongoing
Data indsamlingsdatoer
Start 01.10.2014  
Slut 30.09.2020  

Long-term outcome in patients with anorectal malformations

Short summary

Our primary aim is to assess the outcome in patients 10-30 years after surgery for anorectal malformations and to see if it is related to existing altered anatomy, anorectal function and intestinal passage. It will be accomplish by High resolution Anorectal Manometry (HRAM), anorectal ultrasonography, Magnetic Resonans (MR)-scan and colonic transit time. Furthermore, we will evaluate symptoms and severity hereof from the bowel, urinary tract, genitals and impact on quality of life through relevant questionnaires. 


The primary endpoints is the outcome 10-30 years after surgery for anorectal malformations and to see if it is related to existing altered anatomy, anorectal function and intestinal passage.

The secondary endpoint is to identify symptoms and severity hereof from the bowel, urinary tract, genitals and impact on quality of life through relevant questionnaires.

To obtain the necessary knowledge, the study will be divided in the following subprojects:

1. Evaluation of bowel function and quality of life with relevant questionnaires.

2. Examine anorectal anatomy and function with anal ultrasound, MR-scan of the small pelvis and anal manometry. Overall bowel function is examined with colonic transit time. Screening for urinary problems with urodynamic testing.

Anorectal malformations (ARM) cover a wide spectrum of congenital disorders seen in both sexes and may also involve the urinary tract and genitals. It occurs in 1/2500 of newborns with a slight predominance in boys and 2/3 have accompanying anomalies. ARM develops as an abnormal development of the hindgut which later forms the descending colon, rectum, anus, bladder and urethra. This explains frequent recurrence of accompanying malformations in the urinary tract.

The real reason for the development of ARM is unknown. The etiology is probably multifactorial including both heredity and environment. A chromosomal anomaly is found among 5% of patients with ARM and Trisomy 21 being most common. Possible risk factors are maternal fever in the first trimester, industrial exposure to solvents, paternal smoking, maternal obesity and diabetes.

The classic surgical treatment of intermediate and high ARM was an abdominoperineal pull-through technique. Later, an posterior sagittal anorectalplasty(PSARP) was introduced. PSARP was adapted at Odense University hospital in 1994 and is still the preferred surgical approach. Latest laparoscopic assisted anorectal pull-through (LAARP) has been introduced but has not gain common accept. Functional problems after anal atresi are primary fecal incontinence for high malformations and constipation for low. Treatment is primary medical or dietetic regulation of the bowel and in treatment-resistant cases anal irrigation, appendicostomy and antegrade colonic irrigation. Sometimes a permanent stoma may be needed.

Different imaging techniques and physiological measures have been used to clarify the anatomy and bowel function after surgical correction of ARM. MRI (magnetic resonance imaging) of the pelvis has shown differences in patients with constipation and fecal incontinence after surgery for ARM. MRI provides useful information regarding pelvic musculature, colonic anatomy and other accompanying disorders. Anal ultrasound and manometry are useful to evaluate the anatomy and function of the anal sphincter. Scar tissue formation and defects in the anal sphincter are correlated to pressure in the anal canal and fecal incontinence.

A recent technique to evaluate the anorectal neuromuscular function is High Resolution Anorectal Manometry (HRAM). HRAM has previously proven to be more accurate in displaying anorectal anatomy compared to water-perfused manometry. Colonic transit time provides information about motility disorders and in patients with constipation colonic hypomobility is observed. The colonic transit time can be estimated with radioopaque markes (ROM), colonic scintigraphy (CTS) and wireless motility capsule(WMC). Estimation with WMC is a safe procedure with good patient tolerance and provides no radiation in contrast to ROM and CTS. The participants in our study are children and young adults and we intend to avoid radiation if possible. WMC is not tested in pediatric populations and therefore WMC is only preferred for adults. We intend to use ROM for pediatric participants. 

Description of the cohort

Participants are identified by relevant diagnostic codes Q.42(ICD-10) and 75120/75121(ICD-9).

Criteria for inclusion: patients operated for anorectal malformations at OUH during 1985-2004.

Criteria for exclusion: mental retardation or language problems which makes it impossible to perform examinations.

Data and biological material

Electronic patient charts(Cosmic,e-journal,Onbase): information on demographics, procedures and complications.

Blood samples: hemoglobin, electrolytes, creatinine,

Urine sample: Leukocytes, Nitrite, hemoglobin

Clinical examinations:

  • Lung auscultation, heart auscultation,abdominal examination,rectal exploration
  • 3-D anorectal ultrasound
  • High resolution Anorectal manometry
  • Nervus pudendus conduction velocity
  • Colonic transit time
  • Magnetic Resonans(MR) scan of the lower abdomen and pelvis
  • Uroflowcytometry


  • Gastrointestinal Symptoms
  • Krickenbeck classification, Wexner score, Cleveland Clinic Constipation Score(CCCS)
  • Disease-specific Quality of life
  • Fecal Incontinence Quality of Life(FIQL) score, Internation Index of Erectile function(IIEF), Female Sexual Function Index(FSFI), International Consultation on Incontinence Questionnaire(ICIQ)
  • General Quality of life
  • Adults: EQ-5D-5L
  • Children: Strenghts and Difficulties questionnaire(SDQ)

Collaborating researchers and departments

Department of Surgery, Odense University Hospital

  • PhD-student Thomas Bjørsum-Meyer, MD
  • Professor and Consultant Niels Qvist
  • Professor and Consultant Gunnar Baatrup

Department of Surgery, Aarhus University Hospital

  • Professor and Consultant Peter Christiansen

Department of Pediatrics, Kolding Hospital

  • Consultant Marianne Skytte Jakobsen, PhD