SGD on Imperforate Anus

a. Definition/Short description

An imperforate anus is a stricture or the absence of the anus (Gourlay, 2013). In week 7
of intrauterine life, the upper bowel elongates to pouch and combine with a pouch invaginating
from the perineum. These two sections of bowel meet, the membranes between them are
absorbed, and the bowel is then patent to the outside. If this motion toward each other does
not occur or if the membrane between the two surfaces does not dissolve, an imperforate anus
occurs. The disorder can be relatively minor, requiring just surgical incision of the persistent
membrane, or much more severe, involving sections of the bowel that are many inches apart
with no anus. There may be an accompanying fistula to the bladder in boys and to the vagina in
girls, further complicating a surgical repair. The problem occurs in approximately 1 in 5,000 live
births, more commonly in boys than in girls. It may occur as an additional complication of spinal
cord disorders, because both the external anal canal and the spinal cord arise from the same
germ tissue layer.

Imperforate anus or anal atresia is a congenital anorectal malformation (ARM) where a

normal anal opening is absent at birth. ARMs comprise of a broad spectrum of defects ranging
from minor (e.g., membranous covering) to complex cloacal malformations involving the
urinary and genital tracts as well. Thus prognosis may vary greatly. ARMs commonly have
associated maldevelopment of the pelvic muscles, including the external anal sphincter and
nerves. About half of patients with ARM also have anomalies of other organ systems. These
most commonly involve genitourinary and musculoskeletal systems. Delayed diagnosis may
happen in one out of five neonates, despite routine postpartum evaluation. Such a delay may
increase morbidity and mortality.

b. Risk Factors/Causes/Etiology

Although the precise embryologic defect that causes anorectal malformations has not
been determined, cloacal membrane formation and subsequent breakdown into urogenital and
anal openings should occur by 8 weeks gestation. Defects in the formation or shape of the
posterior urorectal septum account for many of the described abnormalities of imperforate
anus. Müllerian ducts appear after this critical period; how they are incorporated into this
development is unclear.
No known risk factors predispose a person to have a child with imperforate anus, which
should be clearly emphasized to parents of affected children who may harbor feelings of guilt. A
genetic linkage is sometimes present. Most cases of imperforate anus are sporadic without a
family history of the condition, but some families have several children with malformations.
Genetic studies are ongoing.
While a specific cause of anorectal malformations is not known, it is very likely that
genetic factors play a role in their development. The incidence of having a second child with an
anorectal malformation is approximately one percent. There are several genetic syndromes
with an increased incidence of anorectal malformations such as the Currarino triad which
exhibits autosomal dominant inheritance, and patients with trisomy 21 have a known
association with anorectal malformation without fistula. Approximately 95% of patients with
trisomy 21 have anorectal malformation without fistula compared to only 5% of all patients
with anorectal malformations. There is also some data to suggest environmental factor
exposures may be related to the development of anorectal malformations such as in vitro
fertilization, thalidomide exposure, and diabetes. Animal models have also shown exposure to
trans-retinoic acid, and ethylene thiourea correlates with anorectal malformations.
c. Incidence (Global, National & Local)

Global
Imperforate anus has an incidence estimated to be 1 in 5000 births in the U.S. Males
have a slightly higher incidence than females. Rectourethral fistula is the most common defect
in males and rectovestibular fistula in females.

Anorectal malformations occur approximately in 1 in every 5000 live births. They are
slightly more common in males (1.2 to 1). The majority of male patients with an anorectal
malformation have some form of connection to the urinary system, or a recto-urethral fistula
(approximately 70% of this patient population). The most common type of anorectal
malformation in female patients is a recto-vestibular fistula.

d. Manifestations/Signs and symptoms

The signs of imperforate anus are usually obvious soon after birth. They include:
 no anal opening
 an anal opening in the wrong place, such as too close to the vagina
 no stool in the first 24 to 48 hours of life
 stool passing through the wrong place, such as the urethra, vagina, scrotum, or the base
of the penis
 a swollen abdomen
 an abnormal connection, or fistula, between your baby’s rectum and their reproductive
system or urinary tract

e. Laboratory & Diagnostic Procedures

Diagnostic evaluation of these patients should focus on delineating the level and
complexity of anorectal malformation and identification of any associated defects. These
patients have a high incidence of associated genitourinary and musculoskeletal (usually
sacral) malformations, especially if a high anorectal malformation is present. Evaluation of
vertebral and spinal cord defects is essential. The approach to these patients involves an
interprofessional team, including pediatricians, neonatologists, pediatric surgery, and pediatric
urology. 
 Ultrasound of abdomen and pelvis is a valuable screening modality for the diagnosis of
associated gastrointestinal and genitourinary anomalies and should take place early.
Ultrasound of the perineum helps estimate the distance between the rectal pouch and the
perineum. 
Once abdominal distension has developed, a lateral film radiograph in prone position
should be done to determine the location of the distal bowel air bubble from the anal dimple
(marked by the placement of a lead marker). A distance of less than 1 cm usually indicates a low
defect, and greater than 1 cm distance may indicate a high defect. Traditionally, invertogram
(i.e., radiograph with infant held upside down) has been used to indicate this pouch-perineum
distance. But the baby is usually uncomfortable in this position, and incessant crying may lead
to contraction of puborectalis sling and obscuration of the distal rectal pouch. For this reason, a
prone cross-lateral view is now preferable to an invertogram. Invertogram has been shown to
be highly inaccurate for assessment of pouch position.
A plain radiograph of the entire spine, including the sacrum and both iliac wing, should
be done to detect vertebral anomalies and sacrum adequacy. X-rays of the extremities are
necessary if there are abnormal findings on the physical exam. Evaluation of any associated
cardiac defects should take place with an echocardiogram. 
In an infant where diverting colostomy has occurred for complex ARM (esp. cloaca), a
contrast study of distal colon (distal colostography) is beneficial in identifying the real height of
the distal rectal pouch and its fistulous connection. It needs an injection of water-soluble
contrast via distal mucous fistula under pressure. If there is a connection to the urinary bladder,
a voiding cystourethrogram may be done at the same time to delineate the anatomy of the
urinary bladder and any associated vesicoureteric reflux. Experienced hands should perform
this procedure; there have been reports of bowel perforation as a complication. Although very
accurate in determining the location of the rectal pouch and fistula, the distal colostogram does
not provide any information regarding the anatomy of pelvic musculature.     
An MRI of the pelvis is beneficial for delineating the anatomy of pelvic floor muscles, the
location of the rectal pouch, and any fistula. Recent advances in MRI imaging have allowed
high-resolution imaging of pelvic structures. These findings may significantly influence the
planned surgical approach. MRI may also serve to evaluate for a tethered cord or abnormal
attachment of the spinal cord to the vertebrate, as well as for the assessment of anatomical
development after surgical correction of ARM.

The condition may be detected by a prenatal sonogram. It is discovered at birth when

inspection of a newborn’s anal region reveals no anus, a membrane fi lled with black meconium
protrudes from the anus, or if it is impossible to insert a rubber catheter into the rectum. A
“wink” reflex (touching the skin near the rectum should make the anus contract) cannot be
elicited if sensory nerve endings in the rectum are not intact. Even with all these methods,
some instances of the stricture will not be detected at birth because the anus appears as usual
and the stricture exists so far inside that it can’t be seen. By 24 hours, no stool will be passed,
and abdominal distention will become evident. An X-ray or sonogram will reveal the disorder if
the infant is held in a slightly head-down position to allow swallowed air to rise to the end of
the blind pouch of the bowel. This method is also helpful to estimate the distance the intestine
is separated from the perineum or the extent of the correction that will be necessary.

f. Management (Pharmacologic, Medical, Surgical (if indicated), and Nursing Management

Pharmacologic
The degree of difficulty in repairing an imperforate anus depends on the extent of the
problem. If the rectum ends close to the perineum (at or below the level of the levator ani
muscle) and the anal sphincter is formed, repair involves simple laparoscopy with anastomosis
of the separated bowel segments (Bischoff, Levitt, & Peña, 2011). A repair becomes
complicated if the end of the rectum is at a distance from the perineum (above the levator ani
muscle), the anal sphincter exists only in an underdeveloped form, or a fistula to the bladder or
vagina is present. If the repair is estimated to be extensive, the child may be given a temporary
colostomy and the final repair performed when the infant is somewhat older (6 to 12 months).

Medical
Newborns with imperforate anus should not be fed and should receive intravenous
hydration. Life-threatening comorbidities take precedence and must be treated first. If a urinary
fistula is suspected, broad-spectrum antibiotics can be administered, although anaerobic
coverage is unnecessary within the first 48 hours of life. Any cardiac murmurs identified upon
physical examination should be evaluated using echocardiography prior to surgical intervention.
The remainder of treatment includes diagnostics and surgical evaluation and management.

Surgical
The patient may need to undergo a diverting colostomy or surgical repair. This decision has its
basis on the complexity of anorectal malformation, associated anomalies, and any metabolic
abnormalities developing soon after birth. Generally speaking, a low lying simple ARM may
undergo primary anoplasty, and a high or complex malformation would need initial diverting
colostomy followed by definitive surgical repair 4 to 8 weeks later.
When a diverting colostomy is necessary, a descending or sigmoid colostomy is preferred and
brought out through the left lower quadrant of the abdomen. Performance of colostomy results
in diversion of stool stream and allows for delayed repair as the urgent concern of bowel
obstruction and/or sepsis from fistula has been addressed. It also provides for a more accurate
diagnosis of the level of the rectal pouch as a contrast pouchogram is not possible through the
distal limb of colostomy. 
Posterior sagittal anorectoplasty (PSARP) is currently the gold standard procedure for the
repair of most ARMs. Pena et al. described PSARP. This procedure involves repair of ARM by
perineal approach, although, for higher defects, mobilization of the distal rectal pouch may be
necessary, via the abdominal route. A strict midline incision from the sacrum to the anal dimple
spares neurovascular structures while dividing skin and underlying muscular structures. Further
technical details are outside the scope of this chapter and are available through the provided
reference. It may be done in 1 stage (without colostomy) or three stages (colostomy, PSARP,
and colostomy closure). In newborns who underwent diverting colostomy, the definitive repair
is done after 4 to 8 weeks if the newborn has been growing well with proper nutrition and the
absence of sepsis. One stage repair is possible by experienced hands in patients with low
anomalies and selected high anomalies. These procedures require an experienced surgeon in
high volume facilities for the best result.
Immediate postoperative care usually deals with pain control and need to keep a urinary
catheter (Foley or suprapubic) in some patients undergoing genitourinary repair. After two
weeks of repair, patients need to undergo anal dilation to avoid stricture at the level of the skin.
Over the subsequent 6 to 12 months, once achieving adequate dilation and skin stricture has
not developed, it is possible to close the colostomy. Patients usually struggle with perineal skin
maceration and diaper rash after colostomy closure as the skin gets exposed to multiple bowel
movements for the first time. Education of parents regarding anal dilations and management of
diaper rash is vital to obtain good results. It takes a few months for patients to achieve a stable
pattern of bowel movements.
Nursing
The nursing management for a patient with Imperforated Anus has a main focus, that
after the diagnosis as nurses we must be able to prepare the new-born and parent for surgery
and providing perioperative care (Susan Scott Ricci, 2009).
This will include a keen neonatal assessment being performed to adequately understand
the neonatal’s status, most importantly assessing for passage of meconium stool within 24-36
hours following birth.
In the preoperative phase the nurse will maintain the newborn’s NPO status and provide
gastric decompression. Administer IV therapy and antibiotic and continued monitoring of then
new-borns hydration status.
Another major responsibility is providing patient education to the parents so they may
be able to better understand the surgery and all the benefits and complications that can occur
and long term care need which means a complete psychosocial assessment of parents as well.
g. Prognosis
All patients who have an anorectal malformation with no significant life-threatening
comorbidity should survive. Therefore, prognosis is best determined based on the probability of
primary fecal continence.
Continence, defined as voluntary bowel movements with minimal soiling, varies based
on primary and associated malformations. A tethered spinal cord or another spinal
malformation, such as hemivertebrae or spinal dysraphism, may significantly increase the risk
of incontinence.
Surgical complications worsen the chances for primary continence, although this effect
is difficult to quantify. Reoperation significantly decreases the opportunity for primarily
continence.
 All children with a perineal fistula should be continent. Spinal malformations are
exceedingly rare in this group.
Approximately 90% of girls with a vestibular fistula have voluntary bowel movements.  
Approximately 80% of boys with a bulbar urethral fistula have voluntary bowel
movements, whereas 66% of boys with prostatic urethral fistula have voluntary bowel
movements. Only 15% of boys with bladder-neck fistulas have voluntary bowel movements.
Children with imperforate anus without fistula have a 76% chance of having voluntary
bowel movements.
The chance of fecal and urinary continence in girls with cloaca varies based on the
length of the common channel. Girls with a short common channel and no associated urological
or spinal malformations can have excellent results, with as many as 75% of girls developing
voluntary bowel movements. Urinary or fecal continence is very unlikely in girls with long–
common-channel cloacae, sacral malformations, and a tethered spinal cord.  

The prognosis for patients with an anorectal malformation is related to long term
potential for bowel control, or the ability to be continent. The three factors that can help
predict continence are the type of anorectal malformation, the sacral ratio, and the spinal cord
quality. The further the fistula is from the normal anatomic location, the less the chance of
continence for the child as they grow older. A low sacral ratio can also be indicative of
decreased continence. Spinal issues, such as tethered cord, if present, are also a negative
prognostic indicator for continence. However, despite these predictors being present, a child
with these prognostic factors can still be clean and socially continent with an appropriate bowel
management program and specialty care.

References
 Singh, M., & Mehra, K. (2021, August 30). Imperforate Anus. Nih.gov; StatPearls
Publishing. https://www.ncbi.nlm.nih.gov/books/NBK549784/
 ‌Pietrangelo, A. (2012, July 27). Imperforate Anus. Healthline; Healthline Media.
https://www.healthline.com/health/imperforate-anus
 ‌Rosen, N. G. (2021, June 26). Pediatric Imperforate Anus (Anorectal Malformation)
Treatment & Management: Approach Considerations, Medical Care, Surgical Care.
Medscape.com; Medscape. https://emedicine.medscape.com/article/929904-
treatment#d5
 ‌Smith, C. A., & Avansino, J. (2021, August 12). Anorectal Malformations. Nih.gov;
StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK542275/
 ‌Rosen, N. G. (2021, June 26). Pediatric Imperforate Anus (Anorectal Malformation):
Background, Pathophysiology, Etiology. Medscape.com; Medscape.
https://emedicine.medscape.com/article/929904-overview#a2

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Nursing Care Plan

Nursing Diagnosis

 Impaired skin integrity at rectum related to surgical incision as evidenced by

disruption of skin, presence of erythema and drains

Nursing Goal
 After 1 to 2 days of rendering appropriate nursing interventions, the client’s
incision line will be free of erythema and drainage until it heals after surgery.

Nursing Inference
 If a rectal repair was completed, a fresh suture line will be present at the rectum.
A patient’s skin integrity will be compromised while recovering from recent
surgery due to incisions, hence, impaired skin integrity .

Nursing Interventions
Nursing Interventions Rationale
Independent Nursing Interventions
Change dressings as needed using aseptic To reduce skin irritation and potential
technique for infection.
Encourage side-lying position with the head Promotes drainage from perineal
elevated.  wound/drains, reducing the risk of
pooling. Do not place the infant on the
abdomen because, in this position,
newborns tend to pull their knees under
them, causing tension in the perineal
area and the suture line.
Irrigate wound as indicated, using normal May be required to treat preoperative
saline (NS). inflammation and/or infection or
 intraoperative contamination.
Place diaper under, not on the infant. May be helpful so bowel movements
can be cleansed away as soon as they
occur.
If infants are to be discharged with a To enhance the medication adherence.
prescription for a daily stool softener, be
certain parents understand how important it
is to give this and have a plan for
remembering the correct times and dosage.
Dependent Nursing Interventions
Administer a stool softener as prescribed To keep stool from becoming hard and
by the physician. tearing the healing suture line.

Administer antibiotics as ordered. Wound infections may be managed well

and more efficiently with topical agents.

Nursing Evaluation
 After 2 days of rendering appropriate nursing interventions, the client’s incision
line became free of erythema or drainage until it healed after surgery.