Book Reading

Imperforate Anus

Presenter:
Dr. Izza Aliya

Moderator:
dr. Wim T. Pangemanan, Sp.O.G, Subsp. K.Fm

MEDICAL STAFF GROUP OBSTETRIC AND GYNAECOLOGY

SRIWIJAYA UNIVERSITY FACULTY OF MEDICINE
DR. MOHAMMAD HOESIN GENERAL HOSPITAL PALEMBANG
2023
Outline
CONDITION
INCIDENCE
SONOGRAPHIC FINDINGS
DIFFERENTIAL DIAGNOSIS
ANTENATAL NATURAL HISTORY
FETAL INTERVENTION
MANAGEMENT OF PREGNANCY
TREATMENT OF THE NEWBORN
SURGICAL TREATMENT
LONG-TERM OUTCOME
GENETICS AND RECURRENCE RISK
CONDITION
Anomalies of the anus and rectum have usually been explained on the basis of an
arrest of the caudal descent of the urorectal septum toward the cloacal membrane
between 4 and 8 weeks of gestation

At 4 to 6 weeks the cloacal membrane becomes partitioned into the anterior

urogenital sinus and the posterior anorectum by the cranial to caudal growth of
mesoderm-derived urorectal septum.

The mesoderm-derived urorectal septum is composed of the midline Tournex fold

and two lateral Rathke
folds. The lower third of the anal canal is derived from the ectoderm of the analpit
CONDITION
Failure of Rathkefolds to develop results in arrest of the inferior urorectal
septum, resulting in a rectourethral fistula in the male and a persistent
cloaca in the female. This arrest in Rathke folds usually occurs just below the
paramesonephric duct, but a more caudal arrest in Rathke folds could result in
a high rectovaginal fistula in a female. Failure of both Rathke and Tourneaux
folds in males results in rectovesicular fistulas at the bladder neck
Failure of the anal membrane to resorb or incomplete resorption despite
formation
of the anal pit results in rectal atresia or stenosis, respectively.
Defects in mesoderm at the level of the perineal body are
thought to result in perineal fistula
INCIDENCE
• The incidence of imperforate anus is 1 in 5000 livebirths
• Most reports note a male preponderance of between 55% and 65% of
cases
• Imperforate anus has been linked to maternal diabetes mellitus,
thalidomide exposure, ethanol intake, and assisted reproductive
technology
 SONOGRAPHIC FINDINGS
• It is unusual to make a diagnosis of imperforate
anus on a prenatal sonographic examination. In a
series of 69 cases of imperforate anus, only 11
(15.9%) were diagnosed prenatally
• Sanders (1996) has noted that the anus can be seen
in the normal fetus as an echogenic dot on a
transverse view at the level of the genitalia
• Kaponis et al. (2006) have observed, bowel
dilatation in anorectal malformations may be
transient, occurring only during the first trimester
SONOGRAPHIC FINDINGS

• Harris et al. (1987) reviewed sonographic features of 12 cases of

anorectal atresia and found evidence of bowel dilatation in the distal
colon in 5 of the 12 cases
• The earliest reported prenatal diagnosis of imperforate anus is 29
weeks of gestation; however, isolated transient bowel dilation which
proved to be due to anorectal malformation has been observed as early
as 12 weeks of gestation
DIFFERENTIAL
DIAGNOSIS
DIFFERENTIAL
DIAGNOSIS
DIFFERENTIAL
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
• The main differential diagnosis for anorectal atresia includes
colonic atresia, Hirschsprung’s disease, meconium plug
syndrome, distal small-bowel atresia, hydrometrocolpos,
ovarian cyst, obstructive uropathy, megacystic-microcolon
hypoperistalsis syndrome, urachal cyst, and persistent cloaca
• Imperforate anus may also occur as part of the VACTERL
association.When associatedwith esophageal atresia,
increased amniotic fluid volume and an absent stomach
bubble may be noted. Imperforate anus occurs in trisomies
18 and 21
• Recently, MRI has become an important adjunct in the
prenatal diagnosis of complex malformations including
anorectal malformations
ANTENATAL NATURAL HISTORY

• Only a few cases of imperforate anus have been prospectively

diagnosed prenatally
• If isolated, the finding of anorectal atresia should not have any direct
bearing on the outcome of the pregnancy. If seen as part of the
VACTERL association, however, polyhydramnios may appear after 28
weeks of gestation if associated esophageal atresia is present
FETAL INTERVENTION

• There are no fetal interventions indicated for imperforate anus.

MANAGEMENT OF PREGNANCY
• A fetus in which imperforate anus is suspected should undergo a
targeted sonographic examination to rule out associated anomalies.
• In particular, a detailed examination of the genitourinary
tractisindicated because of the possibility of associated renal agenesis,
renal dysplasia, and horseshoe kidney.
• Vaginal delivery should be planned except when standard obstetric
indications suggest cesarean delivery
• Because the child will require immediate postnatal evaluation and
treatment, delivery in a tertiary care center with pediatric radiologists,
surgeons, and dysmorphologists available is advisable
TREATMENT OF THE NEWBORN

• The newborn with imperforate anus should be expeditiously evaluated

to rule out serious potential associated malformations
• The infant should receive nothing orally and should receive
intravenous fluids until the evaluation is complete
• An ultrasound examination or magnetic resonance imaging (MRI)
scan of the spine should also be obtained to exclude a tethered spinal
cord.
SURGICAL TREATMENT

• In cases of intermediate and high levels of imperforate anus, a

diverting colostomy is performed in the first few days of life.
• A loop colostomy or colostomy with mucous fistula will allow an
antegrade contrast study to determine the level of rectourethral fistula.
• Anorectal reconstruction can then be carried out at 4 to 8 weeks of age
LONG-TERM OUTCOME

• The mortality rate associated with imperforate anus is low usually due
to associated cardiac or renal abnormalities
GENETICS AND RECURRENCE RISK

• Imperforate anus occurs in association with a number of syndromes

• Anorectal anomalies may occur as part of a syndrome of multiple
malformations
Key Points
• Incidence is 1 in 5,000 livebirths. Has been linked to maternal diabetes, thalidomide, ethanol, and
assisted reproductive technology.
• Imperforate anus is difficult to diagnose by prenatal sonographic studies.
• Sonographic findings that may be due to imperforate anus include transient bowel dilation in first
trimester, intraluminal calcifications in the colon, and persistent distal bowel dilation later in
gestation.
• Fetal MRI may be an important adjunct to ultrasound examination if anorectal malformation is
suspected.
• 50% of anorectal malformations have associated anomalies of the spine, limbs, genitourinary
system, trachea, esophagus and the heart. Echocardiogram is indicated.
• Associated with many syndromes and chromosome abnormalities. Amniocentesis is indicated for
fetal karyotype.
• Delivery should occur in a tertiary care center with pediatric surgical, radiologic, and genetic
expertise available.
Thank You