Early Diagnosis of Anorectal Malformations / Imperforate Anus
The Colorectal Center of Cincinnati Children's Hospital Medical Center stresses the importance of early diagnosis of an anorectal malformation / imperforate anus.
Today, we continue to make advances in diagnostic techniques, particularly in the area of prenatal diagnosis.
However, even as we continue our work in this important new area, it is critical to stress that immediate postnatal diagnosis in the form of a perineal inspection is performed on all newborn children.
This diagnosis of an anorectal malformation / imperforate anus is most commonly made in the delivery room on examination of the infant after birth or in the newborn nursery when the nurse attempts to take a rectal temperature and no anus is visible.
Colorectal Center specialists have compiled information about how to manage infants once they've been diagnosed with an anorectal malformation.
Besides the routine nursing examination, the infant with imperforate anus (absent anal opening) should be assessed for the following:
- Abdominal distention
- Vomiting
- Presence of meconium in the perineum of a male infant or in the genitalia of a female infant
- Voiding pattern
- Presence of meconium in the urine of a male baby as detected by filtering the urine through a gauze pad placed at the tip of the penis or by urinalysis
Once the diagnosis of imperforate anus has been established, the goals of care are as follows:
- Provision of general medical support
- Evaluation of potential associated defects that require immediate attention
- Determination of whether the infant needs a temporary colostomy (high defects) or whether the defect can be treated by a minor operation called anoplasty
- Provision of education and emotional support to the parents, including relevant information concerning the diagnosis, tests, treatment, and prognosis
General Support
General support includes administration of antibiotics, keeping the infant NPO (nothing by mouth), insertion of a nasogastric (NG) tube to prevent gastric decompression, administration of vitamin K, administration of intravenous fluids, and strict monitoring of intake and output.
Associated Defects
The most frequently associated defects that require immediate attention are those of the urinary tract. Therefore, every infant with an anorectal malformation / imperforate anus requires an ultrasound examination of the abdomen to detect a urinary obstruction. If the ultrasound examination is abnormal, a more detailed urologic evaluation is indicated.
Other associated defects include those of the gastrointestinal tract, including esophageal atresia and tracheoesophageal fistula and vertebral, cardiac, and skeletal anomalies. All infants should have a cardiac evaluation with echocardiogram before surgery.
The Decision of Colostomy Creation versus Anoplasty
Some minor (low) anorectal malformations can be treated with a one-stage surgical repair called an anoplasty.
However, in infants with high defects, the creation of an intestinal diversion called a colostomy is necessary to decompress the bowel.
The diversion also helps to prevent infection during the postoperative period after the pull-through procedure that must be performed to correct this condition. The decision to perform a colostomy is generally made after 24 hours of observation.
For more information or to request an appointment, please contact the Colorectal Center at Cincinnati Children's.
