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The vast majority of anorectal malformation diagnoses are 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.
All newborns should have a physical exam focusing on the area surrounding the external genitals and where the anus is normally located. This exam may result in an immediate postnatal diagnosis of an anorectal malformation / imperforate anus.
An infant who is diagnosed with an anorectal malformation / imperforate anus will need a more in-depth examination that may include evaluation of the following:
Once the infant has been diagnosed with an anorectal malformation / imperforate anus, the goals of care are:
The most frequently associated defects of anorectal malformations / imperforate anus that require immediate attention are those of the urinary tract.
Infants with anorectal malformations require an ultrasound examination of the abdomen to detect a urinary obstruction. If the ultrasound examination is abnormal, a more detailed urologic evaluation is indicated.
Associated defects of the digestive tract include an obstruction of the esophagus (tube that carries food and liquids from the throat to the stomach).
Known as esophageal atresia, this condition can also cause leakage from the digestive tract into the lungs, and requires surgical correction so the child can eat.
Children born with anorectal malformations / imperforate anus may also have abnormalities in the bones, particularly the sacrum bone and the lumbosacral spine, and heart.
All infants diagnosed with an anorectal malformation should have a thorough cardiac evaluation with an echocardiogram before undergoing surgery.
An ultrasound of the spine will help to rule out the presence of a condition called tethered cord.
Once an infant has been diagnosed with an anorectal malformations and is being evaluated for treatment, several steps are recommended:
We believe that it is now possible to establish an accurate early diagnosis, which allows us to tell the parents what the future of their child is going to be in terms of bowel control.
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