Anorectal malformations (ARM) occur during the first trimester of fetal development. This malformation involves the anus and the portion of the large bowel near the anus, and these structures do not develop normally. When an ARM affects a girl, she is also at risk for having gynecologic and kidney abnormalities.
If your daughter has an ARM, then she should be evaluated for a gynecological abnormality before adolescence. For example, your child may have two uteri or may be missing a uterus or vagina. If your child has no vagina, there will not be an opening for her menses to exit her body and she will develop problems when she starts her period. If your child has an abnormal uterus, she could have issues with fertility later in her life. Hopefully, the possibility of gynecologic abnormality has already been discussed with you and your daughter from a young age.
In many instances, these abnormalities can be seen by ultrasound when your child is an infant or young child by getting a pelvic ultrasound. If your child has gotten an ultrasound for her kidneys, the entire pelvis may not be imaged and a dedicated pelvic ultrasound would be helpful. Unfortunately the female anatomy can be very small and difficult to image, especially if there are complexities involved. A pelvic ultrasound is the best place to start and can performed at any age to get the first look and see what her anatomy may be. Not seeing her young uterus and ovaries does not mean that everything is normal or abnormal, but the early attempts can help provide some information.
An MRI can also be performed to see female anatomy and most of the time shows better anatomy. However, it is not worth the risk of sedation and can be performed when your child can lie still without sedation. If your child has a MRI for other reasons, then the radiologist may be able to provide some information about her anatomy and reproductive potential. If your child has complex issues and has an ostomy bag, it may be helpful to remove the bag to help see the anatomy. If you can come prepared for this possibility, it can be helpful to get a better look with ultrasound.
When your child is diagnosed with an anorectal malformation, investigation into the complexity of the condition can begin at a young age. She should have imaging of her female anatomy anytime she has a problem, or before puberty.
Contributed by Dr. Kathy J. Helton-Skally and edited by Bessie Ganim, (RT-Nuc Med).