3 doctors weighed in:
If I have an arnold chiari malformation, should I get genetic testing to check for other things?
3 doctors weighed in

Dr. Golder Wilson
Clinical Genetics
1 doctor agrees
In brief: Perhaps
If you have other birth defects (chiari can be secondary to spina bifida or be a part of syndromes), then chromosome testing may be indicated.
Many chiari malformations occur alone, in which case genetic testing is not necessary. As genome sequencing becomes more rapid and available, genes conferring susceptibility to chiari and other isolated birth defects may become available for testing.

In brief: Perhaps
If you have other birth defects (chiari can be secondary to spina bifida or be a part of syndromes), then chromosome testing may be indicated.
Many chiari malformations occur alone, in which case genetic testing is not necessary. As genome sequencing becomes more rapid and available, genes conferring susceptibility to chiari and other isolated birth defects may become available for testing.
Dr. Golder Wilson
Dr. Golder Wilson
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Dr. William Goldie
Pediatrics - Neurology
In brief: Probably not
The arnold chiari malformation is associated with spina bifida and brain malformations.
These are either obvious on exam or not present. Genetic testing does not help. Bowel and bladder dysfunction is common as is scoliosis and hip problems. These should be part of usual and appropriate evaluation. Complications with hydrocephalus and risk for seizures should also be checked out.

In brief: Probably not
The arnold chiari malformation is associated with spina bifida and brain malformations.
These are either obvious on exam or not present. Genetic testing does not help. Bowel and bladder dysfunction is common as is scoliosis and hip problems. These should be part of usual and appropriate evaluation. Complications with hydrocephalus and risk for seizures should also be checked out.
Dr. William Goldie
Dr. William Goldie
Thank
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