A pediatric genetic counselor works with newborns, infants, and children with known or suspected genetic conditions and/or birth defects.
Usually a child will be initially seen by a geneticist (genetics doctor) in addition to the genetic counselor. The geneticist is trained to perform a clinical evaluation and is the one who can actually diagnose your child with a genetic disorder.
There are several reasons why a child might see a pediatric genetic counselor:
To gather information about your child’s genetic condition including recommended medical management and treatments
To discuss available genetic testing options
To review the results of genetic or chromosome testing that has already been done
To receive additional educational and support resources
Examples of conditions for which children might be referred to a pediatric genetic counselor include:
Birth defects (Cleft lip and palate, spina bifida)
Chromosome abnormalities (Down syndrome, Turner syndrome)
Developmental delay or mental retardation of unknown cause
Vision or hearing loss
Di George syndrome
Dwarfism and other skeletal dysplasias