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
- Neurofibromatosis
- Marfan syndrome
- Osteogenesis Imperfecta
- Di George syndrome
- Dwarfism and other skeletal dysplasias
Helpful Links: