Pediatric Genetics

Approximately three percent of all living newborns have a birth defect or health problem. These conditions may be evident shortly after birth or later in the child's life.

The pediatric genetics program provides service in the diagnosis, treatment and prevention of birth defects, structural abnormalities, inherited diseases, chromosomal abnormalities and mental retardation. Pediatric genetics also cares for children with biochemical genetic disorders, inborn errors of metabolism and metabolic defects.

Services include an evaluation to identify genetic diseases, chromosomal analysis, amniocentesis for prenatal diagnosis, molecular and DNA diagnostics, genetic counseling. Children who are not reaching developmental milestones or have characteristics of a genetic condition

Referrals are made to pediatric genetic testing for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature and many others.

Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome and Williams syndrome.

Potential reasons for pediatric genetic evaluation include a child with a:

  • Birth defect, or suspected birth defect
  • Suspected or diagnosed genetic syndrome
  • Chromosomal syndrome
  • Metabolic disorder
  • Developmental delay
  • Family history of a genetic condition

Health Information