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Genetic Conditions in Children

Genetic testing may provide helpful information after a child is born

Genetic can provide helpful information after a child is born and there are concerns about the child’s health. Genetic counselors work with families if a newborn, infant or child has one of the following conditions:

  • Developmental delay
  • An autism spectrum disorder
  • Multiple health problems or birth defects, including cleft lip or palate, a heart defect or spina bifida
  • Metabolic disorders, such as PKU or galactosemia
  • Sensory impairments, meaning a problem with vision or hearing
  • Intellectual disability of unknown cause
  • Abnormal physical features
  • Family history of a genetic condition
  • Known or suspected genetic disorder such as Down syndrome, cystic fibrosis or muscular dystrophy
  • Any suspected genetic condition

Pediatric genetic counselors can help families learn more about the genetic link to the child’s condition, and whether testing or other medical services might be beneficial. This information can help the family determine if other or future children might be at risk for the condition. It also can help guide treatment and management of the condition.


To learn more about how a pediatric genetic counselor will work with you and your family, watch this video that shows a simulated pediatric genetic counseling session.

This video was created by the National Society of Genetic Counselors as part of a Master Genetic Counseling Series and was made possible through the generous support of the Jane Engelberg Memorial Fellowship.


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