Genetic factors that influence development

  • Genetic factors that influence development
    • Genetic mutations and polymorphisms can be inherited or acquired
    • Mutations are rare, whereas polymorphism occurs in greater than 1% population
    • Congenital anomalies (birth defects) occur in 2%-4% of all live born children
    • Malformations are abnormal formation of organs or body parts as a result of abnormal developmental process
    • Intrauterine environment effects the developing fetus
    • Teratogens (agents that cause birth defects) exposures are preventable
      • Pediatrics indications for genetic consultation
        • Family History
          • Family history of hereditary diseases, birth defects, or developmental problems
          • Family history of sudden cardiac death or early-onset cancer
          • Family history of mental illness
        • Medical History
          • Abnormal newborn screen
          • Abnormal genetic test result ordered by a nongenetics professional who lacks the knowledge and experience to discuss the implications of results
          • Excessive bleeding or excessive clotting
          • Progressive neurologic condition
          • Recurrent infection or immunodeficiency
        • Developmental History
          • Behavioral disorders
          • Cognitive impairment or autism
          • Developmental and speech delays or loss of developmental milestones
        • Physical Assessment
          • Major congenital anomaly
          • Minor anomalies and dysmorphic features
          • Growth abnormalities
          • Skeletal abnormalities
          • Visual or hearing problems
          • Metabolic disorder (unusual odor of breath, urine, or stool)
          • Sexual development abnormalities or delayed puberty
          • Skin disorders or abnormalities
        • Parental Requests
          • Parent requests that child be evaluated by a genetics professional
  • Role of a nurse in genetics
    • Obtain family health history (within a minimum of 3 generations)
    • Nurses caring for children need to collect pregnancy, labor and delivery, perinatal, medical, and developmental histories 
    • Recognize developmental delays
    • Learn basic genetic principles 
    • Educate family on information received during genetics visit
    • Assess and address parents feelings of guilt