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
