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57 Cards in this Set
- Front
- Back
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3-5% incidence
Leading cause of infant mortality 40-50% of hospital admissions 63% of early fetal loss in pregnancy what's the result? |
Major birth defects/Genetic disorders
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how do genetics play a role in cancer?
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1 in 8 women will be diagnosed with breast CA.
Positive heredity can triple the risk Genetic testing can lead to interventions to reduce risk |
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what are some multifactorial medical diseases?
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Obesity
Psychiatric Disorders Hyperlipidemia Cardiac Disease Clotting Disorders |
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what Is the art of providing information and support to individuals and their families affected with genetic conditions?
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genetic counseling
*Most of the genetic counseling is done by private practitioners! |
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how does nondirective counseling work?
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Present the facts and let the patient/family make the decision
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genetic counseling helps individual/family to comprehend what?
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the medical facts, including the diagnosis, probable course of the disorder and available management;
the alternatives for dealing with the risk of recurrence |
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genetic counseling helps individual/family to appreciate?
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the way heredity contributes to the disorder and the risk of recurrence in specific relatives
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genetic counseling helps individual/family to choose what?
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the course of action which seems to them appropriate in view of their risk, their family goals and their ethical and religious standards and to act in accordance with that decision
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genetic counseling helps individual/family to make the best possible adjustment to?
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the disorder in an affected family member and/or the risk of recurrence of that disorder
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what are the key aspects of genetic counseling?
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Informational
Emotional Reproductive options Ethical considerations |
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what information does the patient need to know?
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Diagnosis
Information about the condition Complications Treatment Etiology Genetics Recurrence risk Prenatal diagnosis |
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what emotional aspects might be encountered?
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Acute grief
Chronic grief Chronic anxiety |
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what are the phases of acute grief?
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Shock
Denial Depression, anger, guilt, etc Acceptance Reorganization |
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Acute grief if unresolved leads to :
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chronic grief
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acute grief if unresolved leads to chronic grief which may lead to ________
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chronic anxiety and to burnout and loss of investment
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how might loss of investment in a child be presented?
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Physical abuse
Psychological and physical neglect Institutional or foster home placement |
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how might loss of investment in a adult be presented?
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Loss of interest in treatment
Loss of effort in lifestyle adjustment Depression |
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what is your role as a practitioner during genetic counseling?
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Assess the emotional state of your patients/families
Provide appropriate emotional support and counseling or refer if unable Intervene in the situation if appropriate |
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what reproductive options can be discussed with the patient?
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Spontaneous Conception
Spontaneous Conception with prenatal diagnosis Preconception genetic testing Donor gametes (sperm or egg) Adoption Postponing pregnancy Termination of fertility |
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what ethics must be considered?
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Disclosure of Results
Intentional Production of Abnormalities Termination of Pregnancy Termination of Fertility Personal Convictions |
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when should ppl get consulted in genetics?
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Infant with one or more birth defects, an unusual appearance, or a chromosome abnormality
Child or adult with unusual appearance, growth or developmental delay, or history of birth defects Family history of birth defects or inherited condition Prenatal test showing abnormalities Infertility or multiple miscarriages Strong family history of cancer Adult with late diagnosis of inherited disorder or cancer |
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what was the study of birth defects, i.e., the study of monsters?
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teratology
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what is An environmental or endogenous agent that produces an abnormal condition in a embryo, fetus or subsequent offspring following in utero exposure to that agent?
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teratogen
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what are group exs of teratogens?
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drugs
chemicals external agents maternal condition intrauterine condition physical factors |
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what types of drugs could be teratogens?
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Recreational (ethanol, cigarette smoke, cocaine)
Medications (Accutane, thalidomide, phenytoin, thalidomide, retinoic acid, valproic acid, anticoagulants) |
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what chemicals are teratogens?
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(Lead, organic Hg)
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what external agents are teratogens?
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(Radiation, hyperthermia)
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what maternal conditions are teratogens?
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(PKU, diabetes)
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what intrauterine conditions are teratogens?
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(TORCH)
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what physical factors are teratogens?
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(amniotic bands)
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what infecs can affect fetus?
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rubella
herpes syphilis toxoplasmosis cytomegalovirus HIV |
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what factors influence teratogenicity?
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Timing
Dosage Genetic susceptibility Route of administration Interaction between teratogens |
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how does timing influence rubella?
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First trimester exposure
Full blown syndrome in 50% Second trimester exposure Some features in 5-10% Third trimester exposure Minimal or no effects |
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Exposure prior to implantation leads to one of two outcomes:
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Spontaneous miscarriage
Normal pregnancy Nothing in between |
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intrauterine susceptibility is increased in malformation when?
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most during 1st trimester
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how does tobacco exposure affect fetus?
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½ pack per day leads to a full O.5 lb reduction in fetal weight in the third trimester
More than one pack per day leads to even greater reduction in fetal weight |
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how does alcohol exposure affect fetus?
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50% of exposed infants do not demonstrate features of Fetal Alcohol Syndrome (FAS)
Recurrence risk of FAS in siblings of affected children In affected families, no relationship to dose |
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how does route of administration change affect?
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Nasal mucosa, inhalation, oral, anal, intramuscular, intravenous, subcutaneous, transdermal
Route associated with varying peak blood & tissue levels ex: snort cocaine instead of injecting it subq, and get really high peak which vasoconstricts blood supply to fetus |
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what does an alcohol and tobacco combination do to fetus?
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combination results in a more severe growth deficiency than either alone
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why is ethanol most important teratogen?
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Frequency
Long-term consequences |
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how frequent is FAS?
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FAS = ~1/500 live births in USA
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what are the symptoms of kid w/ FAS?
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Growth deficiency
Characteristic facial features Brain malformations/ neurologic problems Characteristic behavior problems |
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What are the effects of cocaine use during pregnancy?
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Prematurity
Intrauterine Growth Restriction Limb Reduction Defects Intracranial hemorrhage Intestinal atresia Urinary Tract Abnormalities |
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what are drugs/meds that could affect fetus?
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Anti-epileptics – valproic acid
Chemotherapy agents - cyclophosphamide Anti-coagulants - coumadin Dermatologic agents - Accutane Psychiatric medications - lithium |
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when do you give meds during pregnancy?
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when you absolutely have to
ex: w/o mom will die ex1: lithium if bipolar ex2: coumadin if clotting disorder |
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when was thalidomide used?
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during vomiting/nausea of pregnancy
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what defects did thalidomide cause?
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Severe Limb reduction defects
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what effects can accutane have on fetus?
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20% incidence of neural tube defects
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what type of drug is accutane?
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Class X drug
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what effects can coumadin have on baby?
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Facial Deformities
Altered skeletal formation and calcification |
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what are the TORCH intrauterine infecs?
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Toxoplasmosis
Other: syphilis Rubella Cytomegalovirus Herpes |
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what effects can toxoplasmosis have on fetus?
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Chorioretinitis
Skin rashes Enlarged liver and spleen Prematurity Hearing deficits Jaundice and anemia |
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what effects can radiation exposure have on fetus?
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Skin abnormalities
Skeletal abnormalities Facial deformities More serious abnormalities Future cancer risk |
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what effects can maternal diabetes have on fetus?
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Congenital Heart defects
Sacral Agenesis Fetal Hypoglycemia Fetal macrosomia |
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what is amniotic band syndrome?
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these bands are like HCl and where ever they touch fetus, body is cut off. Can wrap around umbilical cord, or neck or middle of body and cut baby: death
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what's an encephalocele?
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brain outside cavity of head
seen in accutane |
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when do you give coumadin to patient?
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artificial heart valve: must take or die
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