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OB Test 3 > Chapter 3 > Flashcards

Chapter 3 Flashcards

1
Q

Essential competencies for all nurses

A
  • Constructs pedigree from collected family history using standardized symbols and terminology
  • Develops plan of care that incorporates genetic and genomic assessment information
  • Recognizes when one’s own attitudes and values may affect care provided to clients
  • Provides clients with credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies
  • Demonstrates in practice the importance of tailoring genetic information to clients based on ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues
  • Assesses client’s knowledge, perceptions, and responses to genetic and genomic information
  • Facilitates referrals for specialized services
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2
Q

Developing in many areas of maternity and women’s health nursing

A
  • Perinatal screening and testing
  • Neonatal screening and testing
  • Palliative care for infants with genetic conditions
  • Care of women with genetic disorders during pregnancy
  • Identification and care of individuals with genetic conditions
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3
Q

Oncology Nursing Society provides oncology nurses with education and resources to integrate genetics into all phases of care

A

Online updates
Regional classes
Position statements

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4
Q

All human beings are ____% identical at the DNA level

A

99.9%

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5
Q

There are probably about ______ genes in the human genome

A

20,500

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6
Q

Almost ____ genetic tests available, however

A

1900; family history cost effective, very important

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7
Q

Gene identification and testing

A 
Maternal serum screening
Fetal ultrasound or sonograms
Invasive procedures
Carrier screening tests
Predictive testing
Presymptomatic testing
Predispositional testing
RNA
Chromosomes
Direct or molecular testing
Linkage analysis
Biochemical testing
Cytogenetic testing
Prenatal tests
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8
Q

predictive testing -

A

clarify genetic status of asymptomatic family members

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9
Q

Presymptomatic testing - **

A

if gene mutation is present, symptoms will definitely eventually appear

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10
Q

Predispositional testing - **

A

have a mutation that does not “have to” develop the condition; does not have 100% chance of developing condition

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11
Q

What is in newborn screening in TN ?

A

Mat serum testing-neural tube defects, trisomy 13,18,21. Carrier-autosomal recessive: CF, SCD,Tay-Sachs

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12
Q

Genotype- **

A

genetic makeup

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13
Q

Phenotype- **

A

observable expression of a genotype- physical features

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14
Q

Pharmacogenomics -

A

coumadin-CYP2C9 and VKORC1

- Using genetic variations to guide a client’s drug therapy

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15
Q

Gene therapy -

A

Inserting a healthy copy of the defective gene into somatic cells (any cell except sperm or egg)
(used to correct a long list of inherited diseases)

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16
Q

Ethical, legal, and social implications (ELSI)

A
  • Privacy and fairness in use and interpretation of genetic information
  • Clinical integration of new genetics technologies
  • Issues such as possible discrimination and stigmatization
  • Education for professionals and general public about genetics, genetic health care, and ELSI of human genome research
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17
Q

major risk associated with genetic testing concerns with the information gained through testing; results in

A

Increased anxiety, altered family relationships, ability to treat identified condition,informed consent-unknowns,

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18
Q

Factors influencing the decision to undergo genetic testing -

A
  • Seldom an autonomous decision based on the needs of the individual
  • Feelings of responsibility and commitment to others
  • Cultural and ethnic differences
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19
Q

Human development is a complicated process; depends on

A

systematically unraveling genetic material

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20
Q

Development from conception to birth occurs without

A

incident in most cases

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21
Q

Anomalies in the genetic code of the embryo create a

A

birth defect or disorder

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22
Q

DNA -

A

forms chromosomes

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23
Q

Chromosomes-

A

composed of gene

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24
Q

genes -

A

determine persons unique characteristics

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25
Q

Homologous -

A

Matched; 23 pairs

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26
Q

Autosomes -

A

22 pairs; control most traits in the body

27
Q

sex chromosomes -

A

one pair (x - female, y - male)

28
Q

loci -

A

located in the same place place on the two chromosomes

29
Q

alleles -

A

genes at corresponding loci on homologous chromosomes that code for different forms or variations of the same trait

30
Q

All human normal somatic cells contain *

A

46 chromosomes, which are arranged as 23 homologous (matched) chromosomes

31
Q

One chromosome of each pair is inherited *

A

from each parent

32
Q

what is inherited from each parent *

A

22 pairs of autosomes (control most traits) and one pair of sex chromosomes

33
Q

XX **

A

female

34
Q

XY **

A

male

35
Q

Homozygous-

A

same number and arrangement of genes (except the X and Y)-partner has same gene(eye color) two copies of same trait

36
Q

Heterozygous-

A

two different alleles

37
Q

Dominant-

A

considered dominant if it is expressed or phenotypically apparent when only one copy of an allele is associated with the trait present

38
Q

Recessive-

A

considered recessive if it is expressed only when to copies of the alleles associated with the trait are present

39
Q

Abnormalities of chromosome structure -

A

Translocations,,Deletions, Insertions

40
Q

Insertions-

A

extra

41
Q

Deletions –

A

loss of material (monosomy)

42
Q

Translocations-

A

exchange of chromosomal material between two chromosomes

43
Q

Chromosomal Abnormalites

A

Major cause of reproductive loss, congenital problems, and gynecologic disorders

44
Q

Chromosomal Abnormalites Incidence

A

is 0.6% in newborns, 6% in stillbirths, 60% in spontaneous abortions

45
Q

Autosomal abnormalities-

A

differences in number or structure of autosome chromosomes (pairs 1-22) result is unequal distribution of genetic material; Most common is trisomy

46
Q

Trisomy -

A

product of the union of a normal gamete with a gamete containing an extra chromosome; most common down syndrome; 13 & 18 usually don’t live

47
Q

Sex chromosome abnormalities -

A

Turner syndrome, Klinefelter syndrome

48
Q

Turner syndrome-

A

Monosomy X female (missing one chromosome)

49
Q

Klinefelter syndrome-

A

Trisomy XXY male (extra chromosome)

50
Q

Multifactorial inheritance -

A

combination of genetic and environmental factors

51
Q

Unifactorial inheritance-

A

single gene controls a particular trait or disorder; Autosomal dominant inheritance, Autosomal recessive inheritance, Inborn errors of metabolism-(IEM), X-linked Dominant Inheritance, X-linked Recessive Inheritance, Fragile X syndrome

52
Q

Autosomal dominant inheritance-

A

of only need one copy of variant allele for expression

53
Q

Autosomal recessive inheritance-

A

both sets of genes needed (carriers)

54
Q

Inborn errors of metabolism-(IEM)-

A

autosomal recessive-gene mutation reduces efficiency of encoded enzymes –so normal series of chemical reaction cannot occur (phenylketonuria, Tay-Sachs disease, Infantile Krabbe’s disease)

55
Q

phenylketonuria -

A

deficiency in the liver enzyme phenylalanine hydroxylase results in failure to metabolize the amino acid phenylalanine, therefore accumulates in the blood

56
Q

Tay-Sachs -

A

lipid storing disease; no treatment, death 3-4 years

57
Q

Infantile Krabbe’s disease -

A

lysosomal storage disorder characterized by failure of the process of myelination in the central and peripheral nervous systems, death often before 2 years

58
Q

X-linked Dominant Inheritance -

A

Can only occur if father has Klinefelter

59
Q

X-linked Recessive Inheritance-

A

carried on X, females can be heterozygous or homozygous, males hemizygous because only 1 X-usually manifested in male-color blindness, hemophilia, Duchenne MD

60
Q

Fragile X syndrome -

A

fragile x mental retardation

61
Q

Genes mutations that can lead to cancer -

A
  • Environmental factors: (UV light, smoke)
  • Chance
  • Inherited
62
Q

Hereditary breast and ovarian cancer

A

BRCA 1 or BRCA 2

63
Q

Colon cancer

A

Third leading cause of cancer deaths among women

OB Test 3 (8 decks)

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