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NU 330 > Chapter 3 > Flashcards

Chapter 3 Flashcards

1
Q

Genetics

A

the functioning and composition of the single gene

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2
Q

Genomics

A

all genes and their interrelationships that have a combined influence on the growth and development of an organism

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3
Q

autosome

A

any pair of chromosome that is NOT the sex chromosomes

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4
Q

somatic

A

body

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5
Q

homolygous

A

matched

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6
Q

genes

A

the coded information that makes a person unique

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7
Q

chromosomes

A

contain genes

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8
Q

DNA

A

hereditary material in the form of threads of chromosomes

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9
Q

what trait will be present when a dominant and recessive gene are paired?

A

dominant

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10
Q

what trait will be present when both genes are recessive?

A

recessive

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11
Q

what trait will be present when both genes are dominant?

A

dominant

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12
Q

genetic diseases are often related to __

A

a defective recessive gene

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13
Q

what is it called when there is a dominant and recessive gene paired together?

A

hybrid

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14
Q

autosomal dominant inheritance: likelihood offspring will be affected?

A

50%

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15
Q

what does vertical pattern of inheritance mean?

A

it passes from generation to generation

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16
Q

who is affected by autosomal dominant inheritance?

A

affects males and females equally

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17
Q

what is an example of autosomal dominant inheritance

A

Huntington’s

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18
Q

autosomal dominant inheritance

A

only one gene in the pair of a variant allele is needed for phenotypic expression; no carriers- either have it or don’t

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19
Q

autosomal recessive inheritance

A

both parents have to be carriers in order for there to be a child that has the disease/trait

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20
Q

autosomal recessive: likelihood offspring will have the disease?

A

25%

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21
Q

what is horizontal inheritance?

A

multiple siblings and not in earlier generations

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22
Q

what is an example of an autosomal recessive inheritance?

A

cystic fibrosis; tay-sachs disease

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23
Q

autosomal recessive: likelihood offspring will carry the disease if only one parent is a carrier?

A

50%

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24
Q

x-linked recessive inheritance

A

the abnormal gene is attached to the x-chromosome

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25
Q

what is an example of x-linked recessive inheritance

A

hemophilia

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26
Q

what is an example of x-linked dominant inheritance

A

fragile X disorder

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27
Q

who is affected more by x-linked recessive inheritance?

A

males are affected more; females carry

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28
Q

sickle cell anemia

A

recessive disorder; African ancestry

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29
Q

cystic fibrosis

A

recessive disorder; European ancestry

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30
Q

tay-sachs disease

A

recessive disorder; Jewish ancestry

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31
Q

Phenylkentonuria (PKU)

A

recessive disorder; lack of enzyme to metabolize the enzyme called phenylalanine

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32
Q

hemophilia

A

x-linked disorder; lack of factor VIII clotting factor- impairs clotting

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33
Q

huntington’s

A

autosomal dominant

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34
Q

duschenne’s muscular dystrophy

A

x-linked recessive

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35
Q

carrier testing

A

identifies individuals who carry one copy of a gene mutation when there is a family hx of a genetic disorder

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36
Q

preimplantation testing

A

used to detect genetic changes in embryos created using assisted reproductive techniques

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37
Q

prenatal testing

A

allows for early detection of genetic disorders

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38
Q

newborn screening

A

detects genetic disorder that can be treated early in life

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39
Q

what puts couples at a high risk for genetic disorders?

A
  1. maternal age >35
  2. hx of previous pregnancy with a newborn with a genetic disorder
  3. one or both parents have a genetic disorder
  4. family hx of genetic disorder
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40
Q

if the fetus is dx with a genetic disorder, couples can ___

A

elect to continue or terminate the pregnancy

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41
Q

nursing actions for couples at high risk for genetic disorders

A
  • educate about the disorder
  • refer to a support group
  • explain the stages of grief
  • encourage the couple to talk openly about their feelings and concerns
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42
Q

what is a teratogen?

A

anything that could be harmful to the fetus

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43
Q

what is the period of highest vulnerability against teratogenic effects?

A

the first 8 weeks of gestation (when major organs are forming)

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44
Q

what are examples of teratogenic agents?

A
  • drugs/medication: prescribed or illicit
  • alcohol
  • infectious diseases/viruses: TORCH
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45
Q

what is TORCH?

A

T: toxoplasmosis
O: other agents (syphilis, varicella, listeria, parvovirus)
R: rubella
C: cytomegalovirus
H: herpes simplex virus (HSV-2)

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46
Q

effects of teratogenic agent: alcohol

A
  • fetal alcohol syndrome
  • low birth weight
  • microcephaly (small head)
  • mental retardation
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47
Q

effects of teratogenic agent: cocaine

A
  • heart, face, limb, GI and GU defects
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48
Q

effects of teratogenic agent: varicella

A
  • heart defects
  • deafness
  • blind
  • mental retardation
  • fetal demise
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49
Q

syphilis causes __

A
  • skin and bone defects
  • fetal demise
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50
Q

puberty

A

period in life which the reproductive organs mature & one becomes functionally capable of reproduction
- the transitional stage between childhood and sexual maturity

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51
Q

menarche

A

the first period; onset of menstruation

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52
Q

menstruation (aka menses)

A

periodic uterine bleeding and vaginal discharge of bloody fluid from the non-pregnant uterus that occurs from the age of puberty to menopause

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53
Q

when does menstruation begin in correlation with ovulation?

A

approximately 14 days after ovulation

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54
Q

what is the menstrual cycle?

A

the hormonal process that prepares the body for a possible pregnancy; consists of the ovarian and endometrial cycles

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55
Q

ovarian cycle

A

28 days divided into three phases: follicular, ovulatory, and luteal

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56
Q

follicular phase: time and hormones

A
  • days 1-14
  • LH and FSH mature the follicle
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57
Q

ovulatory phase: time and hormones

A
  • starts when estrogen levels peak and ends with ovulation when the egg is released from the follicle
  • LH surges before ovulation and Estrogen is high
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58
Q

luteal phase: time and hormones

A
  • ovulation to menstruation
  • high progesterone, low estrogen
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59
Q

in the luteal phase, if the woman is pregnant, then what happens to the hormones associated with this phase?

A

progesterone and estrogen will continue to be produced

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60
Q

in the luteal phase, when the progesterone level drops, what does this symbolize?

A

the start of menses

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61
Q

what occurs during/what is ovulation?

A

the releasing of a human egg

62
Q

infertile phase

A

occurs before and after ovulation

63
Q

fertile phase

A

5-7 days around the middle of the cycle; includes a few days before, during and one day after ovulation

64
Q

how many days in a typical cycle?

A

28 days

65
Q

what day does ovulation occur

A

day 14

66
Q

how many hours does the ovum have to be fertilized before it degenerates?

A

12-24 hours

67
Q

how long can sperm live for?

A

60-72 hours

68
Q

endometrial cycle consists of what phases?

A

proliferation, secretory, and menstrual

69
Q

proliferation phase: time and effect

A
  • follows menstruation, ends with ovulation
  • body prepares for implantation; endometrium becomes thicker and vascular
70
Q

secretory phase: time and effect

A

-follows ovulation, ends with menstruation
- endometrium continues to thicken

71
Q

menstrual phase

A
  • only occurs without pregnancy
  • hormonal changes cause sloughing off and expulsion of endometrial tissue
72
Q

vaginal discharge during pre-ovulation

A

cloudy, yellow/white, sticky

73
Q

vaginal discharge during ovulation

A

watery, clear, stretchy; called spinnebarkeet

74
Q

vaginal discharge during post ovulation

A

thick, cloudy, sticky

75
Q

what happens to the basal body temperature (BBT) due to ovulation

A

increases 24-48 hours after ovulation

76
Q

mittelschmerz

A

abdominal pain in the region of the ovary occurring mid-cycle

77
Q

the sequential process of conception

A
  • gamete
  • ovulation
  • fertilization
  • implantation
78
Q

conception process: gamete

A

egg and sperm formation

79
Q

gamete formation: women

A

begins during fetal life, but eggs mature once menstruation begins

80
Q

gamete formation: men

A

occurs during spermatogensis

81
Q

conception process: ovulation

A

release of egg

82
Q

conception process: fertilization

A

union of gametes

83
Q

conception process: implantation

A

fertilized egg implants into the uterus

84
Q

where does fertilization usually occur?

A

the zygote is fertilized in the ampulla (outer third) of the fallopian tube

85
Q

when does implantation of fertilized ovum occur?

A

around days 5 or 6 after conception (light spotting may occur)

86
Q

where does implantation usually occur?

A

the embryo/blastocyst implants in the upper posterior wall of the uterine mucosa

87
Q

embryo

A

implantation to 8 weeks

88
Q

what happens during the embryo development?

A

body organ formation

89
Q

when does the heart form/start beating?

A

forms: week 3; beats: week 4

90
Q

fetus

A

9 weeks to birth

91
Q

what happens during fetal development?

A

organ growth and maturation

92
Q

what is gestation?

A

280 days or 10 lunar months
- normal timeframe is 37-42 weeks

93
Q

naegele’s rule

A

LMP + 7 days - 3 months + fix the year = EDC (estimated date of conception)

94
Q

what is the placenta?

A

the means of metabolic and gas exchange

95
Q

placenta function: endocrine gland

A

endocrine gland produces hormones that maintain the pregnancy and support embryo/fetus.

96
Q

placenta function: chorionic villi

A

projections of the chorion become vascularized, which supports maternal-fetal circulation

97
Q

can viruses and medications cross the placenta?

A

yes- causes harm

98
Q

amniotic fluid

A
  • fluid from the respiratory and GI tracts of fetus enter the amniotic cavity
  • fetus swallows fluid, which flows in and out of the fetal lungs
  • increases weekly
99
Q

what is one purpose of amniotic fluid?

A

help mature fetal lungs

100
Q

functions of amniotic fluid

A
  • maintain body temp
  • infection barrier
  • oral fluid source
  • waste repository
  • maintain fluid/electrolyte balance
  • cushion trauma
  • musculoskeletal development through freedom of limb movement
101
Q

polyhydramnios

A

excessive amount of amniotic fluid
- > 2000 mL
- Amniotic Fluid Index (AFI) of 25

102
Q

polyhydramnios can indicate:

A

-chromosomal disorders
- GI disorders
- NTD
- cardiac abnormalities
- pregestational & gestational diabetes

103
Q

oligohydramnios

A

decreased amount of amniotic fluid
- <500 mL
- AFI <5

104
Q

oligohydramnios can indicate:

A
  • placental dysfunction
  • renal disorders
  • premature rupture of membranes
105
Q

umbilical cord

A
  • normally arises from the center of the placenta
  • appr. 30-90 cm long
  • contains 3 vessls
106
Q

what are the 3 vessels of the umbilical cord?

A

2 arteries, 1 vein

107
Q

what kind of blood does the vein of the umbilical cord carry?

A

oxygenated blood; returns blood to the fetus

108
Q

what kind of blood do the arteries of the umbilical cord carry?

A

un-oxygenated blood; from embryo to chorionic villi

109
Q

if there is only one artery in the umbilical cord, there could be ___

A

a renal or cardiac defect

110
Q

warton’s jelly

A

jelly-like substance that surrounds the vessels and protects them from injury and/or compression

111
Q

what are the main maternal hormones?

A
  • human chorionic gonadotropin (hCG)
  • human chorionic somatomammotropin (hCS)
  • progesterone
  • estrogen
112
Q

when is hCG detected (timeframe correlating with conception)?

A

8-10 days after conception

113
Q

what does hCG do?

A
  • preserves the fx of the corpus luteum
  • controls the corpus luteam’s secretion of estrogen and progesterone until placenta takes over
114
Q

what hormone is used in pregnancy tests?

A

hCG

115
Q

what does hCS do?

A
  • stimulates maternal metabolism
  • regulates glucoses available to fetus
  • increases insulin resistance
  • prepares breasts for lactation
116
Q

progesterone is referred to as ___

A

the hormone of pregnancy

117
Q

decreases uterine contractility & relaxes the muscles

A

progesterone

118
Q

what type of hormone is estrogen?

A

steroid

119
Q

which female sex characteristics does estrogen affect the development of?

A
  • breast development
  • growth of body hair
  • widening of the hips
120
Q

stimulates uterine growth

A

estrogen

121
Q

what hormone increases late in pregnancy?

A

estrogen

122
Q

what hormone gives uterine sensitivity to oxytocin?

A

estrogen

123
Q

assists the cervix to secrete thick viscous mucus (think mucus plug)

A

progesterone

124
Q

influences the vaginal epithelium

A

progesterone

125
Q

prepares breasts for lactation

A

progesterone

126
Q

decreases contractility caused by estrogens

A

progesterone

127
Q

prepares uterus for implantation

A

progesterone

128
Q

increases breast glandular tissue

A

progesterone

129
Q

stimulate uteroplacental blood flow

A

estrogen

130
Q

proliferation of breast glandular tissue & vascularity causing vasodilation

A

estrogen

131
Q

relaxes joints & pelvic ligaments

A

estrogen

132
Q

stimulates myometrial contractility

A

estrogen

133
Q

monozygotic twins

A
  • identical twins
  • one egg, one fertilization
  • zygote splits
  • genetically the same
    -usually the same sex
134
Q

dizygotic twins

A
  • fraternal twins
  • two eggs (ova), two implantations, two placentas
  • just like siblings born at different times
  • genetically unique
    -same or different sex
135
Q

causes of infertility in men

A
  • endocrine
  • spermatogenesis
  • immunological
  • transport
  • intercourse disorders
136
Q

causes of infertility in women

A
  • ovulatory dysfunction
  • anatomy
  • cervical mucus
137
Q

risk factors for infertility: high risk

A
  1. overweight
  2. diabetes
  3. lubricants
  4. smoking
138
Q

risk factors for infertility: medium risk

A
  1. age
  2. alcohol
  3. anabolic steroids
  4. hot tubs
139
Q

risk factors for infertility: low risk

A
  1. drug abuse
  2. tight clothes
  3. caffeine
140
Q

how to diagnose infertility causes

A
  • STI screening
  • lab tests (hormone imbalance)
  • semen analysis
  • ovulatory dysfunction analysis
  • endometrial biopsy
  • hystero-salpinogram
  • laparoscopy
141
Q

infertility treatments: male

A
  • hormone therapy
  • lifestyle changes
  • medication to treat antibodies or infections
  • repair hernias or varicocele
142
Q

infertility treatments: female

A

-hormone therapy to stimulate ovulation
- medications to treat infection/autoimmune
- lifestyle changes
- fibroid removal

143
Q

what hormones can be used for therapy to stimulate ovualtion?

A

clomiphene citrate, letrozole

144
Q

common assisted fertility techniques

A
  • artificial insemination
  • IVF
  • zift
  • gift
  • embryo transfer
  • testicular sperm aspiration
145
Q

what is the difference between zift and gift?

A
  • zygote- intrafallopian transfer
  • gamete- intrafallopian transfer
146
Q

what are the emotional and ethical implications of infertility patients?

A
  • lots of varying emotions
  • stress and anxiety
  • guilt and strain
  • lack of support/understanding
  • counseling
  • art
147
Q

what is a varicocele

A

a group of blood vessels in the scrotum that affects sperm production

148
Q

what is oogenesis/the hormones involved?

A

the making of the ovum. FSH and LH encourage the maturation

149
Q

what is spermatogenesis/the hormones involved?

A

formation of mature sperm.
1. FSH stimulates sperm production
2. LH stimulates testosterone production
3. Testosterone secreted by the testes promotes maturation of sperm

150
Q

why is cytomegalovirus harmful to the fetus?

A

1 cause of congenital infection; causes CNS deficits, hearing loss, developmental delays

151
Q

what does a mother with HSV put their fetus at risk for?

A

IUGR: intrauterine growth restriction, which can result in premature delivery or death

152
Q

what medication can be prescribed to mom to decrease the risk of NTDs?

A

folic acid (600 mcg)

NU 330 (18 decks)

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