Chapter 3 Flashcards
(152 cards)
1
Q
Genetics
A
the functioning and composition of the single gene
2
Q
Genomics
A
all genes and their interrelationships that have a combined influence on the growth and development of an organism
3
Q
autosome
A
any pair of chromosome that is NOT the sex chromosomes
4
Q
somatic
A
body
5
Q
homolygous
A
matched
6
Q
genes
A
the coded information that makes a person unique
7
Q
chromosomes
A
contain genes
8
Q
DNA
A
hereditary material in the form of threads of chromosomes
9
Q
what trait will be present when a dominant and recessive gene are paired?
A
dominant
10
Q
what trait will be present when both genes are recessive?
A
recessive
11
Q
what trait will be present when both genes are dominant?
A
dominant
12
Q
genetic diseases are often related to __
A
a defective recessive gene
13
Q
what is it called when there is a dominant and recessive gene paired together?
A
hybrid
14
Q
autosomal dominant inheritance: likelihood offspring will be affected?
A
50%
15
Q
what does vertical pattern of inheritance mean?
A
it passes from generation to generation
16
Q
who is affected by autosomal dominant inheritance?
A
affects males and females equally
17
Q
what is an example of autosomal dominant inheritance
A
Huntington’s
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
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
20
Q
autosomal recessive: likelihood offspring will have the disease?
A
25%
21
Q
what is horizontal inheritance?
A
multiple siblings and not in earlier generations
22
Q
what is an example of an autosomal recessive inheritance?
A
cystic fibrosis; tay-sachs disease
23
Q
autosomal recessive: likelihood offspring will carry the disease if only one parent is a carrier?
A
50%
24
Q
x-linked recessive inheritance
A
the abnormal gene is attached to the x-chromosome
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what is an example of x-linked recessive inheritance
hemophilia
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what is an example of x-linked dominant inheritance
fragile X disorder
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who is affected more by x-linked recessive inheritance?
males are affected more; females carry
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sickle cell anemia
recessive disorder; African ancestry
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cystic fibrosis
recessive disorder; European ancestry
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tay-sachs disease
recessive disorder; Jewish ancestry
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Phenylkentonuria (PKU)
recessive disorder; lack of enzyme to metabolize the enzyme called phenylalanine
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hemophilia
x-linked disorder; lack of factor VIII clotting factor- impairs clotting
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huntington's
autosomal dominant
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duschenne's muscular dystrophy
x-linked recessive
35
carrier testing
identifies individuals who carry one copy of a gene mutation when there is a family hx of a genetic disorder
36
preimplantation testing
used to detect genetic changes in embryos created using assisted reproductive techniques
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prenatal testing
allows for early detection of genetic disorders
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newborn screening
detects genetic disorder that can be treated early in life
39
what puts couples at a high risk for genetic disorders?
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
40
if the fetus is dx with a genetic disorder, couples can ___
elect to continue or terminate the pregnancy
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nursing actions for couples at high risk for genetic disorders
- 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
42
what is a teratogen?
anything that could be harmful to the fetus
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what is the period of highest vulnerability against teratogenic effects?
the first 8 weeks of gestation (when major organs are forming)
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what are examples of teratogenic agents?
- drugs/medication: prescribed or illicit
- alcohol
- infectious diseases/viruses: TORCH
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what is TORCH?
T: toxoplasmosis
O: other agents (syphilis, varicella, listeria, parvovirus)
R: rubella
C: cytomegalovirus
H: herpes simplex virus (HSV-2)
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effects of teratogenic agent: alcohol
- fetal alcohol syndrome
- low birth weight
- microcephaly (small head)
- mental retardation
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effects of teratogenic agent: cocaine
- heart, face, limb, GI and GU defects
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effects of teratogenic agent: varicella
- heart defects
- deafness
- blind
- mental retardation
- fetal demise
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syphilis causes __
- skin and bone defects
- fetal demise
50
puberty
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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menarche
the first period; onset of menstruation
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menstruation (aka menses)
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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when does menstruation begin in correlation with ovulation?
approximately 14 days after ovulation
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what is the menstrual cycle?
the hormonal process that prepares the body for a possible pregnancy; consists of the ovarian and endometrial cycles
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ovarian cycle
28 days divided into three phases: follicular, ovulatory, and luteal
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follicular phase: time and hormones
- days 1-14
- LH and FSH mature the follicle
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ovulatory phase: time and hormones
- 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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luteal phase: time and hormones
- ovulation to menstruation
- high progesterone, low estrogen
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in the luteal phase, if the woman is pregnant, then what happens to the hormones associated with this phase?
progesterone and estrogen will continue to be produced
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in the luteal phase, when the progesterone level drops, what does this symbolize?
the start of menses
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what occurs during/what is ovulation?
the releasing of a human egg
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infertile phase
occurs before and after ovulation
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fertile phase
5-7 days around the middle of the cycle; includes a few days before, during and one day after ovulation
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how many days in a typical cycle?
28 days
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what day does ovulation occur
day 14
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how many hours does the ovum have to be fertilized before it degenerates?
12-24 hours
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how long can sperm live for?
60-72 hours
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endometrial cycle consists of what phases?
proliferation, secretory, and menstrual
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proliferation phase: time and effect
- follows menstruation, ends with ovulation
- body prepares for implantation; endometrium becomes thicker and vascular
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secretory phase: time and effect
-follows ovulation, ends with menstruation
- endometrium continues to thicken
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menstrual phase
- only occurs without pregnancy
- hormonal changes cause sloughing off and expulsion of endometrial tissue
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vaginal discharge during pre-ovulation
cloudy, yellow/white, sticky
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vaginal discharge during ovulation
watery, clear, stretchy; called spinnebarkeet
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vaginal discharge during post ovulation
thick, cloudy, sticky
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what happens to the basal body temperature (BBT) due to ovulation
increases 24-48 hours after ovulation
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mittelschmerz
abdominal pain in the region of the ovary occurring mid-cycle
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the sequential process of conception
- gamete
- ovulation
- fertilization
- implantation
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conception process: gamete
egg and sperm formation
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gamete formation: women
begins during fetal life, but eggs mature once menstruation begins
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gamete formation: men
occurs during spermatogensis
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conception process: ovulation
release of egg
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conception process: fertilization
union of gametes
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conception process: implantation
fertilized egg implants into the uterus
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where does fertilization usually occur?
the zygote is fertilized in the ampulla (outer third) of the fallopian tube
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when does implantation of fertilized ovum occur?
around days 5 or 6 after conception (light spotting may occur)
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where does implantation usually occur?
the embryo/blastocyst implants in the upper posterior wall of the uterine mucosa
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embryo
implantation to 8 weeks
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what happens during the embryo development?
body organ formation
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when does the heart form/start beating?
forms: week 3; beats: week 4
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fetus
9 weeks to birth
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what happens during fetal development?
organ growth and maturation
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what is gestation?
280 days or 10 lunar months
- normal timeframe is 37-42 weeks
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naegele's rule
LMP + 7 days - 3 months + fix the year = EDC (estimated date of conception)
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what is the placenta?
the means of metabolic and gas exchange
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placenta function: endocrine gland
endocrine gland produces hormones that maintain the pregnancy and support embryo/fetus.
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placenta function: chorionic villi
projections of the chorion become vascularized, which supports maternal-fetal circulation
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can viruses and medications cross the placenta?
yes- causes harm
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amniotic fluid
- 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
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what is one purpose of amniotic fluid?
help mature fetal lungs
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functions of amniotic fluid
- maintain body temp
- infection barrier
- oral fluid source
- waste repository
- maintain fluid/electrolyte balance
- cushion trauma
- musculoskeletal development through freedom of limb movement
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polyhydramnios
excessive amount of amniotic fluid
- > 2000 mL
- Amniotic Fluid Index (AFI) of 25
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polyhydramnios can indicate:
-chromosomal disorders
- GI disorders
- NTD
- cardiac abnormalities
- pregestational & gestational diabetes
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oligohydramnios
decreased amount of amniotic fluid
- <500 mL
- AFI <5
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oligohydramnios can indicate:
- placental dysfunction
- renal disorders
- premature rupture of membranes
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umbilical cord
- normally arises from the center of the placenta
- appr. 30-90 cm long
- contains 3 vessls
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what are the 3 vessels of the umbilical cord?
2 arteries, 1 vein
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what kind of blood does the vein of the umbilical cord carry?
oxygenated blood; returns blood to the fetus
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what kind of blood do the arteries of the umbilical cord carry?
un-oxygenated blood; from embryo to chorionic villi
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if there is only one artery in the umbilical cord, there could be ___
a renal or cardiac defect
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warton's jelly
jelly-like substance that surrounds the vessels and protects them from injury and/or compression
111
what are the main maternal hormones?
- human chorionic gonadotropin (hCG)
- human chorionic somatomammotropin (hCS)
- progesterone
- estrogen
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when is hCG detected (timeframe correlating with conception)?
8-10 days after conception
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what does hCG do?
- preserves the fx of the corpus luteum
- controls the corpus luteam's secretion of estrogen and progesterone until placenta takes over
114
what hormone is used in pregnancy tests?
hCG
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what does hCS do?
- stimulates maternal metabolism
- regulates glucoses available to fetus
- increases insulin resistance
- prepares breasts for lactation
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progesterone is referred to as ___
the hormone of pregnancy
117
decreases uterine contractility & relaxes the muscles
progesterone
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what type of hormone is estrogen?
steroid
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which female sex characteristics does estrogen affect the development of?
- breast development
- growth of body hair
- widening of the hips
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stimulates uterine growth
estrogen
121
what hormone increases late in pregnancy?
estrogen
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what hormone gives uterine sensitivity to oxytocin?
estrogen
123
assists the cervix to secrete thick viscous mucus (think mucus plug)
progesterone
124
influences the vaginal epithelium
progesterone
125
prepares breasts for lactation
progesterone
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decreases contractility caused by estrogens
progesterone
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prepares uterus for implantation
progesterone
128
increases breast glandular tissue
progesterone
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stimulate uteroplacental blood flow
estrogen
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proliferation of breast glandular tissue & vascularity causing vasodilation
estrogen
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relaxes joints & pelvic ligaments
estrogen
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stimulates myometrial contractility
estrogen
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monozygotic twins
- identical twins
- one egg, one fertilization
- zygote splits
- genetically the same
-usually the same sex
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dizygotic twins
- fraternal twins
- two eggs (ova), two implantations, two placentas
- just like siblings born at different times
- genetically unique
-same or different sex
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causes of infertility in men
- endocrine
- spermatogenesis
- immunological
- transport
- intercourse disorders
136
causes of infertility in women
- ovulatory dysfunction
- anatomy
- cervical mucus
137
risk factors for infertility: high risk
1. overweight
2. diabetes
3. lubricants
4. smoking
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risk factors for infertility: medium risk
1. age
2. alcohol
3. anabolic steroids
4. hot tubs
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risk factors for infertility: low risk
1. drug abuse
2. tight clothes
3. caffeine
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how to diagnose infertility causes
- STI screening
- lab tests (hormone imbalance)
- semen analysis
- ovulatory dysfunction analysis
- endometrial biopsy
- hystero-salpinogram
- laparoscopy
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infertility treatments: male
- hormone therapy
- lifestyle changes
- medication to treat antibodies or infections
- repair hernias or varicocele
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infertility treatments: female
-hormone therapy to stimulate ovulation
- medications to treat infection/autoimmune
- lifestyle changes
- fibroid removal
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what hormones can be used for therapy to stimulate ovualtion?
clomiphene citrate, letrozole
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common assisted fertility techniques
- artificial insemination
- IVF
- zift
- gift
- embryo transfer
- testicular sperm aspiration
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what is the difference between zift and gift?
- zygote- intrafallopian transfer
- gamete- intrafallopian transfer
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what are the emotional and ethical implications of infertility patients?
- lots of varying emotions
- stress and anxiety
- guilt and strain
- lack of support/understanding
- counseling
- art
147
what is a varicocele
a group of blood vessels in the scrotum that affects sperm production
148
what is oogenesis/the hormones involved?
the making of the ovum. FSH and LH encourage the maturation
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what is spermatogenesis/the hormones involved?
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
why is cytomegalovirus harmful to the fetus?
#1 cause of congenital infection; causes CNS deficits, hearing loss, developmental delays
151
what does a mother with HSV put their fetus at risk for?
IUGR: intrauterine growth restriction, which can result in premature delivery or death
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what medication can be prescribed to mom to decrease the risk of NTDs?
folic acid (600 mcg)
