Prenatal development Flashcards

1
Q

autosomoal monosomic disease 2

A

severe genotypic and phenotypic effects

death soon after breath

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2
Q

autosomal trisomic 3-3

A

down’s syndrome - length of that chromosome - level of triplication
1/800 births
triplication of 21st chomosome so you have 47 chromosomes - may have to do with male gamete
- disorder of aging
- effects of aging process on the body
- chromosomal conditions that relates to aging

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3
Q

sex chromosome genetic disorders 2

A

less severe symptoms of consequences

less info and types -2

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4
Q

monosomic sex hormone disorder 5

A
turner syndrome (XO) only females 
phenotypic effects - short, barrel chest, webbed necks, heart disorders - shorter life expectancy 
1 in 2500 
spatial math, memory deficits - intellectual deficits 
diff ranges of effects
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5
Q

karytype

A

lets you see the pairs of chromosomes

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6
Q

INTELLECTUAL deficits

A

usually with all sex chromosomes

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7
Q

YO

A

not enough genetic info to survive

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8
Q

trisomic sex chromosomes

A

3

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9
Q

XYY 5

A
M 
non common - primarily intellectual 
additional level of testosterone, aggression, male androgen at a higher rate
unknown reason 
fertile
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10
Q

XXX 4

A

super females
intellectual deficits - slight physiological - moving through puberty earlier
1 in 1000-2000
spatial awareness

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11
Q

XXY 6

A

M
klinefelter’s syndrome
infertile
verbal difficulties
phenotype expression- different levels - typical female characteristics
most severe - greater likelihood of being diagnosed
second most common chromosomal - 1 in 500 but 1 in 1000 show full blown

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12
Q

3 alterations in structures of chromosomes

A

usually in autosomes
partial deletion
deplication
translocation

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13
Q

partial deletion

A

monosomic is a complete deletion

5th- cat cry syndrome - severe neurological dysfunction - karyotype of the deceased

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14
Q

duplication

A

duplication of a segment of a chromosome - complete duplication if its an XXY, fragile x syndrome - intellectual deficits

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15
Q

translocation

A

some from 22 onto 9 - common - one form of cancer

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16
Q

inheriting karyotypes

A

particular ones

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17
Q

genetic counselling 3

A

women who
difficulty bearing children
repeated miscarriages
over 35 (1/100 to 1/3 for older than 48 have miscarriages - because of the age of the sex gamete

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18
Q

why genetic counselling 2

A

diseases and curiosity

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19
Q

reproductive tech

A

often combined along with counselling
in vitro
donor banks
surrogacy

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20
Q

in vitro fertilization

A

ovum removed, fertilized, deplicate, and returned to uterus, more than 1 fertilized back in uterus - limit implants of multiple births

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21
Q

donor banks 4

A

store and use later or in vitro without gametes
not a business in canada
sperms are more pop

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22
Q

surrogacy

A

male and/or female gametes

fee for service? legal but you cant pay them

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23
Q

new frontiers of reproductive tech 3

A

postmenopausal intervention - have kids for other people - grandkids
- no more viable ovum or hormone to carry organism through gestational period - given hormones
- males keep producing sperms
- transplanted ovaries or uterus - malfunction or lack of egg production/maturation
cloning

24
Q

5 prenatal diagnostic methods

A
detection and treatment of medical problems before birth 
maternal blood analysis 
ultrasounds 
fetoscopy 
amniocentesis 
chorionic villi sampling
25
Q

maternal blood analysis 3

A

0.5 to 1 percent
8th week - organisms are producing blood and their blood moves into the mother - how well is it developing?
downsyndrome
kidney disease - closely linked to maternal supply
anencephaly (nothing other than brain stem) little brain structures, spina bifida - spine not in the column, can be fixed

26
Q

ultrasound 3

A

low risk - sound waves on a screen, 2/3/4D
3 on average for a child - minimally increase the chance of miscarriage
fetal age, multiple pregnancies, gross physical defects

27
Q

fetoscopy 3

A

little more invasive - light risk

facial or limb defects

28
Q

amniocentesis 5

A
1 in 400
11-14 weeks post conception
needle into uterus and take amnio fluid- - invasive so risky 
combination of fetoscopy and ultrasound 
chromosomal disorder
29
Q

chorionic villi sampling 4

A

greater risk 1 in 200
6-8 weeks post conception
limb deformities
uterine wall into placental wall

30
Q

egg

A

1/175 inches

largest cell in human body

31
Q

sperm

A

1/1500 inches

32
Q

conception

A

travel of the sperm to fertilization by randomization
up past cervix to uterus, dies in mucus, uterine contractions assists with it, cilia push the egg down and sperm has to swim pass it

33
Q

marker of gestational age

A

ideally fertilization, but we use the 1st day of last normal menstrual period to estimate alive ovum - but its rarely accurate because its not always in 28 days, not always recording and occassional spotting

34
Q

3 periods of a gestational period

A

zygote
embryo
fetus

35
Q

period of the zygote/egg

A

2 weels long - ferilization to implantation on uterine wall, using the nourishment of the utrine wall to continue development
first cell dupliation before implantation

36
Q

4th day or period of the zygote

A

60-70 cells forming a blastocyst - fluid filled ball, cells are at exterior portion and cavity in the middle collects fluids

37
Q

embryonic disk (blastodisc)

A

eventually become the new organism - cell part of blastocyst - diff disk form diff systmes

38
Q

implantation time

A

days 7-9 after not having the bleeding phase

39
Q

outer layer of blastocyst

A

amnion

amniotic cavity in the middle of embryonic plate and filled with amnionic fluid

40
Q

yolk sac

A

emerges and produces blood cells until organs/bone marrow are narrow - then it becomes liver and spleen

41
Q

liver and spleen

A

make and clean blood

42
Q

umbilical cord

A

1-3ft long
large vein for carrying nutrients and 2 arteries for waste
can wrap around their neck
became of the body stalk
cells of yolk sac produced
placental wall becomes stronger and more amniotic fluid

43
Q

chorion

A

surrounds amnion
fingerlike blood vessels called VILLI into uterine wall to set stage for placental wall
this develops into the placenta which at some point separates

44
Q

how many percentage of zygotes do not make it to implantation? 3 reasons

A

30%

  • sperm and egg do not join properly
  • cell duplication never occurs
  • chemically incapable of implanting
45
Q

what phase is the most important phase?

A

period of the embryo

46
Q

period of the embryo over view 5

A
weeks 2-8 
stronger umbilical cord 
organ and system formation 
future changes - dimension, proportion and refinement of function 
embryonic disk
47
Q

parts of the embryonic disk

A

ectoderm - skin and NS
mesoderm - muslce, skeleton, circulatory system, internal organs
endoderm - digestive system, lungs, urinary track, glands

48
Q

2-4 weeks 3

A

ectoderm forms the neural tube - spinal cord and brain
heart pumps .. blood circulates, initial development
mesoderm starts what might be bone

49
Q

2nd month 5

A
defined features 
heart develops chambers by folding of the tubes, great amount of blood moved in 
yolk sac not needed 
embryo becomes more upright and proportional, mesoderm creates more cells 
responds to touch 
- measurable weight 
- responds to stimulus, reflexive NS
- cant predict it
50
Q

sensitive period 4

A

2nd month
biologically prepared but need stimulus
some organs are done by the time they leave the sensitive period
related to environment - pollutants, smoking, alcohol

51
Q

period of the fetus 7

A
3rd month 
an ounce 
3 inches 
growth finishing 
maybe gender detection 
extend into second and third trimester - mostly increase in size 
hear the heartbeat
52
Q

second trimester 5

A

weeks 13-24
VERNIX - cheeselike to be in an aqueous place, fatty based substance from chaffing and chapping of the skin that prevents it from degrading
LANUGO - hair like
reactive senses - vision and hearing
close to final length - considerable physical growth

53
Q

third trimester 3

A

weeks 25-38
age of viability 22-26, you will survive if you were born right now
responsive listening - beats associated to sounds - muffled but they pick up patterns of rhythm - remember it later

54
Q

amniotic fluid function

A

shock absorber and temp regulating

55
Q

trisomy

A

3 chromosomes in the pair