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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
maternal blood analysis 3
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
ultrasound 3
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
fetoscopy 3
little more invasive - light risk | facial or limb defects
28
amniocentesis 5
``` 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
chorionic villi sampling 4
greater risk 1 in 200 6-8 weeks post conception limb deformities uterine wall into placental wall
30
egg
1/175 inches | largest cell in human body
31
sperm
1/1500 inches
32
conception
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
marker of gestational age
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
3 periods of a gestational period
zygote embryo fetus
35
period of the zygote/egg
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
4th day or period of the zygote
60-70 cells forming a blastocyst - fluid filled ball, cells are at exterior portion and cavity in the middle collects fluids
37
embryonic disk (blastodisc)
eventually become the new organism - cell part of blastocyst - diff disk form diff systmes
38
implantation time
days 7-9 after not having the bleeding phase
39
outer layer of blastocyst
amnion | amniotic cavity in the middle of embryonic plate and filled with amnionic fluid
40
yolk sac
emerges and produces blood cells until organs/bone marrow are narrow - then it becomes liver and spleen
41
liver and spleen
make and clean blood
42
umbilical cord
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
chorion
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
how many percentage of zygotes do not make it to implantation? 3 reasons
30% - sperm and egg do not join properly - cell duplication never occurs - chemically incapable of implanting
45
what phase is the most important phase?
period of the embryo
46
period of the embryo over view 5
``` weeks 2-8 stronger umbilical cord organ and system formation future changes - dimension, proportion and refinement of function embryonic disk ```
47
parts of the embryonic disk
ectoderm - skin and NS mesoderm - muslce, skeleton, circulatory system, internal organs endoderm - digestive system, lungs, urinary track, glands
48
2-4 weeks 3
ectoderm forms the neural tube - spinal cord and brain heart pumps .. blood circulates, initial development mesoderm starts what might be bone
49
2nd month 5
``` 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
sensitive period 4
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
period of the fetus 7
``` 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
second trimester 5
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
third trimester 3
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
amniotic fluid function
shock absorber and temp regulating
55
trisomy
3 chromosomes in the pair

GDA (13 decks)

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