Week 3 Embyonic Development Flashcards

1
Q

When does conception occur in relation to LMP?

A

2 weeks LMP

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2
Q

What major event occurs during week 1 of embryonic development ?

A

Blastocyst formation

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3
Q

What major event occurs during week 2 of embryonic development ?

A

Implantation

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4
Q

What process leads to specialized structures and functions?

A

Differentiation

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5
Q

Critical period for neural tube defects ?

A

4-6 weeks LMP

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6
Q

What events happen during week 1 of preembryonic period ?

A

Fertilization and cleavage

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7
Q

What is the structure that results from fertilization called ?

A

Zygote

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8
Q

Where does fertilization usually occur ?

A

Ampulla of uterine tube

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9
Q

What are blastomeres ?

A

Cells that result from mitotic cleavage of zygote and are therefore smaller

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10
Q

What is the morula ?

A

Ball of 12-32 blastomeres

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11
Q

What is the function of the zone pellucida ?

A

Prevent polyspermy

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12
Q

What does the inner cell mass of blastocyst develop into ?

A

Embryo

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13
Q

What do the trophoblasts of the blastocyst develop into ?

A

Placenta

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14
Q

What 2 major events occur during week 2 of preembyonic period?

A

Implantation and bilaminar embryonic disc formation

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15
Q

What does the bilaminar embryonic disc form from ?

A

Inner cell mass

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16
Q

What 2 cavities does the bilaminar embryonic disc form between ?

A

Epiblasts

Hypoblasts

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17
Q

Function of the connecting stalk

A

Attach embryo to wall of chorionic cavity

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18
Q

What occurs in week 3 of embryonic development ?

A

Gastrulation

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19
Q

What happens during gastrulation ?

A

Bilaminar embryonic disc forms 3 germ layers

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20
Q

What begins gastrulation ?

A

Formation of primitive streak at caudal end of embryo

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21
Q

What are the 2 locations that the mesoderm does not migrate to ?

A
Prechordal plate (future mouth)
Cloacal plate (future anus)
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22
Q

What is clinical significance of primitative node and pit that form at cranial end of primitive streak ?

A

Organizing Center for notochord mesoderm

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23
Q

What does the ectoderm become ?

A

Nervous system
Epidermis of skin
Eye, teeth, etc

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24
Q

What does the mesoderm become ?

A
Muscles
Bones 
Cartilage 
Blood cells and vessels
Dermis of skin 
Kidneys
Ureters
Genital system
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25
Q

What does the endoderm become ?

A
Lining of GI tract
Liver 
Pancreas
Lining of respiratory tract
Bladder
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26
Q

When does neurulation, somite & coelom formation occur ?

A

Week 3 to late week 4

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27
Q

Briefly outline neural tube formation

A

Overlying ectoderm thickens —> neural plate
Neural plate invaginates in middle —> neural groove and folds
Neural folds fuse —> neural tube
Tube —> zips up in cranial and caudal directions

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28
Q

Briefly outline somite formation

A

Mesoderm beside notochord —> 2 longitudinal columns of paraxial mesoderm —> blocks (somites)
Appear near cranial end —> expand in cranial and caudal directions

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29
Q

What do somites form ?

A

Axial skeleton

Associated muscular and dermis

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30
Q

Briefly outline coelom formation

A

Small cracks form in lateral mesoderm —> coalesce into continuous horseshoe shaped cavity —> 3 body cavities (pericardial, pleural and peritoneal)

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31
Q

What future structure does the transversum give rise to ?

A

Diaphragm

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32
Q

What major event occurs during week 4 of embryonic development ?

A

Body folding

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33
Q

What two types of lateral mesoderm form during embryonic development ?

A

Somatic

Splanchnic

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34
Q

What does intermediate mesoderm form ?

A

Urogenital system

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35
Q

What does splanchnic mesoderm give rise to ?

A

Heart

Visceral layer of serous pericardium and blood vessels

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36
Q

What is most common cause of neural tube defect ?

A

Multifactorial

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37
Q

Structural effects of FASD

A

Facial features and other minor anomalies
Growth retardation (height, weight, head circumference)
Structural brain anomalies

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38
Q

Function effects of FASD

A

Impaired fine motor skills and coordination
Hearing loss
Behavioural/cognitive/learning deficits

39
Q

Facial features associated with FASD

A
Small palpebral fissures 
Smooth philtrum 
Thin upper lip 
Micrognathia 
Minor ear anomalies 
Epicanthal folds 
Low nasal bridge 
Microcephaly
40
Q

What effects are seen from alcohol consumption during first trimester of pregnancy ?

A

Major and minor structural anomalies

41
Q

What effects does alcohol consumption have during 2nd and 3rd trimester ?

A

Neurodevelopmental effects

Growth effects

42
Q

3 main determinants of embryonic / fetal health

A

Genome
Maternal health
Environment / exposures

43
Q

How much folic acid should mother take pre-conception and throughout pregnancy ?

A

0.4-1 mg

5 mg in patient with increased risk

44
Q

Describe gestational age

A

Time since first day of LMP (not pregnant for first 2 weeks)

Used to describe length of pregnancy (40 weeks)

45
Q

Embryonic age

A

Time since ovulation

EA = GA - 2 weeks

46
Q

What is best way to determine gestational age ?

A

Ultrasound at 7-14 weeks using CRL (crown rump length)

47
Q

Explain each part of GTPAL

A

Gravita: # of pregnancies
Term: # of pregnancies delivered at term
Preterm: # of pregnancies delivered preterm (20-37 weeks)
Abortus: # of pregnancies delivered prior to 20 weeks
Living: # of living children

48
Q

Schedule of visits for low risk pregnancy

A

Every 4 weeks until 28 weeks
Every 2 weeks from 28-36 weeks
Every week from 36 weeks on

49
Q

When is gestational diabetes screen done?

A

24-28 weeks

50
Q

Diagnostic tool for aneuploidy

A

Amniocentesis

51
Q

What is NIPT

A

Non-invasive prenatal testing

  • blood test on mom
  • Trisomy 21 detection rate >99%
52
Q

Goals of first trimester dating scan (3) ?

A
  • establish viability
  • date
  • # of fetuses
53
Q

Focus of 2nd trimester detailed scan ?

A
  • fetal anatomy
  • fetal growth
  • amniotic fluid volume
  • placenta location
54
Q

What ultrasounds are routine during pregnancy in Canada ?

A

First trimester dating scan (7-14 weeks)

Second trimester detailed scan (18-22 weeks)

55
Q

What can errors in chromosome segregation during mitosis result in ?

A

Whole chromosome loss or gain

56
Q

What can errors in DNA replication during meiosis result in ?

A

Segmental duplications, deletions or rearrangements

57
Q

Essential features of meiosis

A

Chromosomal pairing and exchange

58
Q

What happens during meiosis I ?

A

DNA duplicated
Crossing over
Pairs line up at metaphase
Homologues separate

59
Q

Errors in chromosome segregation at either MI or MII (non-disjunction) can result in what ?

A

Whole chromosome loss or gain

60
Q

What can cause segmental duplications, deletions or rearrangements during meiosis

A

Errors in DNA replication or errors in meiotic recombination

61
Q

Timeline for meiosis I in oogenesis

A

Begins in embryo

Resumes in puberty and continues through menopause

62
Q

When does meiosis II resume in oogenesis

A

After ovulation and is triggered by fertilization

63
Q

Whole chromosome gain or loss

A

Aneuploidy

64
Q

Unbalanced structural variant

A

Concomitant gain or loss of chromatin

65
Q

Reciprocal Translocation

A

Exchange of broken segments

66
Q

Robertsonian translocation

A

Fusion of 2 Acrocentric chromosomes near centromere

67
Q

Mendelian disease

A

Disease caused by inherited or de novo mutation of one or both members of a gene pair

68
Q

4 patterns of Mendelian disease

A

Autosomal dominant
Autosomal recessive
X-linked recessive
Others

69
Q

Differentiate between genetic, inherited and congenital

A

Genetic: caused by mutation of gene, gene pair or larger portion of genome
Inherited: transmitted from one or both parents
Congenital: present at birth

70
Q

With autosomal recessive diseases about what % of children of unaffected carrier parents are affected ?

A

25%

71
Q

What diseases are more likely if parents are consanguineous ?

A

Autosomal recessive

72
Q

Differentiate familial from genetic and Mendelian

A

Familial: occurs more than once in a family (ex. COVID-19)
Mendelian: could be result of new mutation

73
Q

Mitochondrial inheritance pattern

A

All children of affected women are affected

- all receive her mitochondria

74
Q

What can genome/genomic testing show ?

A

Gain or loss of genomic material
Change in arrangement of genomic material
Change in nucleotide sequence

75
Q

What resolution does cytogenetic testing have ?

A

Detect gain, loss, rearrangement of an entire chromosome or portion visible under light microscope (10 Mb)

76
Q

What resolution does chromosomal microarray have ?

A

Gain or loss of 0.25 - 10 Mb

77
Q

What resolution does sequence analysis have ?

A

Loss, gain or change down to a single base pair of DNA

78
Q

What is the risk for relatives of someone with a multifactorial disease?

A

Increased risk to have the same or a similar disease themselves

79
Q

Relation of multifactorial disorders and sex

A

These disorders are usually more common in one sex than the other

80
Q

What is used to estimate recurrence risks of multifactorial diseases?

A

Empirical data

81
Q

What are GWAS studies ?

A

Genome Wide Association Studies

Compare frequencies of genetic markers in patients with a multifactorial disease and controls.

82
Q

How are polygenic risk scores determined ?

A

Use genome wide SNP genotypes of individuals to estimate risk for developing a multifactorial disease based on all SNPs “known” to be associated with an increased/reduced risk of the disease from GWAS studies

83
Q

Pharmacodynamics vs pharmacokinetics

A

What drugs do to the body

What the body does to drugs

84
Q

How do must drugs get into the blood?

A

Passive diffusion

85
Q

What equation is used to predict relative drug absorption

A

Henderson-Hasselbach

.pH-pKa=log[A/HA]

86
Q

What is bioavailability ?

A

The fraction of drug that reaches systemic circulation unchanged
F=amount of drug in systemic circulation / amount of drug administered

87
Q

How does relative blood flow effect drug delivery ?

A

Drug is delivered to tissues based on perfusion

  1. Brain, heart,liver, kidneys
  2. Muscle, skin
  3. Fat
88
Q

Will a weakly protein bound drug or a highly protein bound drug have a greater pharmacologic effect ?

A

Weakly

89
Q

2 phases of liver enzyme-catalyzed metabolism of drugs

A

Phase I: oxidation/reduction/hydrolysis

Phase II: conjugation

90
Q

What effect do inducers have on enzyme activity

A

Increase the rate of enzyme activity

91
Q

What is the danger of enzyme inhibitors

A

Can lead to potential toxic effect of drug

92
Q

What is first pass metabolism

A

Drugs delivered from GI tract are delivered to liver and metabolized before reaching systemic circulation

93
Q

What are pro drugs ?

A

Drugs that are inactive when administered that rely on metabolism to produce pharmacologically active product

94
Q

Why are lining and glandular epithelia at risk of malignant transformation ?

A
  • proliferates often

- breast tissue: responds to hormonal changes, very dynamic, undifferentiated and develops along lifespan