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TAS Perinatal Medicine ✅ > Abnormalities in Embryogenesis ✅ > Flashcards

Abnormalities in Embryogenesis ✅ Flashcards

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1
Q

Why is embryology important when considering congenital abnormality?

A

It can help understand the evolution and configuration of many congenital abnormalities

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2
Q

What happens during the first 14 days of conception?

A

The development and implantation of the bilaminar germ disc occurs

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3
Q

What happens to the bilaminar disc?

A

The process of gastrulation and invagination occurs, transforming it into a trilaminar disc

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4
Q

When is the trilaminar disc formed?

A

By the end of the third week

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5
Q

What layers does the trilaminar disc consist of?

A
  • Ectoderm
  • Mesoderm
  • Endoderm
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6
Q

What organs are derived from the ectoderm?

A
  • CNS
  • PNS
  • Sensory epithelium (ear/eye)
  • Skin, hair, and nails
  • Pituitary, mammary, and sweat glands
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7
Q

What does the mesoderm differentiate into?

A
  • Somites
  • Intermediate mesoderm
  • Parietal mesoderm
  • Blood vessels
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8
Q

What do the somites differentiate into?

A
  • Sclerotome
  • Dermatome
  • Myoterm
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9
Q

What does the sclerotome form?

A

The skeleton

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10
Q

What does the dermatome form?

A

The dermis

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11
Q

What does the myotome form?

A

The muscle

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12
Q

What does the intermediate mesoderm form?

A

The urogenital system

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13
Q

What does the visceral mesoderm form?

A

The GI and cardiac muscle

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14
Q

What does the parietal mesoderm form?

A

The body wall

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15
Q

What organs are formed from the endoderm?

A
  • GI tract
  • Respiratory organs
  • Endocardium
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16
Q

What might be affected by a dysmorphogenic event occurring at the stage of trilaminar disc formation?

A

More than one of the essential events of blastogenesis

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17
Q

What are the essential events of blastogenesis?

A
  • Fusion
  • Lateralisation
  • Decussation
  • Segmentation
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18
Q

Give an example of a condition that results from a dysmorphogenic event occurring in early embryogenesis?

A

VACTERL association

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19
Q

What causes VACTERL association?

A

A field defect of embryonic mesoderm

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20
Q

When do the major organ systems develop?

A

From 4-8th weeks

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21
Q

What do the major organ systems develop from?

A

Secondary developmental fields

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22
Q

What forms the secondary developmental fields/

A

The cephalocaudal and lateral folding of the trilaminar disc

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23
Q

What causes cephalocaudal folding of the trilaminar disc?

A

The rapid growth of the neural tube

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24
Q

What causes lateral folding of the trilaminar disc?

A

The developing somites

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25
What is the first step in CNS development?
Development of the neural plate
26
What does the neural plate develop from?
The ectoderm
27
What does the neural plate develop from?
The ectoderm
28
When does the neural plate form?
3rd wek
29
What is formed from the neural plate?
The neural tube
30
How is the neural tube formed from the neural plate?
Lateral folding
31
Where does neural tube fusion begin?
In the cervical region
32
When is neural tube fusion complete?
By the end of the 4th week
33
What does the cranial end of the neural tube develop into?
Three distinct dilations
34
What do the distinct dilations of the cranial end of the neural tube go on to become?
- Forebrain - Midbrain - Hindbrain
35
What does failure to neural tube to close cranially cause?
Anencephaly
36
What does failure of the neural tube to close caudally cause?
Spina bifida
37
What determines the severity of spina bifida?
The length and position of the defect
38
What does failure of skull ossification cause?
Meningoencephalocele
39
What region is most commonly affected by meningoencephalocele?
Occipital region
40
How long does development of rudimentary brain structures continue for?
Until the 8th week
41
What happens to the rudimentary brain structures throughout the fetal period?
They undergo further growth and elaboration
42
What is the clinical relevance of the long time frame for development of the CNS?
It increases the time frame during which the CNS is at risk of teratogenicity
43
When does neuronal proliferation begin?
Day 42
44
When is neuronal proliferation complete?
By 20 weeks
45
What aspect of CNS development is complete by term?
Neuronal migration and the establishment of major fibre pathways
46
When do primary sulci of the brain appear in an ordered manner?
From 8-26 weeks
47
When do the secondary sulci of the brain develop?
Weeks 30-35
48
What can defects of neuronal migration lead to?
Significant neurodevelopment sequelae
49
Give an example of a disorder of neuronal migration
Lissencephaly
50
What is the pathology of lissencephaly?
Disruption of normal pattern of sulci and gyri
51
How does lissencephaly present?
Severe developmental delay
52
What processes in brain develop continue after birth?
- Apoptosis - Synaptogenesis - Myelination
53
When does the process of apoptosis in brain development begin?
17 weeks gestation
54
When is the process of apoptosis in brain development complete?
Childhood
55
When does the process of synaptogenesis in brain development begin?
19 weeks gestation
56
When is the the process of synaptogenesis in brain development complete?
Late childhood
57
When does the process of myelination in brain development begin?
29 weeks gestation
58
How long does the process of myelination in brain development continue for?
Into adulthood
59
What causes folding of the endodermal layer?
Rapid growth of the ectoderm and mesoderm
60
What happens is the endoderm folds?
Part of the yolk sac is incorporated into the body cavity
61
What does the part of the yolk sac that is incorporated into the body cavity form?
The basis of the GI tract
62
What are the ends of the GI tract covered with?
Membranes
63
What happens to the membranes covering the ends of the GI tract?
They rupture, forming the mouth and anus
64
What happens to the foregut in the 4th week?
It develops respiratory, hepatic, and pancreatic buds
65
How does the respiratory bud separate from the foregut?
By formation of the oesophagotracheal septum
66
What happens if there is failure of the respiratory bud to separate from the foregut?
Tracheo-oesophageal fistula
67
What happens as the midgut undergoes rapid growth?
It herniates into the extra embryonic coelom
68
When does the midgut herniate into the extra embryonic coelom?
6th week
69
When does the normal embryonic return of the intestine to the abdominal cavity occur?
10 weeks gestation
70
What happens to the loops of the intestine as they return into the abdominal cavity?
The rotate
71
What happens if there is a failure of the embryonic intestine to return to the abdominal cavity?
Exomphalos
72
What happens if there is failure of the midgut to rotate adequately on return to the body cavity?
Malrotation with a shortened mesenteric pedicle
73
What is there a risk of if there is malrotation with a shortened mesenteric pedicle?
Volvulus
74
What cause gastroschisisis?
The bowel later (after 10 weeks gestation) herniating through an anterior abdominal wall defect
75
What is the first step in the formation of the urogenital system?
Formation of the urogenital sinus
76
How is the urogenital sinus formed?
The hindgut combines with the surface ectoderm
77
What happens to the urogenital sinus?
It separates into the urogenital system and rectum
78
When does the urogenital sinus separate into the urogenital system and rectum?
In the 7th week
79
What does a failure of separation of the urogenital sinus lead to?
Rectal fistula
80
When does the anal membrane rupture?
9th week
81
What does a failure of the anal membrane to rupture lead to?
Rectal atresia or imperforate anus
82
What do the head and neck develop from?
The frontonasal prominence and six pharyngeal arches
83
What separates the pharyngeal arches?
Five pharyngeal clefts
84
What happens to the first pharyngeal arch?
It divides into the maxillary and the mandibular prominence bilaterally , and fuses with the frontonasal prominent to form the mandible, upper lip, palate, and nose
85
What does failure of the pharyngeal arches to develop correctly give rise to?
- Lateral cysts and fissures | - Thyroglossal cysts and sinuses
86
What does a failure of the facial prominences to fuse correctly lead to?
A variety of clefts of the lip and palate
87
What causes cleft lip?
Failure of fusion of the maxillary and medial nasal prominences
88
What causes cleft palate?
When the two plates of the soul that form the hard palate are not completely joined
89
What happens to the uvula in cleft palate?
It is usually split

TAS Perinatal Medicine ✅ (16 decks)

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