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TAS Perinatal Medicine ✅ > Abnormalities in Embryogenesis ✅ > Flashcards

Abnormalities in Embryogenesis ✅ Flashcards

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
Q

What is the first step in CNS development?

A

Development of the neural plate

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26
Q

What does the neural plate develop from?

A

The ectoderm

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27
Q

What does the neural plate develop from?

A

The ectoderm

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28
Q

When does the neural plate form?

A

3rd wek

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29
Q

What is formed from the neural plate?

A

The neural tube

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30
Q

How is the neural tube formed from the neural plate?

A

Lateral folding

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31
Q

Where does neural tube fusion begin?

A

In the cervical region

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32
Q

When is neural tube fusion complete?

A

By the end of the 4th week

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33
Q

What does the cranial end of the neural tube develop into?

A

Three distinct dilations

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34
Q

What do the distinct dilations of the cranial end of the neural tube go on to become?

A
  • Forebrain
  • Midbrain
  • Hindbrain
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35
Q

What does failure to neural tube to close cranially cause?

A

Anencephaly

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36
Q

What does failure of the neural tube to close caudally cause?

A

Spina bifida

37
Q

What determines the severity of spina bifida?

A

The length and position of the defect

38
Q

What does failure of skull ossification cause?

A

Meningoencephalocele

39
Q

What region is most commonly affected by meningoencephalocele?

A

Occipital region

40
Q

How long does development of rudimentary brain structures continue for?

A

Until the 8th week

41
Q

What happens to the rudimentary brain structures throughout the fetal period?

A

They undergo further growth and elaboration

42
Q

What is the clinical relevance of the long time frame for development of the CNS?

A

It increases the time frame during which the CNS is at risk of teratogenicity

43
Q

When does neuronal proliferation begin?

A

Day 42

44
Q

When is neuronal proliferation complete?

A

By 20 weeks

45
Q

What aspect of CNS development is complete by term?

A

Neuronal migration and the establishment of major fibre pathways

46
Q

When do primary sulci of the brain appear in an ordered manner?

A

From 8-26 weeks

47
Q

When do the secondary sulci of the brain develop?

A

Weeks 30-35

48
Q

What can defects of neuronal migration lead to?

A

Significant neurodevelopment sequelae

49
Q

Give an example of a disorder of neuronal migration

A

Lissencephaly

50
Q

What is the pathology of lissencephaly?

A

Disruption of normal pattern of sulci and gyri

51
Q

How does lissencephaly present?

A

Severe developmental delay

52
Q

What processes in brain develop continue after birth?

A
  • Apoptosis
  • Synaptogenesis
  • Myelination
53
Q

When does the process of apoptosis in brain development begin?

A

17 weeks gestation

54
Q

When is the process of apoptosis in brain development complete?

A

Childhood

55
Q

When does the process of synaptogenesis in brain development begin?

A

19 weeks gestation

56
Q

When is the the process of synaptogenesis in brain development complete?

A

Late childhood

57
Q

When does the process of myelination in brain development begin?

A

29 weeks gestation

58
Q

How long does the process of myelination in brain development continue for?

A

Into adulthood

59
Q

What causes folding of the endodermal layer?

A

Rapid growth of the ectoderm and mesoderm

60
Q

What happens is the endoderm folds?

A

Part of the yolk sac is incorporated into the body cavity

61
Q

What does the part of the yolk sac that is incorporated into the body cavity form?

A

The basis of the GI tract

62
Q

What are the ends of the GI tract covered with?

A

Membranes

63
Q

What happens to the membranes covering the ends of the GI tract?

A

They rupture, forming the mouth and anus

64
Q

What happens to the foregut in the 4th week?

A

It develops respiratory, hepatic, and pancreatic buds

65
Q

How does the respiratory bud separate from the foregut?

A

By formation of the oesophagotracheal septum

66
Q

What happens if there is failure of the respiratory bud to separate from the foregut?

A

Tracheo-oesophageal fistula

67
Q

What happens as the midgut undergoes rapid growth?

A

It herniates into the extra embryonic coelom

68
Q

When does the midgut herniate into the extra embryonic coelom?

A

6th week

69
Q

When does the normal embryonic return of the intestine to the abdominal cavity occur?

A

10 weeks gestation

70
Q

What happens to the loops of the intestine as they return into the abdominal cavity?

A

The rotate

71
Q

What happens if there is a failure of the embryonic intestine to return to the abdominal cavity?

A

Exomphalos

72
Q

What happens if there is failure of the midgut to rotate adequately on return to the body cavity?

A

Malrotation with a shortened mesenteric pedicle

73
Q

What is there a risk of if there is malrotation with a shortened mesenteric pedicle?

A

Volvulus

74
Q

What cause gastroschisisis?

A

The bowel later (after 10 weeks gestation) herniating through an anterior abdominal wall defect

75
Q

What is the first step in the formation of the urogenital system?

A

Formation of the urogenital sinus

76
Q

How is the urogenital sinus formed?

A

The hindgut combines with the surface ectoderm

77
Q

What happens to the urogenital sinus?

A

It separates into the urogenital system and rectum

78
Q

When does the urogenital sinus separate into the urogenital system and rectum?

A

In the 7th week

79
Q

What does a failure of separation of the urogenital sinus lead to?

A

Rectal fistula

80
Q

When does the anal membrane rupture?

A

9th week

81
Q

What does a failure of the anal membrane to rupture lead to?

A

Rectal atresia or imperforate anus

82
Q

What do the head and neck develop from?

A

The frontonasal prominence and six pharyngeal arches

83
Q

What separates the pharyngeal arches?

A

Five pharyngeal clefts

84
Q

What happens to the first pharyngeal arch?

A

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
Q

What does failure of the pharyngeal arches to develop correctly give rise to?

A
  • Lateral cysts and fissures

- Thyroglossal cysts and sinuses

86
Q

What does a failure of the facial prominences to fuse correctly lead to?

A

A variety of clefts of the lip and palate

87
Q

What causes cleft lip?

A

Failure of fusion of the maxillary and medial nasal prominences

88
Q

What causes cleft palate?

A

When the two plates of the soul that form the hard palate are not completely joined

89
Q

What happens to the uvula in cleft palate?

A

It is usually split

TAS Perinatal Medicine ✅ (16 decks)

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