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Women's Health > Embryology and Birth Defects > Flashcards

Embryology and Birth Defects Flashcards

1
Q

What is spina bifida

A

Neural tube closure fails => cleft vertebrae

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2
Q

Describe the 2 main oesophageal abnormalities that may occur

A

Atresia-blockage

Fistula-oesophagealtracheal connection

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3
Q

What is lung aplasia

A

Lungs fail to form

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4
Q

What are the possible consequences of a malrotation

A

Gut blockage

  • normally herniate, rotates, returns
  • abnormal rotation =.> atresia
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5
Q

What is an omphacele

A

GI found outside the body

-fails to be reabsorbed after herniation

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6
Q

What is spondylocostal dysostosis

A

Normally 1 somite = 1 vertebrae

Abnormal somites = abnormal vertebrae

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7
Q

What forms from the lateral plate mesoderm

A

Heart, CV system, blood
Pleura, pericardium, peritoneum
Smooth muscle, vessels
Dermis, connective tissue

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8
Q

What forms from the intermediate mesoderm

A

Kidney

Gonads

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9
Q

What forms from the paraxial mesoderm

A

Somites

  • back dermis
  • trunk, limb skeletal muscle
  • vertebrae, ribs
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10
Q

What 4 key structures form from the neural crest

A

Migratory cells
Cranial
-skull
-cranial ganglia

Vagal

  • SM
  • GI ganglia
  • cardiac septa

Trunk

  • SNS ganglia
  • adrenal medulla

Sacral

  • SNS ganglia
  • GI ganglia
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11
Q

What is Hirschsprung’s disease

A

Bowel expansion due to lack of enteric ganglia

  • abnormal vagal, sacral neural crest cells
  • needed for peristalsis
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12
Q

What are the 2 categories of genetic factors that contribute to birth defects

A

Chromosomal

  • aneuploidy
  • deletions

Mutation

  • protein function changes
  • promotor/enhancer changes
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13
Q

What environmental factors contribute to birth defects
-TORCHSZ
-drugs
When is the risk the highest

A 
Toxoplasmosis
Other viruses
Rubella
Cytomegalovirus
Herpes, HIv
Syphillis
Zika

Drugs

  • valproate => spina bifida
  • thalidomide => limbs
  • alcohol => fetal alcohol

During the embryonic period = peak organ development

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14
Q

What is congenital adrenal hyperplasia

-how do the sigs and symptoms vary between females and males

A

21 hydroxylase non functional => cortisol and aldosterone can’t be produced
=> excess androgen production

Female
-virilisation of genitals
Male
-electrolyte imbalance => vomit, dehydration, arrhythmia

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15
Q

What is Liebenburg syndrome

A

Pitx1 gene normally => leg expression

promotor/enhancer => expression in arms => legalize arms

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16
Q

What is fetal alcohol syndrome

What are the signs and symptoms

A

Microcephaly
Low nasal bridge, short nose, small jaw, thin upper lip
Smooth philtrum
Mental defects

17
Q

What is oligohydramnios

A

Not enough AF
=> bladder, kidney => fetus compressed
=> joint defects (MSK dev impacted)
=> lung damage (fluid leaks out from lungs, but is needed for its own protection

18
Q

What 3 physical factors can lead to birth defects

A

Oligohydramnios
-not enough amniotic fluid

Amniotic bands
-constrict limbs

Uterine compression

19
Q

What is the cut off for premature survival

Why is this

A

24wk
Surfactant production starts
-needed for lung function

Insufficient glycogen, fat, brown adipose
-accummulate in 3rd trimester

Retinopathy of prematurity

  • eyes not developed
  • high O2 scars retina => blindness
20
Q

What happens on day 0

What happens on week 1

A

Embryogenesis begins

Cleavage and blastocyst formation
-inner cell mass => embryoblast
-outer cell mass => trophoblast
Implantation
-syncytiotrophoblast secretes HCG (detected on day 8-10)
20
Q

What happens on week 2
What happens on week 3
What happens on week 4

A

Bilaminar disk formation

  • 2 germ layers => epiblast and hypoblast
  • 2 cavities => amniotic cavity and yolk sac
  • 2 placental parts => cytotrophoblast and syncytiotrophoblast
  • notachord forms

Gastrulation => endoderm, mesoderm, ectoderm

Initiation of heartbeat
Formation of 4 limb buds
Neural plate closes

20
Q

What happens between week 3-8

  • why is this the riskiest time
  • what are the key points
A

Embryonic period

  • major organs start development
  • haematopoesis taken over by liver, thymus, spleen
  • wk7 sexual differentiation

Most susceptible to teratogens

20
Q

What happens at week 10-12

A

Sex of foetus is recognisable => phenotypic differentiation finishes by wk20

Women's Health (29 decks)

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