Foetal Development Flashcards

1
Q

List the events that take place in the first 4 weeks of gestation

A
1st week
- sperm + ovum = fertilisation 
- morula 
- blastocyst
- implantation 
2nd week
- bilaminar germ disc, epiblast/hypoblast (clinical gestation week 4)
3rd week
- gastrulation 
- ectoderm/mesoderm/endoderm
- neurulation - by end of 4th week
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2
Q

What structures are formed form the following:

  • ectoderm
  • mesoderm
  • endoderm
A
Ectoderm 
- skin
- neural tissue 
- pigment cells 
Mesoderm 
- cardiac muscle
- skeletal muscle 
- tubule cell of kidney 
- red blood cells 
- smooth muscle 
Endoderm 
- alveolar cell 
- thyroid cell 
- pancreatic cell
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3
Q

Describe the folding of the embryonic disc

A
  • flat trilaminar disc –> cylindrical embryo
  • cephalo-caudal folding
  • lateral folding
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4
Q

When and what events occur during:

  • the embryonic period
  • the foetal period
A

Embryonic period
- organogenesis
- establishment of main organ systems
- post-fertilisation weeks 3-8 (clinical gestation weeks 5-10)
Foetal period
- maturation and growth of tissues and organs
- post-fertilisation week 9-38 (clinical gestation 11-40 weeks)

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5
Q

What are birth defects?

What are the three types?

A
Birth defects = developmental disorders present at birth, not only physical defects 
Types:
- structural = congenital anomaly 
- function = organ dysfunction 
- metabolic = enzyme/cellular defect
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6
Q

What are the causes of birth defects?

A

Genetic
Environmental
Multi-factorial inheritance - interaction between genetic constitution and environmental factors

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7
Q

Describe the following congenital anomalies:

  • Malformation
  • Disruption
  • Deformation
A

Malformation
- incomplete or abnormal formation of structure
- complete or partial absence of a structure
- alteration of its normal configuration
Disruption
- morphological alterations of already formed structure
- destructive process e.g amniotic bands
Deformation
- mechanical factors e.g. positional talipes w

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8
Q

Describe the chromosomal/genetic causes of birth defects

Decribe Syndromes, Associations and Sequence

A
  • multiorgan involvement
  • usually lethal/significant defects
    Syndromes
  • a group anomalies with a known specific cause
  • e.g. Down’s syndrome
    Association
  • abnormalities which tend to occur together but the cause is not determined e.g. CHARGE
    Sequence
  • when a defect leads to a cascade of further abnormalities e.g. Potters sequence (kidneys don’t form, then no urine, no amniotic fluid, no lungs, other physical changes)
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9
Q

What are the clinics features of Down’s syndrome?

A
  • craniofacial appearance = flat nasal bridge, upslanted palpebral fissures, epicanthic folds, brush field spots)
  • single palmar creases
  • hypotonia
  • congenital heart defects
  • duodenal atresia
  • variable learning difficulties
  • Alzheimer’s/malignancy
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10
Q

What are the two major causes of Down’s syndrome/

A

Maternal non-disjunction

Robertsonian translocation

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11
Q

Define teratogens

What are the determining factors of teratogenic effect?

A
  • agents that can cause predispose to a birth defect
  • single or few systems involved
    Determining factors
  • timing
  • dosage
  • genetic constitution of the embryo
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12
Q

What are the types of teratogen?

A
Drugs 
- include alcohol, cocaine, thalidomide, anticonsulsants, antipsychotics, ACE inhibitors, warfarin 
Environmental chemicals
- e.g. organic mercury, lead 
Infectious agents 
- e.g rubella, CMV, zika 
Radiation 
- high levels of ionising radiation 
Maternal factors 
- SLE, poorly controlled pre-existing DM 
Mechanical factors
- e.g. malformed uterus, oligohyrdramnios, amniotic band
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13
Q

What are the different effects of timing and insult during foetal life?

A

Prior to post-fertilisation week 2
- either miscarriage or no effect
Organogenesis period (week 3-8)
- period of greatest sensitivity to malformation
- different organ systems have different periods of peak sensitivity
- leading to birth defects
Fetogenesis period (week 9-38)
- main effect on growth and functional maturation
- usually not leading to birth defect

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14
Q

What are the classifications of spina bifida?

A

Occulta
Meningocoele
Myelomeningocoele

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15
Q

Draw neural tube formation

A

see lecture

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16
Q

What are the ultrasound features of spina bifida?

A

Lemon sign - tethering of spine –> frontal bone scallopping
Banana sign - cerebellum sucked back and looks bent

17
Q

What is the prognosis of spina bifida?

A

Level of lesion is critical

  • cognitive outcome
  • ambulation
  • spinal deformity
  • continence
  • sexual function
18
Q

What prevents spina bifida and is recommended to women?

A

folic acid

19
Q

Describe craniofacial formation and malformation

A

Face made up of 5 prominences

  • frontonasal, lateral nasal, medial nasal, maxillary, mandibular
  • sulci where they should join
  • if malunion –> cleft lip/palate
20
Q

Give 2 examples of abdominal wall defects

A

Omphalocoele
- transparent sac of amnion attached to umbilical ring containing herniated viscera
- persistence of embryonic midgut herniation
- 60% associated with other abnormalities
- 20% associated with chromosomal disorders e.g. Edward’s
Gastroschisis
- evisceration of foetal intestine through a paraumbilical wall defect
- possible origins include: involution of right umbilical vein or right vitelline artery
- abnormal body wall folding
- associated with young mums, smoking and drug use
- good prognosis after surgical correction

21
Q

What are the options for detection of congenital abnormalities?

A

Genetic testing
- screening e.g. for Down’s
- PIGD
- Invasive testing and non-invasive testing - single gene disorder, chromosomal abnormalities
Imaging
- detailed foetal anomaly scan for structural anomalies at 20 weeks

22
Q

What are the screening options for Down Syndrome?

Which is routinely offered?

A

Triple test = AFP, hCG, uE3
Quadruple test = AFT, hCG, uE3, Inhibin A
Nuchal translucency on ultrasound
Combined = NT, PAPP-A, hCG

23
Q

What is non-invasive prenatal testing?

A
  • foetal genome pieced together from free DNA in maternal blood
  • will soon be a national programme
  • step before invasive testing
  • can pick up XS chromosome 21 for example
24
Q

What are the techniques available for prenatal diagnosis and therapy?

A
  • amniocentesis
  • fetoscopy
  • foetal blood sampling
  • chorionic villous sampling
  • pre-implantation genetic diagnosis
  • non invasive genetic diagnosis (maternal blood)
25
Q

What are the preconception prevention methods for birth defects?

A
  • vaccination e.g. Rubella
  • avoidance of teratogenic drugs/substances
  • folic acid to decrease neural tube defects
  • nutrition e.g. iodine
  • optimise disease control e.g. diabetes
  • maternal age!
  • prenatal genetic diagnosis?
26
Q

What is the balance in the immune system during pregnancy?

A

PROTECTION = retain ability to fight infections
–> affects susceptibility to infection
TOLERANCE = prevent rejection of the foetus
–> may lead to pregnancy complications

27
Q

The T cell response is modulated during pregnancy:

What are the local mechanisms?

A
  • reduced MHC expression on trophoblast - can’t present antigen
  • IDO mediated tryptophan depletion
  • FAS-ligand dependent deletion of T cells
  • LIF, PDL-1 prodcuction
28
Q

The T cell response is modulated during pregnancy:

What are the perpheral mechanisms?

A
  • altered T cell cytokine production (Th1 to Th2 shift)
  • T regulatory cells
  • hormonal immunomodulation
  • deletion of foetal specific T cells