Teratology Flashcards

1
Q

What is the incidence of structural abnormalities

A

Major
-3% live births

Minor

  • 15% live births
  • likelihood of having major abnormality increases with number of minor

1 minor = 3%
2 minor =10%
3 minor = 20%

Account for 25% of infant deaths

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2
Q

What are the causes of congenital malformation

A
Unknown (40%)
Genetic (28%)
Multifactorial (25%)
Twnning (1%)
Environmental (4%)
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3
Q

Which is the highest risk period for congenital malformation and why?

A

increasing rapidly from 0 to 5 weeks
Falls rapidly from 5 to 8 weeks

Slow decline from 8+

Most body systems develop in the first 10 wees

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4
Q

What is the definition of a malformation

A

Disturbed formation of a structure resulting in complete or partial absence or abnormal configuration

ASD, VDS, phocomelia

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5
Q

What is the definition of a disruptions

A

Structural alteration, due to a destructive process, of a structure that has already formed

Amniotic band syndrome

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6
Q

What is the definition of a deformations

A

Abnormal moulding of part of the foetus by mechanical forces

Clubfoot

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7
Q

What is the definition of a syndrome

A

Group of anomalies that occur together with a common cause

Down’s, Foetal alcohol

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8
Q

What is the definition of an association

A

Non random occurrence of two or more anomalies together but cause unkown

VACTERL

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9
Q

What are the principles of teratology

A

The factors that affect how easily a given agent can cause a congenital defect

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10
Q

What are the principles of teratology

A

Genetics
-of conceptus and mother

Timing
-of exposure

Dose and duration
-of exposure

Mechanism
- of action of the teratogen e.g. by inactivating genes or inducing enzymes

Manifestation
-of abnormality that has been caused

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11
Q

What are the TORCH infections

A

Toxoplasmosis

  • hydrocephalus
  • cerebral calcifications

Other
- syphilis, varicella,

Rubella

  • deafness
  • cataracts
  • heart defects

Cytomegalovirus

  • foetal death
  • micocephaly
  • intellectual impairment

Herpes simplex

  • microcephaly
  • micropthalmia
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12
Q

How does radiation act as a teratogen

A

Limb defects

Causes:
-healthcare: Xray-fluoroscopy, barium studies, plain film

CT

Extra careful in:

  • young and child bearing age
  • Pelvis
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13
Q

What are some teratogenic drugs

A
Thalidomide
ACEi
Warfarin
SSRI
Antiepileptcis
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14
Q

What does defects are caused by warfarin

A

skeletal abnoramlities

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15
Q

What does defects are caused by Antipyschotics and antianxiolytics

A
  • limb/skeletal malformations
  • CNS defects
  • Cleft palate
  • CHD
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16
Q

What does defects are caused by isoretinoin

A
  • heart defects

- cleft palate

17
Q

What does defects are caused by ACEi

A

-growth retardation, -foetal death

18
Q

What does defects are caused by anti-epileptics

A

NTDs

Heart and limb malformations

19
Q

What are some consequences of smoking

A

IUGR
Premature birth
Increased risk of oro-facial clefts

20
Q

What are some consequences of alcohol in pregnancy

A

`Risk proportional to exposure

Accidental drinking in early pregnancy with subsequent abstinence unlikely to impact baby

Alcohol diffuse through placenta, enters foetal compartment, accumulates in amniotic fluid

  • oxidative stress
  • placental vasoconstriction
  • mitochondrial damage

Foetal alcohol

21
Q

What are the symptoms of foetal alcohol

A

Epicantal fold

Short palpebral fissure

Thin upper lip

Smooth filtrum

Flat nasal bridge and midface

Growth restriction

Intellectual disability

Behavioural problems

Heart defects

Brain/CNS defects

22
Q

How can horomones be teratogenic

A

Androgenic agents
-masculinisation of female genitalia

Cortisone
-oro-facial clefts

23
Q

How can maternal illness be teratogenic

A

Diabetes
- NTDs & CHD

Obesity

  • CHD
  • Ompalocoele