tetratology and clinical chemistry Flashcards

1
Q

Lab tests can be used for:

A
Diagnosis
Prognosis
Treatment
Screening
Research into biochemical basis of disease
Clinical trial of new drugs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Plasma =

A

Blood with all cells removed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Serum =

A

Blood with cells and coagulation proteins removed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Biological testing can be divided into 2 groups:

A
  1. Selective requesting

2. Screening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Selective requesting =

A

Carried out on basis of individual patient’s clinical situation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Screening tests =

A

Look for disease without there being a necessary clinical indiciation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Newborn screening progaramme looks for how many conditions?

A

9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Conditions looked for in newborn screening program:

A
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-CoA dehydrogenase deficiency
Maple syrup urine sidase
Isovaleric acidaemia
Glutaric aciduria type 1 
Homocystinuria
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

PKU is the absence of =

A

Phenylalanine hydroxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Test for PKU

A

Guthrie test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Background risk of congenital defects =

A

2-3%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Teratogens can induce =

A
Chromosomal abnormalities
Structural abnormalities
Impairment of implantation
Abortion
Fetal death
IUGR
Functional impairment
Behavioural problems
Mental retardation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Ex of teratogens:

A
Medicines
Chemicals
Radiation
Infection
Maternal metabolic disorder
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Birth defects seen in T21 =

A
Mental retardation
Muscle weakness
Downward slant of eyes
Misformed, lowset ears
Abnormal crease in palm of hand 
Heart and intestine defects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Defects seen in turner’s syndrome =

A

Short stature
No ovaries
Learning disabilities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Teratogen =

A

Agent that, if administered to pregnant mother, causes structural or functional abonormalities in foetus.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Behavioural teratology =

A

Effects behaviour or functional adaptation of the offspring to its environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

FAS symptoms =

A

IUGR
Behaviour issues
Learning difficulities
Facial dysmorphia: low nasal bridge, flat midface, thin upper lip, small chin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

No adverse effects on mother but cancer in offspring =

A

Transplacental carcinogenicity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Ex of drug that has transplacental carcinogenicity

A
Diethysiboestrol 
Synthetic oestrogen (vaginal)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

General principles of teratogens:

A
May be harmless to mother
Time of exposure important
Duration and dose important
Genetically determined susceptibility
Synergistic
Placental barrier doesn't exist
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Mendelial inheritence and defects =

A

Single gene, recognisable patterns, risk to future babies doesn’t change

23
Q

Ex of monogenic problems =

A

CF, sickle cell, Marfan’s, DMD

24
Q

Multifactoral inheritience =

A

Multiple genes and environment.

Risk changes

25
Q

Ex of defect that risk changes/increases

A

Spina bifida

26
Q

Spina bifida =

A

Failure of fusion of the caudal neural tube

27
Q

Causes of spina bifida =

A

Chromosome abnormalities
Single gene disorder
Teratogen exposure

28
Q

What % of spina bifida can be prevented with folic acid?

A

70%

29
Q

Ex of drug with steep dose-response curve

A

Methotrexate

30
Q

Why is route of exposure important?

A

Lower systemic exposure best

31
Q

What should be avoided due to synergy?

A

Poly-pharmacy

32
Q

Anti-epileptic drug that should not be taken:

A

Valporate

33
Q

Why is detection of teratogenic effects difficult?

A

Lack of data
Lack of research
Background risk

34
Q

Where does info come from?

A

Epidemiological study
Human case reports
Preclinical studies in animals or in vitro

35
Q

Period of max susceptibility =

A

First 10 weeks post conception (12 weeks LMP)

36
Q

Neural tube closes at

A

25-28 days

37
Q

Drugs that shouldn’t be taken in T1

A
Androgens
Oestrogens
Warfarin
Retinoids
Diethystilboestrol
Antiepileptics
38
Q

Androgens in T1 =

A

Virilisation of female

39
Q

Oestrogens in T1 =

A

Feminisation of male fetus

40
Q

Warfarin in T1 =

A

Nasal hypoplasia, skeletal defects

41
Q

Retinoids in T1 =

A

Craniofacial, cardio and CNS defects

42
Q

Diethylstilboestrol in T1 =

A

Uterine lesions

Transplacental carcinogen

43
Q

Antiepileptis in T1 =

A

Facial defects, mental retardation, neural tube defects

44
Q

Drugs not to be given after T1 =

A
Antiepileptics
Warfarin
Benzodiazepines
Antidepressants
Narcotics
ACE inhibitors
45
Q

ACE inhibitors after T1 =

A

Oligohydraminous, growth retardation, lung and kidney hypoplasia, hypocalacaria, convulsions, hypotension, anuria

46
Q

Critical factors when assessing risk to fetus =

A

Stage of pregnancy
Drug/chemical exposure
Clinical condition of mother
Previous OB HX (HX of malformations, recurrent abortions)

47
Q

Principles of prescribing in pregnancy =

A
  • Only if needed (risk vs benefit)
  • Avoid in T1
  • Avoid polypharmacy
  • SOP
  • Lowest effective dose, shortest possible time
  • Avoid new drugs
48
Q

Pain in pregnancy =

A
  1. non-pharma

2. paracetamol - codeine - ibuprofen - paracetamol + codein - codeine + ibuprofen - tramadol - amitriptiline - oramorph

49
Q

When should NSAIDS not be given?

A

After 28 weeks

50
Q

Non-pharma management of nausea and vomiting =

A

small, high carbohydrate, low fat frequent meals

51
Q

1st choice for pharma management of nausea =

A

Cyclizine or promethazine

52
Q

Recommendations for hyperemesis gravidarum =

A

Hospital

Fluid and electrolyte

53
Q

Non-pharma management of constipation

A

Increase: fiber, fluid, exercise

54
Q

Recommened antibiotics:

A

Amoxicillin, cephalosporins
Erythromycin, clindamycin
Nitroduratoin and timethoprim if indicated