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YEAR 3 REVISION > Screening > Flashcards

Screening Flashcards

1
Q

What is a haemoglobinopathy?

A

Screening test to detect sickle cell/ thalassaemia carriers

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2
Q

Who is screened for sickle cell/ thalassaemia in pregnancy?

A

Mothers and/or fathers from high risk countries, identified using the family origin questionnaire

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3
Q

How is sickle cell/ thalassaemia inherited?

A

Both recessive disorders, so both parents must have the disease/ be carriers to pass it on

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4
Q

What is sickle cell disease?

A

A group of conditions that involves the malformation of RBC

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5
Q

What is the most serious condition that sickle cell disease causes?

A

Sickle cell anaemia

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6
Q

What are some symptoms that sickle cell disease can cause?

A
  • Chronic anaemia
  • Jaundice
  • Painful crisis
  • Organ damage
  • Infections
  • Strokes
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7
Q

What is thalassaemia?

A

A group of conditions affecting Hb production

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8
Q

What is alpha thalassaemia major?

A
  • Affects the body’s ability to produce alpha globin

- ‘Major’ type is life-threatening

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9
Q

What is beta thalassaemia major?

A
  • Affects the body’s ability to produce beta globin
  • Causes severe anaemia requiring blood transfusions every 3-6 weeks
  • Compatible with life
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10
Q

What are some of the complications of thalassaemia?

A
  • Excess iron (resulting in damage to heart, liver and endocrine system)
  • Bone deformities
  • Enlarged spleen (can worsen anaemia)
  • Infection
  • Slow growth rate
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11
Q

What are the symptoms of thalassaemia?

A
  • Fatigue/ SOB
  • Jaundice
  • Irritability
  • Deformed facial bones
  • Dark urine
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12
Q

Which infectious diseases are screening for in pregnancy?

A
  • HIV
  • Hep B
  • Syphilis
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13
Q

What is HIV?

A
  • Human Immunodeficiency Virus
  • Can result in AIDS if untreated
  • Causes immune suppression and infections
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14
Q

How is HIV transmitted?

A
  • Sexual contact
  • Contact with contaminated blood products
  • Mother to child during pregnancy, delivery or BF
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15
Q

What is the management for HIV?

A
  • Urgent referral to HIV MDT
  • Anti-retroviral therapy
  • Avoid BF
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16
Q

What is Hepatitis B?

A
  • Viral infection of the liver

- Long term, can cause cirrhosis and cancer of the liver

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17
Q

How is Hep B transmitted?

A
  • Sexual contact

- Contaminated blood

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18
Q

What is the management for Hep B?

A
  • Baby vaccinations

- Referral to liver specialist/ Gastroenterologist/ infectious diseases physician

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19
Q

When should the baby be vaccinated for Hep B?

A
  • Within 24 hours of birth
  • 4 weeks
  • 8 weeks
  • 12 weeks
  • 16 weeks
  • 1 year
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20
Q

What is Syphilis?

A

Bacterial infection acquired during unprotected sex

21
Q

What are the adverse effects of Syphilis?

A
  • Affects baby’s neurological development
  • Affects baby’s bones, teeth, vision and hearing
  • Increased risk of miscarriage, stillbirth and LBW
22
Q

What is the management for Syphilis?

A
  • Maternal antibiotics
  • Referral to genitourinary medicine
  • NNN and paed NIPE
23
Q

What vaccine should not be given in pregnancy?

24
Q

What vaccine should be advised in pregnancy?

A
  • Flu

- Whooping cough

25
What does the NBBS test for?
- Sickle cell/ thalassaemia - Hypothyroidism - CF - Phenylketonuria - MCADD - Maple syrup urine disease - Isovaleric acidaemia - Glutaric Aciduria - Homocystinuria
26
Describe hypothyroidism
- Lack of thyroxine - Can cause serious physical and mental disabilities - Treatment with thyroxine tablets
27
Describe cystic fibrosis
- Impaired lung function and pancreatic insufficiency - Sticky mucus secretions cause digestive problems, recurrent chest infections and lung damage - Treated with diet, medication and physiotherapy
28
Describe phenylketonuria
- Unable to break down phenylalanine which can cause serious mental disability - Treated with strictly controlled diet
29
Describe MCADD
- Difficulty breaking down fat into energy - Serious life-threatening symptoms if not feeding well - Avoid fasting and monitor frequency of meals - Frequent glucose polymer drinks
30
Describe maple syrup urine disease, isovaleric acidaemia, glutaric aciduria and homocystinuria
- Difficulty breaking down amino acids - Symptoms include poor feeding, vomiting and lethargy - Can lead to brain damage/ death - Treated with special low protein diet
31
What is combined screening?
- Tests for Down's, Edward's and Patau's | - Uses clinical info, crown rump length, nuchal translucency and blood tests
32
What is quadruple screening?
- Done in 2nd trimester | - Tests for Down's only
33
What are diagnostic tests?
- Carried out on women who have a high risk screening result at 12/40 - CVS and Amniocentesis - Risk of miscarriage
34
What is CVS?
- Chorionic villus sampling - Needle passed through abdomen into placenta under USS guidance - Small fragments of placental tissue aspirated and analysed
35
What is an Amniocentesis?
- Needle passed through abdomen into amniotic sac under USS guidance - Small sample of amniotic fluid removed and analysed
36
What must be done after diagnostic testing?
Give anti-D if woman is rhesus negative
37
When should a NIPE be carried out?
Within 72 hours of birth and then repeated at 6 week GP check
38
What are some of the congenital abnormalities that a NIPE may detect?
- Congenital heart disease - Hip dysplasia - Cataracts - Cryptorchidism
39
When should hearing screening be carried out?
Within 5 weeks of birth
40
What are the 2 main types of hearing loss?
- Conductive | - Sensory neural
41
What is conductive hearing loss?
- Caused by blockage of outer/middle ear | - Usually temporary
42
What is sensory neural hearing loss?
- Caused when cochlea (sensory) or hearing nerve (neural) are not functioning effectively - Permanent hearing loss
43
What are some causes of sensory neural hearing loss?
- Genetic - Maternal infection - Hypoxia - Childhood infection (e.g. mumps, meningitis)
44
How long does it usually take for the NBBS results to come back?
10-14 days
45
What might glucose on urinalysis indicate?
- Diabetes - 2x = organise SGTT - May be high if just eaten - advise to do sample before eating
46
What might ketones on urinalysis indicate?
- Dehydration/ hunger
47
What might protein on urinalysis indicate?
- Preeclampsia/UTI | - Ask about other symptoms
48
What might leukocytes/bacteria on urinalysis indicate?
Infection

YEAR 3 REVISION (49 decks)

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