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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?

A

MMR

24
Q

What vaccine should be advised in pregnancy?

A
  • Flu

- Whooping cough

25
Q

What does the NBBS test for?

A
  • Sickle cell/ thalassaemia
  • Hypothyroidism
  • CF
  • Phenylketonuria
  • MCADD
  • Maple syrup urine disease
  • Isovaleric acidaemia
  • Glutaric Aciduria
  • Homocystinuria
26
Q

Describe hypothyroidism

A
  • Lack of thyroxine
  • Can cause serious physical and mental disabilities
  • Treatment with thyroxine tablets
27
Q

Describe cystic fibrosis

A
  • 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
Q

Describe phenylketonuria

A
  • Unable to break down phenylalanine which can cause serious mental disability
  • Treated with strictly controlled diet
29
Q

Describe MCADD

A
  • 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
Q

Describe maple syrup urine disease, isovaleric acidaemia, glutaric aciduria and homocystinuria

A
  • 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
Q

What is combined screening?

A
  • Tests for Down’s, Edward’s and Patau’s

- Uses clinical info, crown rump length, nuchal translucency and blood tests

32
Q

What is quadruple screening?

A
  • Done in 2nd trimester

- Tests for Down’s only

33
Q

What are diagnostic tests?

A
  • Carried out on women who have a high risk screening result at 12/40
  • CVS and Amniocentesis
  • Risk of miscarriage
34
Q

What is CVS?

A
  • Chorionic villus sampling
  • Needle passed through abdomen into placenta under USS guidance
  • Small fragments of placental tissue aspirated and analysed
35
Q

What is an Amniocentesis?

A
  • Needle passed through abdomen into amniotic sac under USS guidance
  • Small sample of amniotic fluid removed and analysed
36
Q

What must be done after diagnostic testing?

A

Give anti-D if woman is rhesus negative

37
Q

When should a NIPE be carried out?

A

Within 72 hours of birth and then repeated at 6 week GP check

38
Q

What are some of the congenital abnormalities that a NIPE may detect?

A
  • Congenital heart disease
  • Hip dysplasia
  • Cataracts
  • Cryptorchidism
39
Q

When should hearing screening be carried out?

A

Within 5 weeks of birth

40
Q

What are the 2 main types of hearing loss?

A
  • Conductive

- Sensory neural

41
Q

What is conductive hearing loss?

A
  • Caused by blockage of outer/middle ear

- Usually temporary

42
Q

What is sensory neural hearing loss?

A
  • Caused when cochlea (sensory) or hearing nerve (neural) are not functioning effectively
  • Permanent hearing loss
43
Q

What are some causes of sensory neural hearing loss?

A
  • Genetic
  • Maternal infection
  • Hypoxia
  • Childhood infection (e.g. mumps, meningitis)
44
Q

How long does it usually take for the NBBS results to come back?

A

10-14 days

45
Q

What might glucose on urinalysis indicate?

A
  • Diabetes
  • 2x = organise SGTT
  • May be high if just eaten - advise to do sample before eating
46
Q

What might ketones on urinalysis indicate?

A
  • Dehydration/ hunger
47
Q

What might protein on urinalysis indicate?

A
  • Preeclampsia/UTI

- Ask about other symptoms

48
Q

What might leukocytes/bacteria on urinalysis indicate?

A

Infection

YEAR 3 REVISION (49 decks)

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