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POM - mine > 25 - Cystic Fibrosis > Flashcards

25 - Cystic Fibrosis Flashcards

1
Q

What was the first country to get all new borns to have natal screening

A

New Zealand

Whole country screened

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2
Q

What does the newborn screening program include?

A

Heel Prick
20 metabolic disorders tested
If this screen is positive parents will often google and get lots of often false information which scares and confuses them

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3
Q

Cystic Fibrosis

A
  • CFTR gene > CFTR protein folds and sits in the membrane to form a Cl- channel
  • in CF Cl- can’t be transported out of the cell, Na and water accumulate in the cell, lumen contents in gut and airways become viscous and sticky
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4
Q

Is there a cure for CF

A

no only symptomatic treatment. Early diagnosis better outcome hence screening

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5
Q

What complications can CF cause

A
  • pancreatic insufficiency and chest infections (thick secretions block the duct)
  • can’t digest food so weight loss
  • no release of enzymes so are reabsorbed into the blood > basis of screening!
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6
Q

What is the screening test for CF

A
  1. High blood trypsin
  2. If high then 3 common CF genes tested for
    (top 1% tested for)
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7
Q

WHat if the screening CF test is positive

A
  • leter to midwife

- hard as thought baby was healthy and are excited

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8
Q

What could a positive CF screen mean?

A
  • has CF

- is a carrier

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9
Q

What would the family want to know

A
  • is he a carrier or does he have the disease
  • what does a positive screen mean
  • what are the symptoms?
  • is it a mistake?
  • what about other children?
  • what is CF?
  • will he die?
  • what are his chances of having CF
  • can it be treated?
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10
Q

What are the next steps after a positive screen test?

A
  1. Sweat Test (salty)
  2. Genetics (confirmation)
  3. Stool sample for enzymes (NO chymotrypsin)
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11
Q

What does it mean for the child? What symptoms will he show?

A
  1. Most commonly show recurrent pneumonias leading to progressive lung disease
  2. Failure to thrive
    - other complications due to thick secretions and poor secretion and absorption
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12
Q

What is the initial management of CF?

A

Regular reviews of CF patients are done

  1. History
  2. Growth
  3. Physical examination
    - cough
    - chest deformity
    - auscultation
    - abdominal exam
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13
Q

Investigations done during regular reviews for CF patients

A
  1. Check for infection (throat swab, cough suction, sputum)
  2. O2 monitoring
  3. Lung function testing
  4. Imaging
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14
Q

Infection?

A

Need to check regularly
Most common causes of infection are staph aureus and something else
Infection rates and the types of bacteria involved change over time so need to know what you’re looking for?

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15
Q

What are the 3 main treatments for CF?

A
  1. Respiratory (physiotherapy and exercise)
  2. Nutrition
  3. Other - specific gene therapies
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16
Q

Respiratory treatment

A
  1. Chest physio
  2. Exercise
  3. Antibiotics
17
Q

Nutrition treatment

A
  1. Enzyme replacement
    - enable food absorption
  2. Vitamin supplements
  3. Salt supplements
  4. High calorie diet
  5. Nutritional supplements
  6. Gastrostomy feeds
18
Q

How many CF mutations are there

A

7 main types

19
Q

Why is knowing the specific mutation in each CF case important?

A
  • helps with treatment and predicts severity and symptoms
  • drugs/gene therapies being developed to target each defect separately as each cause an different abnormality in the protein
20
Q

For what mutation do they have good specific treatment for

A

3
no symptoms after treatment
But not funded in NZ
Only 5% of cases

21
Q

How long do CF patients live?

A

40-50 years

22
Q

Clinical geneticist vs genetic counsellor

A
  1. medical doctor - makes the diagnosis and discusses

2. relevant degree - meet with the extended family after the diagnosis

23
Q

What is genetic counselling

A

Genetic counselling is a communication process which aims to help individuals, couples and families understand and adapt to the medical, social, reproductive, psychological and familial implications of the genetic aspect to specific health conditions

24
Q

What are things you need to consider with genetic testing?

A
  • inadvertently revealing family relationships (dad doesn’t carry the mutation or lab mix up)
  • Need to gain informed consent for testing
  • to test children we have to be able to demonstrate a direct benefit
  • discuss who can have access to the results (hopefully wider family so can access accurate genetic testing)
  • distress over the diagnosis (loss of perfect child)
  • feelings of guilt
  • options for the future i.e. will the parents be able to work?
25
Q

When they ask about risk

A

construct a pedigree - risk to other family members

26
Q

Family planning

A
  • give support in making difficult and distressing decisions
27
Q

What are family planning options you would give?

A
  • not having further children
  • having children with no prenatal testing of the child
  • sperm or egg donor
  • prenatal testing (can prepare or terminate)
  • PGD with IVF
28
Q

What are family planning decisions influenced by

A

Ethical and religious beliefs, views on sickness and disability, treatment availability, availability of social and financial support

> whatever the case is or what they decide on you need to support the decision that is best for that family at that time

29
Q

CVS

A
  • 11-13 weeks
  • test placental tissue
  • done at MFM units
  • need maternal sample
  • can get placental Mosaicsm
  • results take 1-2 weeks
  • 1/500 risk
  • reveals the karyotype and gender
30
Q

Amnio

A
  • 15 weeks +
  • testing amniotic fluid
  • results longer
  • risk higher
  • gender and karyotype
31
Q

PGD

A 
Pre-Implantatation Genetic Diagnosis 
- couples who are eligible can access up to 2 publically funded cycles
ELIGIBLE: 
- female under 40
- non-smoker
- BMI under 32
- less than 2 affected kids
- expensive
- uses ICSI
32
Q

ICSI?

A

Intracytoplasmic Sperm injection

33
Q

Is pregnancy garanteed from PGD

A

NO - 30% success rate

  • may get no eggs from mother
  • no reliable embryo
  • may not survive the freeze
  • not every embryo is suitable for biopsy
  • genetic test may be inconclusive (so do diagnostic test on fetus)
  • may not be any unaffected embryo
  • doesn’t rule out chromosome abnormalities!
34
Q

If a couple wants to test their baby what do we have to consider

A
  • that they know what they are getting into
35
Q

Why may you do a test?

A
  • previously affected pregnancy
  • family history
  • parents are known carriers
  • abnormality on scan/screening
  • parental concern (would screen first)

In the future may be due to ..

  • parents KNOW their genotype
  • NIPT (maternal serum with fetal DNA)
  • stem cell therapy for affected fetuses?
36
Q

What does prenatal diagnosis provide?

A

Informed reproductive CHOICE

  • impact on family and friends
  • prevent suffering of baby
  • reassurance
  • options not to continue if baby is affected
  • prepare for new baby
37
Q

Prenatal diagnosis

A

Requires fetal dna so is invasive (placenta or amniotic)
DONT need blood
There is evidence we can get this from maternal plasma/serum
Can get from embryo at IVF or PGD

38
Q

NIPT

A

Non-invasive Prenatal testing

  • fetal DNA in maternal plasma and serum
  • sequence the 10 most common mutations
  • no risk
  • simpler and less stressful
  • earlier result

POM - mine (17 decks)

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