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Disease & prevention > Case 5 PGT > Flashcards

Case 5 PGT Flashcards

1
Q

What are the reproductive decision options?

A
  1. Natural conception without genetic testing
  2. prenatal diagnosis (chronic villus sampling or amniocentesis)
  3. preimplantation genetic testing (PGT)
  4. donor gametes
  5. adoption or foster parneting
  6. refraiining from having (a) further child(ren)
  7. abortion
  8. parents prepare for child with identifed condition.
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2
Q

What is prenatal diagnosis (PND)?

A
  • testing the fetus before birth to determine if fetus has certain abnormalities (incl hereditary/spontaneous genetic disorders.)
  • invasive testing by means of chorionic villus sampling or amniocentesis
  • Invasive testing during 10-16 weeks of pregnancy
  • Possible termination of pregnancy (TOP)
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3
Q

What is preimplantation genetic testing (PGT)?

A
  • Genetic testing of IVF embryos
  • Only for couples at high risk of affected offspring
  • IVF followed by selection of embryos without the mutation or chromosomal anomaly.
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4
Q

Why do some couples choose for PGT?

A
  • Couples sometimes choose for PGT so have feeling have done everything they could do to prevent child from having a disease.
  • Sometimes due to couples history, what they have experienced with others, disease they had themselves, etc.
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5
Q

What are the limitations of PGT?

A
  • Takes 1-1,5 yrs if lucky to have a healthy baby
  • A lot of hospital visits required
  • Also low success rate so people not always very enthusiastic to do PGT
  • 20-30% chance to get pregnant per treatment.
  • In NL 3 treatments covered by insurance
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6
Q

What are donor gametes?

A
  • Use of egg or sperm donation, child genetically related to one of the parents
  • strict regulations in NL and egg donors quite rare in NL.
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7
Q

What is the aim pre-conception carrier screening (PCS)?

A
  • Give future parents opportunity to make a well informed reproductive decision
  • reproductive choice
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8
Q

What are considerations to take before undergoing preconception carrier screening?

A
  • Unexpected / incidental findings? Do I want to find out?
  • Want to inform family members? → maybe relevant for other family members at risk to let them know, etc.
  • Sometimes patients regret genetic testing.
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9
Q

What is carrier screening?

A
  • type of genetic test that tell you if carry a gene for certain genetic disorders.
  • When it is done before or during pregnancy, it allows to find out chances of having a child with a genetic disorder.
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9
Q

What is carrier screening?

A
  • Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders.
  • When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder.
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10
Q

How can effectiveness of screening prorgamme be assessed?

A
  • Asssssed in terms of a measure of informed choice.
  • Implies that decision to accept/decline screening must be based on: relevant knowledge, free of coercion from others and consistent with the decision-makers values
  • insight into factors that influence uptake & reasons why individuals/couples decided to test or not might indicate degree of informed choice.
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11
Q

When is the best time to offer screening and why?

A

uring the preconception period, since identifying carrier couples before pregnancy allows the greatest number of options with more time to make an informed decision

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12
Q

When can carrier screening be done?

A
  • By individuals or couples before pregnancy (preconception carrier screening)
  • By women during pregnancy and their partners (prenatal carrier screening).
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13
Q

What is expanded carrier screening?

A

Offers carrier screening for multiple recessive disorders, facilitated by new genetic testing technologies that enable the expansion of screening without significantly higher costs.

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14
Q

*What is diagnostic testing?

A
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15
Q

What are the types of prenatal diagnosis?

A
  • Amniocentesis
  • Chronic villus biopsy
16
Q

What is chronic villus biopsy?

A
  • test during pregnancy to check if your baby has a genetic or chromosomal condition, such as Down’s syndrome, CF, sickle cell disease, Edwards’ syndrome or Patau’s syndrome.
  • It involves removing and testing a small sample of cells from the placenta, the organ linking the mother’s blood supply with the unborn baby’s.
  • performed 10-13 weeks of pregnancy
17
Q

What is amniocentesis?

A
  • test done during pregnancy to diagnose certain genetic disorders, birth defects, and other conditions in an unborn baby.
  • The test is usually done between weeks 15 and 20 of pregnancy.
  • Amniocentesis looks at a sample of amniotic fluid (fluid surrounding baby)
18
Q

What is NIPT?

A
  • non-invasive prenatal screening
  • Foetal DNA in maternal blood
  • perfomed between 10 -13 weeks pregnancy
  • Only screen for trisomies 13, 18, 21 (down syndrome)
19
Q

Why do couples have an increased risk of affected offspring?

A
  • They already have an affected child
  • Genetic disorder in the family
20
Q

How can preconception carrier screening and preimplantation genetic testing be used to reduce CF incidence?

A
  • some cultures, focus of screening is on spouse/partner selection or carrier matching, changing choice of partner to prevent disease is option.
  • Contribute to early therapeutic procedures in neonatal (& prenatal) period for certain conditions;
    closer monitoring and surveillance (and earlier diagnosis) of infants born to known carrier couples which might reduce morbidity and mortality related to these disorders.
21
Q

What are the advantages of screening?

A
  • Improved reproductive choice
  • Can scren for multiple diseases (e.g. expanded carrier screening).
  • ECS allows testing of all individuals regardless of ancesty or geographic origin = increases equity. &reduces chance of stigmatisation
22
Q

What are the disadvantages of screening?

A
  • difficult to define who is at risk because of multi-ethnic backgrounds.
  • More couples deciding to have prenatal diagnosis or preimplantation genetic diagnosis, abstain from children or use donor gametes = reduction in # of children born with the diseases that are screened for.
  • expensive
23
Q

What are the societal implementations of screening?

A
  • Different views
  • In some communities with a high burden of severe disease, reduced birth rates of affected children may be regarded as the measure of success
  • Generally positive attitude towards carrier screening, however, several concerns and barriers exist: psychological impact of screening, lack of knowledge, lack of guidance and costs.
24
Q

What does learning about carrier status have an impact on?

A
  • psychological well-being,
  • perceptions of health and
  • (feelings of) discrimination or stigmatisation (social consequences).
25
Q

What are the domains of motives and considerations for decision making?

A
  • Physical → e.g. “concerned about physical burden that is associated with IVF/PGT”
  • Psychological → e.g. “want to feel like we did everything to protect child from inheriting mutation”
  • Ethical → e.g “not up to me to determine whether my child will have mutation or not”
  • Social → e.g. “concerned about negative responses from social environment if we would choose PGT/PND”
  • Practical → e.g. “concerned about influence of the necessary hospital visits for PGT on my daily life”
26
Q

What are the 3 dimensions of informed decision making (IDM)?

A
  1. Knowledge
  2. Deliberation
  3. Value-consistency
27
Q

What is knowledge with regards to IDM?

A

individual understands:
* nature of condition
* options & risks
* limitations, benefits and uncertainties of all options

28
Q

What is deliberation with regards to IDM?

A

individual uses process of deliberation about options and weighs up pros and cons to make a decisio

29
Q

What is value-consistency with regards to IDM?

A

individual considers own preferences and values and makes a decision based on these values.

30
Q

What is the Ottawa decision support framework?

A
31
Q

What are decision aids designed for?

A
  • To provide information on options
  • help people participating in decision making
  • help clarify and communicate personal values
32
Q

What are decision aids not designed for?

A
  • Advise people to choose one option over another
  • Replace consultation with health professional.
33
Q

What is the aim of decision aids?

A

Prepare an individual/couple for decision making by:
* Providing facts about an individuals condition, the options and their pros and cons
* Helping individuals to clarify their values (i.e. the features, that matter most to them)
* Helping individuals to share their values with their health care provider and others, so that a course of action can be determined.

34
Q

What is preconception & counselling?

A

the total of education & care that can or should be given around conception for the health of mother & child.

35
Q

Should we screen for “all” genes before pregnancy?

A

Don’t have the right answers depends on wish of couples, laws in country (what you can & can’t offer), money available to do such testing, etc.

35
Q

Should we screen for “all” genes before pregnancy?

A

Don’t have the right answers depends on wish of couples, laws in country (what you can & can’t offer), money available to do such testing, etc.

Disease & prevention (10 decks)

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