Genetic Screening Flashcards

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1
Q

Why is identification of carriers used?

A

To identify whether two parents are carriers of a genetic disease.

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2
Q

When is identification of carriers used?

A

To allows individuals with a family history of a genetic disorder to allow them to find out whether they carry the faulty allele.

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3
Q

In identification of carriers which cells are extracted to take DNA from?

A

blood or cheek cells

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4
Q

In identification of carriers how are the cells collected?

A

cheek swabs or blood test.

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5
Q

In identification of carriers what should be considered before testing?

A
  • emotional stress
  • false results
  • genetic discrimination
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6
Q

In identification of carriers what happens after testing?

A

If someone finds out that they are a carrier, they can then make an informed decision about whether yo have children or whether to have further testing.

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7
Q

Why is preimplantation genetic diagnosis used?

A

to allow people to have healthy children

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8
Q

When is preimplantation genetic diagnosis used?

A

If someone is at risk of having a child with a genetic disorder.

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9
Q

In preimplantation genetic diagnosis which cells are extracted to extract DNA?

A

8 or 16 embryo cells

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10
Q

In preimplantation genetic diagnosis how are the cells collected?

A

a biopsy

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11
Q

In preimplantation genetic diagnosis what should be considered before testing?

A

Ethical issues that surround IVF (discarded embryos)

  • unreliable and expensive
  • false results
  • designer babies may be created
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12
Q

In preimplantation genetic diagnosis what happens after testing?

A

Only healthy embryos are implanted.

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13
Q

What is prenatal testing?

A

Screening unborn babies (Chorionic Villus sampling + Amniocentesis)

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14
Q

Why is Chorionic Villus sampling used?

A

To check for a genetic of chromosomal condition.

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15
Q

When is Chorionic Villus sampling used?

A

If there is a high risk that the baby could have a genetic disorder.
11-14 into pregnancy

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16
Q

In Chorionic Villus sampling which cells are extracted to extract DNA from?

A

Chorionic Villi

17
Q

In Chorionic Villus sampling how are the cells collected?

A

Using a fine needle through the abdomen or the vagina.

18
Q

In Chorionic Villus sampling what should be considered before testing?

A

Risk of miscarriage
false results which could lead to wrongful births
ethical issues - abortion

19
Q

in Chorionic Villus sampling what happens after testing?

A

Options need to be considered (termination of pregnancy)

20
Q

Why is amniocentesis used?

A

To check for a genetic or chromosomal condition.

21
Q

When is amniocentesis used?

A

If there is a high chance the baby could have a condition.

15-20 weeks into pregnancy

22
Q

In amniocentesis which cells are extracted to extract DNA from?

A

Sample of amniotic fluid containing fetal cells.

23
Q

In amniocentesis how are the cells collected?

A

fine needle through the abdomen

24
Q

In amniocentesis what should be considered before testing?

A

Risk of miscarriage
false results which could lead to aborting a healthy fetis and wrongful births.
Ethical issues - abortion

25
Q

In amniocentesis what happens after testing?

A

Options need to be considered

eg - termination of pregnancy