Genetic Screening Flashcards

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1
Q

Define “genetic screening”

A

Checking DNA for alleles causing genetic disease

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2
Q

Give 3 types of genetic screening

A
  • Identification of carriers
  • Preimplantation Genetic Diagnosis [PGD]
  • Prenatal Testing
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3
Q

Who are the identification of carriers treatment offered to?

A

Individuals with family history of a genetic disorder

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4
Q

What are the advantages of identification of carriers treatment? 2

A
  • Healthcare professionals can advise people on risk of developing disease in later life
  • Individuals can make informed decisions on whether to have children and future treatment
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5
Q

What is the identification of carriers?

A

Individuals are informed whether or not they carry a recessive allele for a genetic disease

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6
Q

What is preimplanation genetic diagnosis?

A
  • Embryos produced by IVF are screened for genetic disorder alleles before implantation
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7
Q

What are the advantages of preimplantation genetic diagnosis? 2

A
  • Reduces chances of giving birth to a baby with a genetic disorder
  • Avoids abortion
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8
Q

What are the issues with the identification of carriers? 4

A
  • Could cause emotional distress
  • Possibility of false results
  • Other genetic abnormalities could be found
  • Genetic discrimination e.g from insurance companies
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9
Q

What are the issues with preimplantation genetic diagnosis? 2

A
  • False results

- Designer babies - choosing appearance characteristics

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10
Q

What is prenatal testing?

A

Screening unborn babies for genetic disorders

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11
Q

Who is prenatal testing offered to?

A

Pregnant women with a family history of genetic disease

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12
Q

What are the two types of prenatal testing?

A
  • Amniocentesis

- Chorionic Villus Sampling

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13
Q

How is amniocentesis carried out? 3

A
  • Test sample of amniotic fluid
  • Obtained via abdomen with fine needle
  • Fetal DNA analysed
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14
Q

What is amniotic fluid?

A

The fluid surrounding the fetus

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15
Q

When can amniocentesis be carried out?

A

15-20 weeks of pregnancy

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16
Q

When can results of amniocentesis be obtained? 2

A
  • Full results: 2-3 weeks after sample taken

- Rapid test [only for common disorders]: 3-4 days

17
Q

What is the risk of miscarriage for amniocentesis?

A

1 percent

18
Q

How is chorionic villus sampling carried out?

A
  • Sample of chorionic villi in placental tissue obtained

- Fetal DNA analysed

19
Q

What are the two ways the chorionic villi sample can be obtained?

A
  • Fine needle in the abdomen

- Catheter in the vagina

20
Q

When can chorionic villus sampling be carried out?

A

11-14 weeks of pregnancy

21
Q

When are initial results available for chorionic villus sampling?

A

In a few days

22
Q

What is the risk of miscarriage for chorionic villus sampling?

A

1-2 percent

23
Q

What is the advantage of CVS over amnioscentisis?

A

Can be done earlier in pregnancy so an earlier decision about abortion can be made

24
Q

What are the risks of using all prenatal testing?

A
  • Emotional stress
  • Miscarriage
  • Genetic discrimination
  • False results
25
Q

What is the main advantage of amniocentesis over CVS

A

Less risk of miscarriage