2C - Genetic Screening Flashcards

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1
Q

What Are The 3 Main Uses Of Genetic Screening?

A

~ Identifying individuals who are carrying an allele at a gene locus for a particular disorder.
~ The screening of embryos prior to implantation during fertility treatment (Preimplantation Genetic Diagnosis PGD).
~ Testing a foetus before birth (Prenatal testing).

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2
Q

Which Individuals Is Carrier Testing Offered To?

A

Individuals with a history of genetic disorders in their family.

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3
Q

What Can Carrier Testing Show?

A

Whether people who have no symptoms carry the allele for particular disorders.

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4
Q

What Are Benefits Of Carrier Testing?
(2 Points)

A

~ Families can make informed decisions before having children.
~ Women can decide whether to have prenatal testing during pregnancy.

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5
Q

What Is IVF?
(2 Points)

A

~ In vitro fertilisation.
~ A type of fertility treatment during which fertilisation is carried out in a lab, embryos produced in this way can be implanted into the uterus where they can develop a foetus.

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6
Q

What Is PGD?
(2 Points)

A

~ Preimplantation genetic diagnosis.
~ Involves the analysis of the DNA of an embryo prior to implanting it into the uterus.

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7
Q

What Are The Benefits Of PGD?
(2 Points)

A

~ Reduces the chances of having a baby with a genetic disorder.
~ It avoids abortion as it is carried out before implantation of the embryo.

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8
Q

What Is Prenatal Testing?

A

Testing the unborn foetus for genetic diseases.

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9
Q

Who Is Prenatal Testing Offered To?

A

Pregnant women with a family history of genetic disorders.

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10
Q

In Prenatal Testing, How Can The DNA Be Obtained?
(2 Points)

A

~ Chorionic villus sampling.
~ Amniocentesis.

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11
Q

What Is Chorionic Villus Sampling?
(2 Points)

A

~ Removing and testing a small sample of cells from the placenta using a fine needle.
~ The cells contain foetal DNA, which can be analysed for genetic disorders allowing parents to make informed decisions regarding the foetus.

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12
Q

In Chorionic Villus Sampling, Around What Week In Pregnancy Is It Carried Out?

A

11-14 weeks.

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13
Q

In Chorionic Villus Sampling, What Is The Chance Of A Miscarriage?

A

1-2%.

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14
Q

What Is Amniocentesis?
(2 Points)

A

~ Involves removing and testing a small sample of cells from amniotic fluid using a fine needle.
~ The fluid contains foetal cells, which contain DNA to be analysed.

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15
Q

In Amniocentesis, Around What Week In Pregnancy Is It Carried Out?

A

15-20 weeks.

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16
Q

In Amniocentesis, What Is The Chance Of A Miscarriage?

A

1%.

17
Q

What Are The Benefits Of Prenatal Testing?
(2 Points)

A

~ Tests allow parents to make informed decisions.
~ Results can help prepare parents for future care of the child, including medical treatment.

18
Q

What Are The Social & Ethical Issues Regarding Genetic Screening?

A

~ Genetic counsellors.
~ Identification Of Carriers.
~ PGD.
~ Prenatal testing.