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A2 Chapter 2 > 2.9 > Flashcards

2.9 Flashcards

1
Q

People may be referred for genetic counselling if they have been

A

diagnosed with a genetic condition

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2
Q

Couples may have had a baby with a genetic condition, or they may be planning a pregnancy but are concerned that they may

A

carry a genetic condition

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3
Q

Usually referred for genetic counselling by their

A

GP or a hospital consultant

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4
Q

Genetic counsellors are

A

specially trained professionals who mainly come from a nursing or medical background

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5
Q

Genetic counsellors have a thorough knowledge of

A

genetic conditions and the impact they can have on a family

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6
Q

Genetic counsellors try to help people

A

understand the nature of genetic conditions and how it affects an individual

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7
Q

Genetic counsellors can offer advice on whether the

A

disorder can be prevented, or whether it is possible to diagnose the condition prenatally

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8
Q

The first meeting between a genetic counsellor and a client involves

A

collecting information about the family history

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9
Q

It is possible that genetic tests need to be carried out on the

A

client(s) or other family members

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10
Q

These tests would be carried out by a

A

clinical geneticist

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11
Q

After the tests, genetic counsellors can explain the

A

information available to the client(s), and help them through associated emotional issues

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12
Q

Genetic counsellors never tell a client what to do, but support them by

A

discussing issues and making information available

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13
Q

(GENETIC SCREENING) some genetic conditions can be diagnosed b taking a sample of some cells from the person and

A

extracting their DNA

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14
Q

(GENETIC SCREENING) if the DNA base sequence of the gene causing the genetic disorder is known, the DNA can be examined to see if the individual has a

A

genetic disorder

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15
Q

(GENETIC SCREENING) It may also be possible to tell whether the person is a

A

carrier of a disorder

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16
Q

(GENETIC SCREENING) Some genetic conditions may be detected by testing for levels of

A

specific enzymes (e.g. in blood samples)

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17
Q

(GENETIC SCREENING) One problem with genetic screening is that we cannot

A

screen for every genetic disorder at the moment

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18
Q

(GENETIC SCREENING) Another problem with genetic screening is that many genetic conditions are caused by several different mutations and we are not able to

A

screen for every single mutation

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19
Q

(TESTING UNBORN BABIES) It is possible to examine DNA from a foetus by carrying out

A

amniocentesis or chorionic villus sampling

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20
Q

(TESTING UNBORN BABIES) Amniocentesis can be carried out between how many weeks of pregnancy

A

15-20

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21
Q

(TESTING UNBORN BABIES) first stage of amniocentesis:

A

ultrasound is used to locate the position of the foetus

22
Q

(TESTING UNBORN BABIES) second stage of amniocentesis:

A

hypodermic needle is inserted through the mother’s abdomen and into the uterus

23
Q

(TESTING UNBORN BABIES) third stage of amniocentesis:

A

a small sample of the amniotic fluid, in which the foetus is growing, is removed into a syringe (this fluid will have foetal cells in it)

24
Q

(TESTING UNBORN BABIES) fourth stage of amniocentesis:

A

the cells may be cultured so that the foetus’ chromosomes can be examined

25
Q

(TESTING UNBORN BABIES) alternatively in amniocentesis - the foetus’ DNA can be extracted from the cells and

A

tested to see if it contains a gene for a genetic disorder

26
Q

(TESTING UNBORN BABIES) Amniocentesis is not usually performed before 15 weeks of pregnancy because of an

A

increased risk of causing miscarriage

27
Q

(TESTING UNBORN BABIES) another diagnostic test is

A

chorionic villus sampling (CVS)

28
Q

(TESTING UNBORN BABIES) CVS can be carried out from about

A

10 weeks of pregnancy

29
Q

(TESTING UNBORN BABIES) first stage of CVS:

A

Ultrasound is used to guide a flexible tube (catheter) through the woman’s vagina, through the cervix and close to the placenta

30
Q

(TESTING UNBORN BABIES) second stage of CVS:

A

A syringe on the other end of the catheter is used to remove a small amount of tissue from the placenta

31
Q

(TESTING UNBORN BABIES) CVS is sometimes done using a needle through the

A

abdomen (as in amniocentesis)

32
Q

(TESTING UNBORN BABIES) CVS gives a 1-2% chance of miscarriage, which is slightly higher than the risk of miscarriage when

A

amniocentesis is carried out

33
Q

(TESTING UNBORN BABIES) If, due to amniocentesis or CVS, a foetus is found to have a genetic disorder, the parents will be offered advice from a

A

genetic counsellor

34
Q

(TESTING UNBORN BABIES) as a result of the advice the parents may choose to

A

terminate the pregnancy

35
Q

(KARYOTYPING) Cells from a foetus can be cultured in a special medium. This contains a chemical that stimulates the cells to

A

divide by mitosis

36
Q

(KARYOTYPING) A spindle inhibitor is used so that many of the cells will start to divide but will not

A

complete mitosis

37
Q

(KARYOTYPING) A photograph of the chromosomes is taken and the images

A

manipulated on a computer screen

38
Q

(KARYOTYPING) the chromosomes are arranged into their homologous pairs, starting with the largest pair and ending with the smallest. This arrangement is called a

A

karyotype

39
Q

(KARYOTYPING) A karyotype like this can detect abnormalities of the chromosomes, but not a

A

disorder involving a single gene

40
Q

(KARYOTYPING) Disorders involving individual genes can be detected using

A

DNA analysis

41
Q

(EMBRYO SCREENING) If a couple is at risk of having a child with a genetic disorder, such as CF, they may choose to have a baby by

A

embryo screening

42
Q

(EMBRYO SCREENING) Involves producing several embryos using IVF treatment - the embryos are allowed to grow to a

A

4- or 8-cell stage

43
Q

(EMBRYO SCREENING) At this 4-/8-cell stage, the embryo is held steadily in a suction pipette, while a smaller, sharper pipette breaks open the protein covering of the embryo and

A

sucks out a single cell

44
Q

(EMBRYO SCREENING) The DNA from this cell can be extracted and tested to see

A

whether the alleles causing the disorder (e.g. CF) are present

45
Q

(EMBRYO SCREENING) Embryos that do not carry the allele for the disorder (e.g. CF) will be implanted into the woman’s uterus. This technique is sometimes called

A

pre-implantation genetic diagnosis (PGD)

46
Q

(EMBRYO SCREENING) the DNA from one embryo may be tested for a large number of different

A

genetic sequences

47
Q

(EMBRYO SCREENING) The embryo is not harmed, as it has only lost a single cell, however, it is a very new technique so nobody born using this technique is yet old enough to have their own children - therefore we cannot be certain that there is

A

no long-term harm

48
Q

(EMBRYO SCREENING) The embryo is also unable to give consent to the

A

treatment

49
Q

(EMBRYO SCREENING) Some people are unhappy about PGD because it involves creating a large number of embryos

A

many of which are not used

50
Q

(EMBRYO SCREENING) Some people feel that selecting embryos allows couples to have a…

A

‘designer baby’

51
Q

(EMBRYO SCREENING) However, embryo testing is regulated by the Human Fertilisation and Embryology Authority (HFEA) and is only allowed for

A

serious genetic conditions

A2 Chapter 2 (15 decks)

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