Text 4.2. Down's Syndrome And Genetic Screening
■ Essential targets:
By the end of this text you should be able to
explain how Down’s syndrome arises;
compare the main features of amniocentesis and chorionic villus sampling;
discuss the role of a genetic counselor.
Pre-reading
■ Try and answer the following questions. Then check your answers by reading the text.
What do you know about Down’s syndrome?
Who and what is the syndrome named after?
What do children with Down’s syndrome look like?
Exercise A. Match the words with their definitions:
1.
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disability
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A.
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a fault or a lack of something that means that something is not perfect
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2.
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disease
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B.
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a small part or amount of something that is examined in order to find out something about the whole
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3.
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defect
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C.
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happening or done without being planned or organized
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4.
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to prevent
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D.
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to receive money, property etc. from someone after they have died
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5.
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to inherit
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E.
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the final result of a meeting, discussion, war etc., especially when no one knows what it will be until it actually happens
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6.
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to observe
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F.
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to stop something from happening or stop someone from doing something
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7.
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sample
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G.
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the act of ending something or the end of something
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8.
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spontaneous
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H.
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to and notice something; to watch something or someone carefully
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9.
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outcome
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I.
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a physical problem that makes someone unable to use a part of their body properly
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10.
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termination
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J.
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an illness or unhealthy condition in your body, especially one caused by infection
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■ Read the given text and make your essential assignments:
Down's syndrome: trisomy 21
D
own's syndrome is the most common single cause of learning disability in children of school age. Children with the syndrome typically have a round, flat face, and eyelids that appear to slant upwards. In addition to some learning disability, they also have an increased risk of infection (particularly respiratory and ear infections), and heart defects occur in about one-quarter of those with the syndrome.
The syndrome is named after John Langdon Down, a nineteenth century doctor who first described the condition in 1866. In 1959, the French physician Lejeune used chromosome-staining techniques to show that Down's syndrome is caused by an extra chromosome 21. Having one extra chromosome is known as trisomy, hence Down's syndrome is also known as trisomy 21. The extra chromosome usually comes from the egg cell due to non-disjunction of chromosome 21. About 70% of the non-disjunctions occur during meiosis I, when homologous chromosomes fail to separate; 30% occur during meiosis II, when sister chromatids fail to separate. Whether it occurs during meiosis I or meiosis II, non-disjunction leads to trisomy. In a few cases, the extra chromosome comes the father.
In about 3% of cases, Down's syndrome results from translocation of an extra chromosome 21. A region of the chromosome breaks off and rejoins with either the end of the other chromosome 21 or with another non-homologous chromosome (commonly chromosome 15). In these cases, a person may have the normal number of chromosomes, but one of the chromosomes will be abnormally long.
Genetic screening: amniocentesis and chorionic villus sampling
Because of the high risk of Down's syndrome among the babies of older mothers, in the UK mothers over the age of 35 years are usually offered free genetic screening by the National Health Service. Genetic screening refers to procedures used to examine an individual for the presence of a genetic disease or disorder. The most widely available genetic screening procedure for Down's syndrome is amniocentesis.
Amniocentesis is usually carried out at 15-16 weeks of pregnancy. It involves passing a very fine needle into the uterus, observed with an ultrasound image, and withdrawing a sample of amniotic fluid containing fetal cells. The karyotype of the fetal cells is then analysed to test for Down's syndrome. The fetal cells can also be cultured in a suitable medium in a laboratory so that further tests, such as DNA analysis, can be carried out.
Amniocentesis is performed under local anaesthetic and most women do not find it too uncomfortable. However, there is a 0.5-1 per cent risk of spontaneous miscarriage after the procedure. Therefore, amniocentesis is usually recommended only for those at high risk of carrying a Down's baby-In the 1970s, chorionic villus sampling (CVS) was developed in China. In CVS, a sample of cells is taken from the chorionic villus (small finger-like processes which grow from the embryo into the mothers uterus). The sample is obtained either by inserting a needle through the abdomen, or inserting a catheter. The fetal cells in the sample can then be analysed in the same way as for amniocentesis.
CVS can be carried out between week 8 and week 12 of pregnancy. If the test shows the fetus has Down's syndrome, a decision about abortion can be made earlier than with amniocentesis. Early abortions are usually less difficult, both physically and mentally, than later abortions. However, a higher risk of miscarriage is associated with CVS than with amniocentesis.
Until recently, a mother's age was the only factor available to assess the risk for Down's syndrome. Now biochemical markers are being discovered for the condition. For example, women with a high risk of Down's syndrome pregnancies tend to have about twice as much chorionic gonadotrophin (a sex hormone produced in placenta cells) in their blood serum as women with normal pregnancies. Tests for these biochemical markers cannot show the presence of a Down's baby, but they can be used in conjunction with the mother's age to predict the probable risk of having a baby with Down's syndrome. If the risk is high, the mother can then decide whether to have an amniocentesis or CVS.
Genetic counselling
Genetic screening should be followed by genetic counselling, the giving of advice and information about the risks of a genetic disease and its outcome. Counselling is a very challenging task. Counsellors must have a good understanding of medical genetics and need to be well trained in sympathetic counselling techniques. They must give information which helps clients come to their own decision rather than imposing their own views on the clients. Clients should be made aware that the features of Down's syndrome vary widely. The condition often results in individuals with severe mental disability who require a great deal of support, but many people with Down's syndrome lead independent, long, and fulfilling lives, and they are often very loving individuals. It should not be assumed that mothers carrying a fetus with Down's syndrome would automatically opt for termination of pregnancy.
■ Glossary of essential terms for you to know
№
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English term
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Russian equivalent
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1.
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overall
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общий
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2.
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frequency
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частотность, повторяемость
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3.
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advance
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достижение
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4.
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preventative
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профилактический
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5.
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eyelid
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веко
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6.
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to slant
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отклоняться
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7.
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upwards
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вверх, выше
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8.
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condition
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состояние (здоровья)
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9.
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staining
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окрашивающий
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10.
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hence
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следовательно, отсюда
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11.
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disjunction
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разъединение, расчленение
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12.
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to break off
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отрываться, прерываться
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143.
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to rejoin
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присоединить(ся) вновь
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14.
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screening
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отбор, проверка, обследование
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15.
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villus
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ворсинка
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16.
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sampling
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отбор, взятие проб
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17.
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disorder
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расстройство
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18.
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to involve
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включать
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19.
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uterus
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матка
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20.
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to withdraw
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забирать
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21.
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amniotic fluid
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околоплодные воды, амниотическая жидкость
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22.
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karyotype
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кариотип (хромосомный комплекс)
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23.
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to culture
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высевать, культивировать
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24.
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miscarriage
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выкидыш
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25.
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process
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отросток, придаток
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26.
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to assess
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оценивать, давать оценку
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27.
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marker
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индикатор
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28.
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gonadotrophin
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гонадотропный гормон
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29.
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serum
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сыворотка
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30.
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in conjunction with
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в сочетании с, совместно
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31.
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to counsel
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советовать, консультировать
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32.
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outcome
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результат, последствия
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33.
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challenging
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требующий напряжения, испытывающий
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34.
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sympathetic
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полный сочувствия, благожелательный
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35.
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to impose on
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навязывать
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36.
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aware
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сознающий, подготовленный
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37.
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severe
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тяжёлый, суровый, сильный, серьёзный
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38.
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to require
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требовать
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39.
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fulfilling
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соответствующий
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40.
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to assume
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допускать, предполагать
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41.
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fetus
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плод
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42.
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to opt
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делать выбор, выбирать
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43.
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termination
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прекращение
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44.
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trisomy
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трисомия
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45.
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chorionic
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хорионный
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46.
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fetal
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эмбриональный
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■ Your Essential Assignments
Quick check
What is non-disjunction?
Compare amniocentesis and chorionic villus sampling with respect to:
a) When they can be carried out.
b) The risk of inducing a miscarriage.
Name one biochemical marker which can help genetic counselor assess the risk of Down’s syndrome for a client.
Find the missing words:
Verb
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Noun
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Adjective
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increase
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prevention
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risky
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inherit
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performance
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decisive
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analysis
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Use a monolingual English dictionary and give the definitions of the following words:
frequency; range; common; disorder; sympathetic; support.
Suggest Russian equivalents for the following word combinations:
№
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English term
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Russian equivalent
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1.
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throughout the world
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2.
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overall frequency
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3.
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preventative medicine
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4.
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inherited diseases;
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5.
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learning disability
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6.
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genetic screening
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7.
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challenging task
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8.
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sympathetic counselling techniques
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9.
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imposing their own views on the clients
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10.
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great deal of support
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V. Fill in the gaps with the words and expressions from the text:
Advances in DNA technology have brought …in preventive medicine.
We can now … a large range of inherited diseases before birth.
In addition to some learning disability they also have ….
The syndrome is named after John Langdon Down, …who first described the condition in 1866.
Down’s syndrome is caused by ….
Because of the high risk of Down’s syndrome among the babies of older mothers, in the UK mothers over the age of 35 years are usually
offered ….
Genetic screening should be followed by genetic counseling? The giving of advice and information about ….
Counselling is ….
They must give information which helps clients … rather than ….
It should not be assumed that mothers carrying a fetus with Down’s syndrome would ….
VI. Find English equivalents for the following word combinations:
№
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Russian term
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English equivalent
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1.
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достижения в технологии ДНК
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2.
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большой спектр наследственных заболеваний
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3.
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повышенный риск
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4.
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ушные заболевания
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5.
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бесплатное генетическое обследование
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6.
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подходящая среда
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7.
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и физически, и морально
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8.
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технология (методика) дружелюбной консультации
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9.
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серьёзная умственная отсталость
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10.
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прерывание беременности
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VII. Answer the following questions. Use all information given before.
What is non-disjunction?
How do you think society should treat parents who choose to bring into the world a child with a genetic disorder?
Who or what is the syndrome named after?
What do children with Down’s syndrome look like?
When can amniocentesis and chorionic villus sampling be carried out?
Could you compare amniocentesis and CVS with respect to the risk of inducing a miscarriage?
What is Down’s syndrome caused by?
What is a biochemical marker which can help a genetic counselor assess the risk of Down’s syndrome for a client?
What is genetic counseling like?
VIII. Read and translate the short text without any dictionary:
Fact of life:
Throughout the world, the overall frequency of Down's syndrome is about three per 2000 births. The risk increases with the age of the mother. For mothers aged 20 years, one in 2000 babies has Down's syndrome; one in 900 for those aged 30 years; one in 100 for those aged 40 years; and one in 40 for those aged 45 years.
Advances in DNA technology have brought a new era in preventative medicine. We can now detect a large range of inherited diseases before birth, one of the most common of which is Down's syndrome.
Food for thought:
Modern genetics is making it much easier to detect genetic disorders and to screen potential parents, fetuses, and babies. Suggest what benefits and problems might be associated with large-scale genetic screening. How do you think society should deal with parents who choose to proceed with a pregnancy likely to bring into the world a child who has a genetic disorder?
X. Translate into English using all the active possible:
По всему миру вероятность синдрома Дауна равна 3 из 2000 рожденных.
Риск возрастает с возрастом матери.
Дети с синдромом Дауна обычно имеют круглое плоское лицо с широко посаженными глазами.
В дополнение к неспособности к обучению они также подвержены повышенному риску инфицирования (особенно респираторные и ушные инфекции), и кроме того сердечные заболевания случаются у каждого четвертого с синдромом Дауна.
Из-за высокого риска синдрома Дауна у новорожденных в Соединенном королевстве матерям старше 35 лет обычно предлагается бесплатное генетическое обследование, проводимое государственной медицинской службой.
После генетического обследования проводится генетическая консультация, которая дает советы и предоставляет информацию о риске генетического заболевания и его последствиях.
Консультирование является очень непростой задачей.
8.Консультанты должны иметь хорошее понимание медицинской генетики и должны владеть методикой благожелательного консультирования.
Они должны давать информацию, которая может помочь клиентам принять собственное решение, вместо навязывания клиентам своей точки зрения.
Следует довести до клиентов, что признаки синдрома Дауна варьируют широко.
Заболевание часто приводит к сильной умственной отсталости, которая требует большой заботы. Но наряду с этим, многие люди с синдромом Дауна проживают долгую, независимую и полноценную жизнь, и часто эти люди бывают очень любящими.
XI. Meet essential targets reflecting the following issues:
Explain how Down`s syndrome arises
Compare the main features of amniocentesis and chorionic villus sampling
Discuss the role of a genetic counselor.
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