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In this assignment I will discuss the using research to explain the impact of Down syndrome and Cystic Fibrosis on the individual and the society (family, NHS, family, friends and schooling). I will also identify specific examples of chromosome mutations and why they are so significant to each one (mentioned above).
Down’s syndrome (Down syndrome) is a genetic disorder that causes some level of learning disabilities and a distinctive kind of physical features. There are three types of Down syndrome which I will talk about individually these are Trisomy 21, Translocation and Mosaicism. These are the chromosome mutations which cause Down syndrome.
Down syndrome is a chromosomal disorder triggered by an error in cell division. This is when a person has three copies of chromosome 21 instead of the normal two copies. This disorder can lead to impairments in both mental ability and physical development that can range from minor to moderate developmental disabilities.
A lot of babies born with Down’s syndrome are diagnosed with the disorder after birth these babies are likely to have some of the following.
- Have reduced muscle tone which can lead to floppiness (hypotonia)
- Their eyes will slant upwards and outwards.
- They might have a palmar crease where they only have one crease across their palm.
- There average weight and length might be below a normal baby.
- They might have a small nose and flattened nasal bridge.
- A smaller mouth
- A sandal gap (where they have a big space between their first and second toe.
Children with Down syndrome may share some common physical traits; they do not all look the same. Their personalities will vary and their ability to do things. All babies born with Down syndrome will have some form of learning disability it will be different to each individual child.
In some circumstances, babies who have the disorder are identified before birth through antenatal screening for Down’s syndrome. If you have positive results for Down syndrome there will be further tests available to decide how likely it is. The screening tests won’t tell you for definite if your baby has Down’s syndrome. The only definite way to see if your baby has Downs syndrome is to take a sample of the baby’s blood.
Antenatal screening is offered to pregnant women of any age for genetic disorders. However the disorder is still often diagnosed after birth, so they can see the physical characteristics of the baby. Antenatal screening is a way to assess the possibility of your baby having or developing and abnormality disorder during pregnancy. The test should be offered at the end of the first trimester (11-13 weeks). It is possible to have the screening up to 20 weeks of pregnancy although you may have to have more blood tests. The screening tests can help reassure you that your baby has no detected abnormalities, help give you time to be ready for the arrival of baby who has additional needs and enable you to come to a decision about maybe even terminating the pregnancy.
The testing can provide vital information for the care you receive during your pregnancy. However no test can ensure your baby will be born without an abnormality of some kind as some abnormalities may remain undetected. If your test comes back as high you might be offered pre-natal diagnostic tests. This is where they will find how likely it is that your baby will be born with a suspected condition (will never be 100% accurate).
The testing they used to diagnose during pregnancy is known as the “combined test” this will include a blood test and ultrasound scan. A sample of your blood is taken and tested this is to check the levels of certain hormones and proteins. If your blood test comes back which contains abnormal levels of these substances (proteins and hormones), you will have an increased chance of having a baby with Down’s syndrome. When you have an ultrasound scan (nuchal translucency) they will measure the fluid behind the baby’s neck the thickness of this fluid will help in determining whether or not your baby is likely to have downs syndrome. If your baby has a chance of this condition you may be advised by the doctor to have further tests. These tests will probably be Chronic villus sampling or amniocentesis (this will happen whilst the baby is in the womb). Both of these tests carry complications but you will be told about them when you have these tests.
Chronic villus sampling (CVS) comprises of taking a sample of the placenta for closer examination. CVS is performed after 10 weeks of pregnancy. The sample is done by passing a small needle through your abdomen or vagina and neck of your womb (cervix). The needle is guided into the correct position whilst having an ultrasound scan. The sample will be sent for testing and the results will come back to let you know of your baby has Down’s syndrome. The complications which can arise from this test are infection, heavy bleeding and even miscarriage. 1 in every 100women will miscarry following CVS.
Amniocentesis comprises of a small sample of the fluid which surrounds the baby (amniotic fluid) for closer examination. This test is usually carried out after 15 weeks of pregnancy and can be done up to week 22. The same way CVS is taken through the abdomen will be used for this test and with an ultrasound scan. They will use a syringe and take a sample of the fluid and will be sent for testing. The complications which can arise from this is infection and injury to you or your baby. There is also a 1 in 100 chance of miscarriage the same with CVS.
When you are informed of the outcome of your tests you might find this difficult to deal with. Obviously there will be an impact on not only your lives but also going through with the pregnancy. The baby will need more attention than a normal baby throughout its life so the impact can be difficult. The parents will be offered counselling where they can discuss this and the impact of this. It will help to make an informed decision whether or not to carry on with the pregnancy.
After the birth of your baby (when you have gone ahead with the pregnancy) is when the initial diagnosis is made based upon your baby’s physical appearance. For a doctor to definitely diagnose Down’s syndrome they eill do a blood test called karyotype (this is where the chromosomes in the blood are analysed) if the results come back and it has found your baby has an extra 21 chromosome your baby will be officially diagnosed with Down’s syndrome.
Like I mentioned before there are three types of Down’s syndrome and I will go through each one and explain what they are.
Trisomy 21 is when there is an error in the cell division called “nondisjunction”. Nondisjunction is a result of an embryo with three copies of the chromosome 21 instead of the normal two copies. In the normal process of reproduction, the egg and the sperm start out with the normal 46 chromosomes. The egg and the sperm will undergo cell division this is where the 46 chromosomes are divided into half and the egg and sperm cells end up with 23 each. When the egg and the sperm fertilize the baby will end up with a complete set of chromosomes half from the mother and the other half from the father.
Sometimes though, an error occurs, when the 46 chromosomes are being split. Sometimes the egg or the sperm will keep both copies of the chromosome 21 instead of just having one copy. When fertilized the baby will end up with having 3 #21 chromosomes and this is called “trisomy 21” or Down’s syndrome.
This is a typical cell division.
23 chromosomes from the egg
and the sperm. Resulting, in
This is Trisomy 21 starting
With the normal 46
chromosomes and cell
division which results in
This type of Down syndrome is caused by rearranged chromosome material. Just like in trisomy 21 there are three #21 chromosomes, but one of the #21 chromosomes is attached to another chromosome instead of being separate. The extra #21 chromosomes is what causes the health problems associated with Down’s syndrome. In translocation Down syndrome the extra #21 chromosome might be attached to #13 or #14 chromosome. A room full of 100 Down syndrome babies you might not be able to pick out the one who had translocation Down’s syndrome.
How do these chromosomes get stuck together? A chromosome is made up of two arms connected by the centromere. In humans the # 13, 14, 15, 21 and 22 have very short arms and contains very little useful information, theses are called acrocentric chromosomes.
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