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Impact of Down Syndrome and Cystic Fibrosis

Chantelle Bailey

In this task I will discuss the using research to clarify the impact of Down syndrome and Cystic Fibrosis on the individual and the contemporary society (family, NHS, family, friends and schooling). I will also identify specific types of chromosome mutations and just why they are really so significant to each one (mentioned previously).

Downs Syndrome

Down's symptoms (Down syndrome) is a hereditary disorder that triggers some level of learning disabilities and a unique kind of physical features. You will discover three types of Down symptoms that i will speak about individually they are Trisomy 21, Translocation and Mosaicism. They are the chromosome mutations which cause Down symptoms.

Down symptoms is a chromosomal disorder brought on by an error in cell department. This is whenever a person has three copies of chromosome 21 rather than the normal two copies. This disorder can lead to impairments in both mental capability and physical development that can range between minor to average developmental disabilities.

A lot of babies given birth to with Down's symptoms are identified as having the disorder after beginning these babies are likely to have some of the next.

  • Have reduced muscle firmness which can result in floppiness (hypotonia)
  • Their sight will slant upwards and outwards.
  • They might have a palmar crease where they only have one crease across their hand.
  • There average weight and length might be below a standard baby.
  • They may have a small nose area and flattened nasal bridge.
  • A smaller mouth
  • A sandal difference (where they have got a large space between their first and second toe.

Children with Down symptoms may share some common physical traits; they do not all look the same. Their personalities will change and their ability to do things. All babies given birth to with Down syndrome will involve some form of learning impairment it will be different to each individual child.

In some circumstances, newborns who have the disorder are identified before beginning through antenatal testing for Down's symptoms. If you have positive results for Down syndrome you will see further tests open to decide how likely it is. The screening process tests won't tell you for distinct if your child has Down's symptoms. The only particular way to see if your baby has Downs symptoms is to have a sample of the baby's bloodstream.

Antenatal screening is offered to women that are pregnant of any years for genetic disorders. However the disorder continues to be often diagnosed after birth, so they can start to see the physical characteristics of the baby. Antenatal verification is ways to assess the likelihood of your baby having or developing and abnormality disorder during motherhood. The test should be offered by the end of the first trimester (11-13 weeks). You'll be able to have the screening process up to 20 weeks of being pregnant although you may have to have more blood testing. The screening lab tests can help reassure you that your child has no diagnosed abnormalities, help offer you time to be equipped for the entrance of baby that has additional needs and permit you to come to a choice about maybe even terminating the being pregnant.

The testing can offer vital information for the good care you receive during your pregnancy. However no test can ensure your baby will be created lacking any abnormality of some kind as some abnormalities may continue to be undetected. In case your test comes home as high you might be offered pre-natal diagnostic exams. This is where they'll find how likely it is that your child will be given birth to with a suspected condition (will never be 100% exact).

The tests they used to diagnose during motherhood is known as the "combined test" this will include a blood test and ultrasound scan. An example of your blood vessels is considered and analyzed this is to check the levels of certain hormones and protein. If your blood test comes back which contains abnormal degrees of these chemicals (proteins and hormones), you will have an increased potential for having a baby with Down's syndrome. When you have an ultrasound check out (nuchal translucency) they'll measure the smooth behind the baby's neck the thickness of this fluid can help in determining whether or not your baby will probably have downs syndrome. If your child has a chance of this condition you may well be advised by the physician to acquire further lab tests. These tests is going to be Long-term villus sampling or amniocentesis (this will happen whilst the infant is in the womb). Both these tests carry difficulties 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 being pregnant. The sample is performed by passing a little needle through your stomach or vagina and neck of the guitar of your womb (cervix). The needle is guided into the appropriate position while having an ultrasound check. The test will be directed for trials and the results should come back to inform you of your child has Down's syndrome. The issues which can arise from this test are illness, severe bleeding and even miscarriage. 1 atlanta divorce attorneys 100women will miscarry following CVS.

Amniocentesis consists of a small test of the substance which surrounds the baby (amniotic substance) for closer exam. This test is usually carried out after 15 weeks of pregnancy and can be carried out up to week 22. The same way CVS is considered through the tummy will be used for this test and with an ultrasound scan. They'll use a syringe and have a sample of the fluid and will be sent for screening. The problems which can occur out of this is infections and problems for you or your baby. Gleam 1 in 100 potential for miscarriage the same with CVS.

When you are informed of the outcome of your testing you might find this difficult to deal with. Obviously you will see an impact on not only your lives but also going right through with the motherhood. 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 the. It will help to make the best decision if to carry on with the being pregnant.

After the birth of your baby (when you have gone in advance with the motherhood) is when the initial diagnosis is manufactured based after your baby's appearance. For a doctor to definitely diagnose Down's syndrome they eill execute a blood test called karyotype (that's where the chromosomes in the blood vessels are analysed) if the results keep coming back and it offers found your child comes with an extra 21 chromosome your child will be officially identified as having Down's syndrome.

Like I mentioned before there are three types of Down's syndrome and I am going to proceed through each one and explain what they are.

Trisomy 21(nondisjunction)

Trisomy 21 is when there can be an mistake in the cell section called "nondisjunction". Nondisjunction is because an embryo with three copies of the chromosome 21 rather than the standard two copies. In the normal process of duplication, the egg and the sperm start out with the normal 46 chromosomes. The egg and the sperm will undertake cell division this is where the 46 chromosomes are split into 50 percent and the egg and sperm cells end up with 23 each. If the egg and the sperm fertilize the baby will finish up with a whole set of chromosomes one half from the mom and the spouse from the daddy.

Sometimes though, an error occurs, when the 46 chromosomes are being divide. Sometimes the egg or the sperm could keep both copies of the chromosome 21 rather than just having one backup. When fertilized the baby will finish up with having 3 #21 chromosomes and this is named "trisomy 21" or Down's syndrome.

This is an average cell section.

23 chromosomes from the egg

and the sperm. Resulting, in

46 chromosomes.

This is Trisomy 21 starting

With the standard 46

chromosomes and cell

division which results in

47 chromosomes.


This kind of Down symptoms is triggered by rearranged chromosome material. Exactly like in trisomy 21 there are three #21 chromosomes, but one of the #21 chromosomes is mounted on another chromosome rather than being separate. The excess #21 chromosomes is what causes the health problems associated with Down's symptoms. In translocation Down symptoms the extra #21 chromosome might be mounted on #13 or #14 chromosome. A room filled with 100 Down syndrome babies you might not have the ability to pick out the main one who got translocation Down's symptoms.










(fastbleep. com)

How do these chromosomes get caught collectively? A chromosome is made up of two arms linked by the centromere. In humans the # 13, 14, 15, 21 and 22 have very brief arms and contains hardly any useful information, theses are called acrocentric chromosomes.


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