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Antenatal screening tests

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Introduction

Antenatal screening tests There are many antenatal tests that can be carried out during pregnancy which will offer reassurance to the parents. They involve monitoring the health of the mother and the baby throughout the pregnancy until the birth. As well assessing both the health of the mother and the unborn baby antenatal screening tests also detect any diseases which may affect the foetus or even any diseases which may cause complication with the baby once they are born. It is also important for these antenatal tests to take place as unborn babies are more at risk from developing diseases because they rely on their mother for protection as their immune systems are weak. Any problems that may occur during labour, before and after the birth of the baby as a result of a disease may be helped by these screening tests to solve any potential problems. Factors which could possibly increase the risk of an abnormality within the pregnancy include the age of the mother and her medical history as well as a family history of genetic conditions. The two main types of antenatal screening tests which detect abnormalities or problems with the foetus include amniocentesis and blood tests. An amniocentesis test is carried out to detect genetic disorders which include muscular dystrophy, haemophilia and sickle cell disorders. ...read more.

Middle

Muscular dystrophy is caused by missing genetic information that enables the muscles to develop there are chromosomes that are abnormal. The missing information in the genes prevents proteins being made that are needed for health muscles. There is not a single type of muscular dystrophy as the term means a group of genetic muscle disorders which all vary in age of when the occur and the muscles that the disorder attacks as well as the progression of the disorder. Although an antenatal amniocentesis test will be able show whether the unborn foetus has the muscular dystrophy gene, the amniocentesis test will not be able to show what type of muscular dystrophy the foetus has. It will also not show any symptoms of muscular dystrophy or how severe the type is. The amniocentesis test will check whether the foetus has normal or abnormal levels of enzymes. These enzymes are the proteins that cause chemical changes such as converting food to energy. Abnormal high blood levels of certain enzymes from muscle cells are present in many people with muscular dystrophy. The amniocentesis examines the chromosomes in the amniotic fluid and if abnormal levels of enzymes are present then there is a chance of muscular dystrophy. A positive test result for muscular dystrophy would be a muscle dysfunction or abnormality in the muscle fibre which release particular enzymes into ...read more.

Conclusion

As the red blood cells have changed shape from a spherical shape to a crescent shape less oxygen is able to be carried in the blood cells. People who are sickle cell disease can need regular blood transfusions throughout their lives. A bone marrow transplant is the only known cure for sickle cell disease. These transplants are risky procedures, and are offered to patients who have severe complications due to the sickle cell disease. The image to the left shows the normal red blood cells and the sickle cells. The blood cells that are affected by sickle cell anaemia are a different shape to the normal red blood cells. The antenatal test amniocentesis will test for sickle cell disease, which can also be known as sickle cell anaemia. Chromosomes from the fluid took from the amniotic sac are grown and examined to check if the sickle cell disease genes have been inherited. For sickle cell disease to be inherited the foetus must inherit two abnormal genes from the parents. For a positive test for sickle cell disease a sickle cell must be found when the amniocentesis test is done. A negative test result for sickle cell disease would mean the foetus does not have sickle cell disease. Although this negative test result could be a false negative however this is rare. ?? ?? ?? ?? ...read more.

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Here's what a teacher thought of this essay

4 star(s)

A very good essay on the subject of ante-natal screening. The writer has discussed the need for screening and several diseases that are tested for. However, they have fallen into the trap of describing the disease in a little too much detail.

The essay could be enhanced by discussing the pros and cons of the tests and the effect that they could have on the mother. Worth looking into.

****

Marked by teacher Sam Morran 08/10/2013

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