Why is the Amniocentesis test carried out?

The amniocentesis test is carried out to detect possible defects or abnormalities in the developing foetus; in some cases, conditions can be treated before the baby is born if they are detected early on. It is an individual choice whether or not to have the test; some women wish to know if their baby has got a defect or abnormality, while others don’t want to find out.

If you find out that your baby has got a defect or abnormality, you can start to prepare for life with a child that may require additional help and you can start to process the fact that your life will probably be very different to how you thought it would be. If the condition is treatable, you can also enable your baby to be treated while it is still developing.

Understandably, some women decide not to have the test and this is a personal choice.

What can the test detect?

The amniocentesis test enables experts to assess the development of the foetus and check their DNA for any signs of genetic problems and disorders. The test can be used to detect the following conditions:

  • Chromosomal conditions: these include Down’s syndrome (which is caused by an extra chromosome called trisomy 21), Edward’s syndrome (caused by an extra chromosome called trisomy 18) and Patau’s syndrome (caused by an extra chromosome called trisomy 13)
  • Neural tube defects: these are birth defects, which occur as a result of the neural tube not developing normally. The neural tube eventually develops into the spine and the nervous system. The most common example of a neural tube defect is spina bifida.
  • Blood disorders: the amniocentesis test can detect inherited blood disorders, including sickle cell anaemia and thalassaemia (an inherited condition which affects the ability to make red blood cells)
  • Musculoskeletal conditions: the test can detect inherited musculoskeletal problems including muscular dystrophy.
  • Genetic conditions: other genetic conditions, including Marfan syndrome can also be detected by the amniocentesis test.
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