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List of Diagnostic test
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Alpha Feto-protein (AFP)

What is the AFP test

This is a blood test that measures the amount of alpha-foeto protein (AFP) in the mother’s blood and the amniotic fluid. It is generally performed in the 15th to 18th week of pregnancy. High levels of AFP could indicate that the baby has a neural tube defect (NTD). This defect manifests itself as spina bifida (deformity of the spinal column) or anencephaly (the absence of all or part of the brain). Abnormally low levels could be a sign of increased risk of Down’s syndrome or other chromosomal defect. 95% of the time there is no past family history of these conditions. 
 

How accurate is the AFP test

The drawback of this test is that abnormally high or low levels of AFP in the blood do not necessarily indicate that your baby will have a birth defect. Statistics show that while only 1 to 2 women in a 1000 have a foetus with a neural tube defect (NTD), about 50 of these women will demonstrate high levels of AFP in their blood when tested. Thus, to make a positive diagnosis, further testing such as amniocentesis and a sonogram becomes necessary. An elevated level of AFP in the amniotic fluid is associated with a 90 % chance that the foetus has NTD.

Amniocentesis

What is amniocentesis and how is it performed

This test is helpful in diagnosing birth defects such as neural tube defect (NTD), including anencephaly (failure of brain formation) and spina bifida (open spine).  A small sample of the fluid in which the baby lies is drawn off through a needle.  The test measures the amount of fetal protein both in the mother’s blood as well as in the amniotic fluid surrounding the baby. 
 

For whom is amniocentesis advised

An amniocentesis is usually advised for women in the following high risk category for birth defects: 

  • Women over 35 (since the risk of Down’s syndrome is very high)
  • Women with three or more miscarriages
  • If either parent or sibling has a known chromosomal abnormality or a hereditary disease
                                
                                     
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