Amniocentesis is a prenatal diagnostic test performed in pregnancy. It is used to test for chromosomal abnormalities such as Down syndrome. It involves passing a needle through the skin of the mother, through the wall of the uterus (womb) and taking a small sample of the fluid surrounding the developing baby. The needle does not touch the baby. The cells in the fluid can be used to investigate the baby’s genetic material.
Amniocentesis can tell you if your pregnancy has missing, damaged, or extra chromosomes. These are signs of a genetic disorder. Amniocentesis also can tell you whether your pregnancy has a specific disorder caused by a genetic mutation
It may be recommended if you have an increased risk of having a baby with a birth defect. For example if you have:
1. Had a screening test that shows an increased risk of a birth defect
2. A genetic disorder
3. A child with a genetic disorder
4. A family history of a genetic disorder
5. Any structural defect on ultrasound
You can discuss all of the testing options and your individual risk factors before deciding on whether or not to have the test.
Amniocentesis is usually done between 15 and 20 weeks of pregnancy, but it can be done later.
You would have to come with your husband/relative for the procedure. Prior to the procedure, you would be explained the procedure with its benefits and risk. You would be asked to sign a written consent.
You may be asked to empty your bladder before the procedure.
Like an ultrasound examination, you would be asked to lie down on a couch. Your tummy would be cleaned by antiseptic.
A very thin needle is inserted through the abdomen (belly) and into the uterus guided by ultrasound.
A small sample of amniotic fluid is withdrawn from the sac surrounding the fetus. This fluid contains cells that have been shed by the fetus.
The sample is sent to a lab for testing.
After the needle is removed and the baby is checked, you will be able to leave the room. You will need to lie down for 30-60 minutes or so and then you can go home.
Most women say that amniocentesis is uncomfortable rather than painful. Some say it feels something like period pain. You may feel anxious before and after the test. You may notice some cramping for a few hours afterwards.
Amniocentesis being an invasive procedure, carries a small(1 in 200) risk of miscarriage, bleeding or leaking from vagina post procedure.
There is a risk of less than 1 in 1,000 that amniocentesis will cause a serious infection.
It is not always possible to get a result from the first amniocentesis. In that case you would be offered a second procedure.
The results depends on the type test that is done on the amniotic fluid sample. It may range from 3days to 1 month. You may also get the results stepwise if multiple tests are requested.
If your blood group is Rh (rhesus) negative, it will be recommended that you have an injection of anti-D immunoglobulin before the procedure to prevent you from developing antibodies against your baby’s blood cells.
If you have HIV, hepatitis B or hepatitis C viruses, Amniocentesis might increase the risk that you pass this on to your baby. You are expected to get screened for these viruses before the procedure. If you screen positive for any of these, your options and further care would be discussed.