What tests are done on amniotic fluid?

Summary

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  • Amniocentesis is a prenatal procedure performed on a pregnant woman to withdraw a small amount of amniotic fluid from the sac surrounding the fetus.
  • The goal of amniocentesis is to examine a small amount of this fluid to obtain information about the baby, including its sex, and to detect physical abnormalities such as Down syndrome or spina bifida.
  • Amniocentesis is only performed on women thought to be at higher risk of delivering a child with a birth defect.

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  • During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude.

  • The abdominal muscles support the trunk, allow movement and hold organs in place by regulating internal abdominal pressure.

  • The type of pain felt in the abdomen can vary greatly.

  • Children may feel stomach pain for a range of reasons and may need treatment

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Amniocentesis is a test you may be offered during pregnancy to check if your baby has a genetic or chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome.

It involves removing and testing a small sample of cells from amniotic fluid, the fluid that surrounds the unborn baby in the womb (uterus).

When amniocentesis is offered

Amniocentesis is not offered to all pregnant women. It's only offered if there's a higher chance your baby could have a genetic condition.

This could be because:

  • an antenatal screening test has suggested your baby may be born with a condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome
  • you have had a previous pregnancy that was affected by a genetic condition
  • you have a family history of a genetic condition, such as sickle cell disease, thalassaemia, cystic fibrosis or muscular dystrophy.

It's important to remember that you do not have to have amniocentesis if it's offered. It's up to you to decide whether you want it.

A midwife or doctor will speak to you about what the test involves and let you know what the possible benefits and risks are to help you make a decision.

Find out about why amniocentesis is offered and deciding whether to have it

How amniocentesis is performed

Amniocentesis is usually carried out between the 15th and 20th weeks of pregnancy, but you can have it later if necessary.

It can be performed earlier, but this may increase the risk of complications of amniocentesis and is usually avoided.

During the test, a long, thin needle is inserted through your abdominal wall, guided by an ultrasound image.

The needle is passed into the amniotic sac that surrounds the foetus and a small sample of amniotic fluid is removed for analysis.

The test itself usually takes about 10 minutes, although the whole consultation may take about 30 minutes.

Amniocentesis is usually described as being uncomfortable rather than painful.

Some women describe experiencing a pain similar to period pain or feeling pressure when the needle is taken out.

Find out more about what happens during amniocentesis

Getting your results

The first results of the test should be available within 3 working days and will tell you whether Down's syndrome, Edwards' syndrome or Patau's syndrome has been discovered.

If rarer conditions are also being tested for, it can take 3 weeks or more for the results to come back.

If your test shows that your baby has a genetic or chromosomal condition, the implications will be fully discussed with you.

There's no cure for most of the conditions amniocentesis finds, so you'll need to consider your options carefully.

You may choose to continue with your pregnancy, while gathering information about the condition so you're fully prepared.

Find out more about having a baby that may be born with a genetic condition

Or you may consider ending your pregnancy (having a termination).

Find out more about the results of amniocentesis

What are the risks of amniocentesis?

Before you decide to have amniocentesis, the risks and possible complications will be discussed with you.

One of the main risks associated with amniocentesis is miscarriage, which is the loss of the pregnancy in the first 23 weeks.

This is estimated to occur in up to 1 out of every 100 women who have amniocentesis.

There are also some other risks, such as infection or needing to have the procedure again because it was not possible to accurately test the first sample.

The risk of amniocentesis causing complications is higher if it's carried out before the 15th week of pregnancy, which is why the test is only done after this point.

Find out more about the possible complications of amniocentesis

What are the alternatives?

An alternative to amniocentesis is a test called chorionic villus sampling (CVS).

This is where a small sample of cells from the placenta, the organ that links the mother's blood supply with her unborn baby's, is removed for testing.

It's usually carried out between the 11th and 14th weeks of pregnancy, although it can be performed later than this if necessary.

With CVS, the risk of miscarriage is similar to the risk of miscarriage for amniocentesis (up to 1 out of every 100).

As the test can be carried out earlier, you'll have more time to consider the results.

If you're offered tests to look for a genetic or chromosomal condition in your baby, a specialist involved in carrying out the test will be able to discuss the different options with you and help you make a decision.

Page last reviewed: 17 April 2019
Next review due: 17 April 2022

What tests are performed on amniotic fluid?

Amniocentesis is a test done during pregnancy to diagnose certain genetic disorders, birth defects, and other conditions in an unborn baby. The test is usually done between weeks 15 and 20 of pregnancy. Amniocentesis looks at a sample of amniotic fluid.

What are the test components of amniotic fluid analysis?

For genetic testing and chromosome analysis, foetal cells in the amniotic fluid are cultured and grown for several days in the laboratory, then are analysed. Biochemical tests, such as bilirubin and alpha-fetoprotein, and sometimes genetic tests can be performed directly on the amniotic fluid.

What happens if amniocentesis test is positive?

A positive result suggests that the fetus has the genetic problem tested for. Sometimes more tests are needed to confirm this. It may be necessary to perform genetic testing on a blood sample from the parents or do additional tests on the fetus.

Is amniotic fluid test painful?

Is amniocentesis painful? Amniocentesis is not usually painful, but you may feel uncomfortable during the procedure. Some women describe experiencing a pain similar to period pain or feeling pressure when the needle is taken out.