8

This is only a brief guide to the amniocentesis test. More information

can be obtained from your local regional genetics centre
(www.geneticalliance.org.uk/services.htm) or from these addresses: The Amniocentesis
Antenatal Results and Genetic Alliance UK
Choices (ARC) Unit 4D, Leroy House,
73 Charlotte St., 436 Essex Rd.,
London, London, N1 3QP
W1T 4PN Telephone: 0207704 3141
Tel: 020 7631 0285 Provides information about
Providing support and specific genetic conditions and
information for women during the contact details of support
antenatal testing process. organisations.
info@arc-uk.org mail@geneticalliance.org.uk
www.arc-uk.org www.geneticalliance.org.uk
Unique - EuroGentest
The Rare Chromosome Free-access website providing
Disorder Support Group information about genetic
PO Box 2189, testing and links to support
Caterham, groups across Europe.
Surrey www.eurogentest.org
CR3 5GN
Telephone: 01883 330766 Orphanet
info@rarechromo.org Free-access website providing
www.rarechromo.org information on rare diseases and
orphan drugs, and links to
Modified from leaflets produced support groups across Europe.
by Guy’s and St Thomas’ www.orpha.net
Hospital, London; the Royal
College of Obstetricians and Gynaecologists www.rcog.org.uk/index.asp?
PageID=625 and London IDEAS Genetic Knowledge Park according to their quality
standards.

January 2007

This work was supported by EuroGentest, an EU-FP6 supported NoE contract

number 512148

Information for Patients and Families

Illustrations by Rebecca J Kent
www.rebeccajkent.com
rebecca@rebeccajkent.com
2 7
The Amniocentesis To help you make the decision which is best for you, you should
discuss the following information with your doctor:
The following gives you information about the amniocentesis. It
tells you what an amniocentesis is, when and how it is done, • Information about the condition being tested for.
what happens after the test, and possible benefits and risks of
taking the test. This leaflet is designed to be used alongside the • The risk that the baby has the genetic condition you are
discussions you have with your health care thinking of testing for.
professionals and help you to ask the questions that are
important to you.
• Information about the test and what the results will tell you.

What is the amniocentesis? • The reliability of the test.

The amniotic sac is the bag of fluid in which the baby floats in • The risk of having an uncertain result and having to take the
the womb. Amniocentesis is a way of taking some of the fluid in test again.
that sac for genetic testing during pregnancy. It is most
commonly used to check the baby’s genes or chromosomes for • The risk of miscarriage.
specific genetic conditions. It may be offered to you for a
number of reasons. • How long it will take to get the test results.
• You are an older mother (35 years or older) and therefore • How you will get the test results.
have an increased risk of having a child with a genetic
condition such as Down syndrome.
• Your options if the baby is found to have a genetic condition.
• You or your partner has a genetic condition which may be
passed on to the baby.
How the experience may affect you and your partner
There is a genetic condition in you or your partner’s family,
•
emotionally.
•
and there is a risk that the condition may be passed on to
the baby.
These are some of the issues you should think about before
You have had a previous child affected by a genetic
making a decision about the amniocentesis test. You can also
•
condition.
look at the ‘Frequently Asked Questions’ leaflet, which lists a
You have had another type of test that is done during
number of questions you might want to ask the doctor about
•
pregnancy (such as an ultrasound, nuchal translucency
genetic testing. It has been developed by people who have
scan or blood test). It has shown that there is an increased
risk that your baby has a genetic condition. been through a similar experience to your own.

Bring any questions or concerns with you to your appointment –

When is the amniocentesis done? write them down. If you need an interpreter, let the department
know.
Amniocentesis is usually done after 15 weeks of pregnancy.
6 3
What if the result shows the baby has a genetic How is the amniocentesis done?
condition?
Amniocentesis involves taking a small amount of the amniotic
If the result shows the baby has a genetic condition, the doctor fluid that surrounds the baby in the womb. First, an ultrasound
will discuss what this means and how this could affect your scan is done to check the position of the baby and the placenta
baby. They will discuss with you if there is a cure or treatment (or after-birth). The skin over the womb area is then cleaned
available. They will talk about your options and sometimes the with antiseptic solution. Next, a fine needle is passed through
possibility of ending the pregnancy. They will help you consider the skin and the abdomen (the tummy or belly) into the womb,
what is best for you and the baby. Very occasionally the test will and a syringe is used to remove a sample (about 15mls or 3
uncover an unusual chromosome arrangement where the teaspoonfuls) of the fluid that surrounds the baby. The fluid
impact on the baby will be unclear. surrounding the baby contains some of the baby’s skin cells
and these can be examined in the laboratory to check the
HIV infection baby’s genes and chromosomes. Very occasionally, the health
professional performing the test is unable to get enough fluid at
If you are HIV positive, there is a small risk that the the first attempt and may need to re-insert the needle.
amniocentesis might cause the HIV virus to be passed on to
your baby. It is important therefore that if you are HIV positive
you discuss this with your midwife or doctor as measures need
to be taken to minimise the risk of transmission to your baby
during the amniocentesis.

Making a decision about the amniocentesis

Making a decision about having an

amniocentesis test during pregnancy
can be difficult. It is important to
remember that you do not have to
take the amniocentesis test if you do
not want to. You should only have an
amniocentesi s if you and your
partner feel that it is important for
you to have the information which
the test can provide, and do not feel
the risks are too great for you to
take.
4 5
Is the amniocentesis painful? laboratory about 7 to 10 days after the amniocentesis. If this
happens, you will be notified and offered another test.
Most women consider amniocentesis to be uncomfortable but
not really painful. It is usually over in a few minutes. Some Can all genetic problems be detected with the
women get a tightening feeling in the womb afterwards, or may amniocentesis?
feel a little soreness for one day. This is not unusual.
Test results usually only provide information about the condition
What will happen after the amniocentesis? that was tested for. Occasionally the test may uncover results
relating to other conditions. There is no general test for all genetic
The test itself should only take a few minutes. It is a good idea conditions.
to bring a companion with you for support both during and after
the test. You should take things easy for a couple of days after How long will it take to get the results of the
the test. Avoid any heavy lifting or strenuous exercise. If you amniocentesis?
have abdominal discomfort which lasts longer than 24 hours, or
if you have fever, or if you have any unusual vaginal discharge The time it takes to receive the results depends on which
or vaginal bleeding, you should let your doctor know. condition is being tested for. For some conditions it will only take
3 days to get the test results. For others it will take 2-3 weeks. If
What are the risks of the amniocentesis? the result takes longer than this, it
does not necessarily mean that
Up to 1 woman in 100 (1%) will have a miscarriage as a result something unusual has been found, it
of having an amniocentesis. We do not really know why this may mean that the cells are taking a
happens. However 99 out of 100 pregnancies (99%) should longer time to grow.
continue normally. Other than this, there is no evidence that
amniocentesis is harmful to your baby. If you are having an amniocentesis for
a rare genetic condition, ask the
Is the amniocentesis reliable? doctor how long it will take to get the
results back.
You should discuss with the doctor the accuracy of the
particular genetic test that you are considering, as this will differ When the test results are ready you
depending on the type of change in the genes or chromosomes may be called back to speak to the
for which the test is being done. doctor, or you may be given the
results another way, such as by
Occasionally (1 in 100 samples) there are not enough cells telephone. You should discuss this
obtained from the amniocentesis for the test to be done on that with the doctor at the time of the test.
sample. When this happens, it is usually obvious in the