Pre-natal FAQs

Date: August 2016

Please see our website for up-to-date information: www.downs-syndrome.org.uk
Our Information Officers are happy to answer any questions you have and provide you with
further information - we talk to parents at any stage of pregnancy.
Call us on 0333 1212 300 to speak to an Information Officer or for a hard copy of this
document.

The Downs Syndrome Association is a source of balanced, accurate information and advice.

Screening Tests
What screening tests will I be offered by the NHS?

Screening for Downs syndrome is offered to pregnant women of all ages. The tests can
provide information about the chance of a baby having Downs syndrome. These tests use
blood samples taken from the mother, measurements taken from ultrasound scans or both to
work out this chance. The tests you will be offered depend on how many weeks pregnant you
are. A screening test can only provide you with information about the likelihood of having a
baby with Downs syndrome.

Do I have to take the tests?

No, it is your choice whether or not to take the tests. If you decide to take the tests, think
about why you are taking the test, what the test can tell you and what choices you may have
to make as a result of taking the test. You need to make informed choices that are right for
you. Health professionals are there to help, so feel free to ask them any questions you have
about screening before you decide whether to go ahead with or decline the tests.

The combined test offered in early pregnancy

The combined test uses the results of a blood test and an ultrasound scan to calculate the
chance of the unborn baby having Downs syndrome.

A blood sample taken from the mother between 10 weeks to 14 weeks + 1 day of pregnancy is
used to measure the amount of some substances that are found naturally in the mothers
blood. These substances are passed to the mother from the baby.

An ultrasound scan is carried out between 11 weeks + 2 days and 14 weeks + 1 day of
pregnancy. This scan measures the amount of fluid lying under the skin at the back of the
babys neck. This is called the nuchal translucency (NT) measurement. A computer program
then uses the results from the blood sample combined with the NT measurement to work out a
chance figure. In addition to the results from the blood sample and the NT measurement, the
program also uses the mothers age.

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Screening later in pregnancy

If it has not been possible to have the combined test in early pregnancy, you will be offered a
blood test between 14 weeks + 2 days to 20 weeks of pregnancy. This test looks at different
substances to those measured in early pregnancy. Like the combined test, a computer
program uses the results and the mothers details to work out a chance figure. These tests are
known as the quad (or quadruple) test.

What is considered to be a higher chance of having a baby with Downs syndrome?

If the screening test shows that the chance of the baby having Down's syndrome is between 1
in 2 and 1 in 150 this is called a higher chance result.

If the screening test shows that the chance of having a baby with Down's syndrome is lower
than 1 in 150, this is a lower chance result. A lower chance result does not mean there is no
chance at all of the baby having Downs syndrome.

If I have a higher chance figure does that mean that my baby has Downs syndrome?

No, only a diagnostic test can tell you for sure if your baby has Downs syndrome.

Do screening tests that are currently available from the NHS identify all babies with
Downs syndrome?

No, although some of the 750 babies with Downs syndrome born each year in the UK will have
been diagnosed pre-natally.

Non invasive pre-natal testing (NIPT)

Non invasive pre-natal testing (NIPT) for Downs syndrome involves a blood sample being
taken from the mother. The sample is sent to a laboratory, this may be in the UK or overseas.
The sample will be tested for the amount of cell-free fetal DNA (cffDNA) present, particularly
chromosome 21. The presence of an extra copy of chromosome 21 in the bodys cells is what
causes Downs syndrome. Cell-free fetal DNA originates in the placenta. Each chromosome has
strings of DNA that are specific to that particular chromosome. So by analyzing the DNA
strings that link to each chromosome, the amount of chromosome 21 in the blood sample can
be compared to the amount of the other chromosomes. The total amount of chromosome 21 in
the blood sample is then used to calculate the likelihood of the baby having Downs syndrome.

The test can also be used to look for Edwards syndrome and Pataus syndrome.

NIPT is an enhanced screening test, not a diagnostic test. NIPT can be carried out from 10
weeks of pregnancy. It is usually combined with an ultrasound scan.

Although NIPT is thought to be very accurate, it is possible for the results to be incorrect to
indicate a higher chance for Downs syndrome when the baby does not have Downs
syndrome, or fail to indicate a higher chance when the baby does have Downs syndrome. For
the time being an invasive diagnostic test (amniocentesis or CVS) is still required to confirm a
definitive diagnosis of Downs syndrome.

NIPT is not widely available on the NHS. There are a small number of NHS hospitals where
NIPT is available as part of research studies or pilots of the test; it can also be obtained
privately. Research is taking place to evaluate NIPT and whether or not it will be offered as
part of the national screening programme.

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My father had a relative with Downs syndrome; does this mean that I have a higher
chance of having a baby with Downs syndrome?

For around 99% of people, Down's syndrome occurs as a result of a chance happening at
around the time of conception. There are three types of Down syndrome: trisomy 21
(nondisjunction), translocation and mosaicism. 1% of people with Downs syndrome have a
very rare form which can be inherited. This only occurs in some cases of Downs syndrome
resulting from translocation. Relatives of a person who has this rare type of translocation have
an increased chance of being translocation carriers.

What happens next if I have a higher chance of having a child with Downs
syndrome?

Your midwife or doctor will discuss the screening test results with you and answer any
questions that you have. You will be offered a diagnostic test which can tell you whether your
baby has Downs syndrome or not.

Diagnostic Tests
What types of diagnostic test are available?

There are two diagnostic tests available chorionic villus sampling (CVS) and amniocentesis.
CVS can be performed from weeks 10 to 22 of pregnancy although it is usually performed
between weeks 11 and 13. Amniocentesis is usually carried out from week 15 of pregnancy.

Are the diagnostic tests safe?

These procedures are not completely safe because they are invasive. The overall chance of
having a miscarriage after CVS is about 1 to 2%. In other words, about one or two in every
100 women who have CVS will miscarry. For amniocentesis, the rate is about one in 100.
These figures vary slightly from hospital to hospital. If you would like to know the miscarriage
rates after CVS or amniocentesis in your hospital, please ask your doctor or midwife.

Do I have to take the diagnostic test? Should I take the diagnostic test?

If you do get a higher chance result from a screening test, your midwife or doctor should give
information and support. You will need time to make up your mind about what to do next. It is
your choice whether or not to take a diagnostic test.

If you are in this position it is important to understand that you have a difficult decision to
make. You have two options. You may feel that you dont want to know so you decide not to
have a diagnostic test.

The other option is to have the diagnostic test, knowing that this will slightly increase the
chance of miscarriage. Before you take the diagnostic test, you need to think about the choices
that you will have to make if you are given a positive diagnosis.

Sometimes it helps if you think about your chance of having a baby with Downs syndrome
alongside the chance of having a miscarriage if you take a diagnostic test.

If you have a positive diagnosis the knowledge your baby has Downs syndrome may inform
the management of your pregnancy and your birth plan in a helpful way.

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Arent most babies born with Downs syndrome born to older mothers?

Although the chance of having a baby with Downs syndrome increases with the mothers age,
babies with the syndrome are born to mothers of all ages. Over half of children with Down
syndrome are born to mothers under the age of 35 years.

How many children with Downs syndrome are born each year in UK?

One in every 1000 babies born in the UK is born with Downs syndrome. Approximately 750
babies with Downs syndrome are born in the UK each year.

Why do I have a higher chance/positive diagnosis?

Downs syndrome occurs in people of all races, religions and economic backgrounds and in all
countries around the world.

As yet, no one knows what causes the presence of the extra copy of chromosome 21. There is
no way of predicting whether a person is more or less likely to make an egg or sperm with an
extra chromosome. As far as we know, nothing done before or during pregnancy causes the
condition.

I have heard that people with Downs syndrome have a learning disability; can the
tests tell me the level of my unborn babys learning disability?

It is true that everyone with Downs syndrome will have a level of learning disability. However,
Downs syndrome affects each individual child in different ways so it is not possible to know
how the condition will affect the childs learning potential before birth. It is not possible to
predict how the child will develop or what the person might achieve either before or after birth.
Our helpline staff will be pleased to send you information about the lives of people with Downs
syndrome and guide you to information on our website.

I have had a pre-natal diagnosis or I already have a child with Downs syndrome,
what is the chance of having another baby with the condition?

Parents with one baby with Downs syndrome are usually told that the chance of having
another baby with Down's syndrome is 1 in 100. Very few families are known who have more
than one child with Down's syndrome. There are differences of opinion as to how the quoted
figure of 1 in 100 should be interpreted for older mothers who already have one child with
Down's syndrome.

If you are considering becoming pregnant again, you can ask your GP for a referral to your
local genetic counseling service. You can discuss the likelihood of having another baby with
Downs syndrome with a genetic counsellor.

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Resources
DSA

You will find lots of information and resources about people with Downs syndrome on the
DSAs website www.downs-syndrome.org.uk including the following publications

Continuing Pregnancy with a Diagnosis of Downs syndrome

http://www.downs-syndrome.org.uk/for-new-parents/being-pregnant/

Celebrating our Lives Adults with Downs syndrome

http://www.downs-syndrome.org.uk/for-people-with-downs-syndrome/celebrating-our-lives/

People with Downs syndrome Your Questions Answered

http://www.downs-syndrome.org.uk/download-package/people-with-downs-syndrome-your-
questions-answered/

You can download these from DSAs website or call us (Tel: 0333 1212 300) for hard copies.

ARC (Antenatal Results and Choices)

Website http://www.arc-uk.org/
Helpline: 0845 077 2290 (Mon to Fri 10.00 am to 5.30pm) or 0207 713 7486 via mobile.

NHS - Screening for Downs syndrome

http://www.nhs.uk/conditions/pregnancy-and-baby/pages/screening-amniocentesis-downs-
syndrome.aspx