Screening tests
for you and your baby
Important information for you to keep
with your hand-held maternity records
Version 6
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Contacts
If you are not up to date with cervical screening or you missed
your test during your pregnancy then arrange to
have the test done at 13 weeks post delivery.
In the busy time after the baby is born remember to
look after your own health too.
• For antenatal and newborn screening programmes:
www.screening.nhs.uk/an
• For antenatal results and choices charity: www.arc-uk.org
• For comments about people’s experiences: www.dipex.org/
antenatalscreening
• Contact a Family charity: www.cafamily.org.uk
For more information on screening tests, talk to your midwife, doctor or
health visitor. You can also visit the following websites.
We hope you will find this booklet useful. Please keep it safe with your
maternity notes.
Towards the end of your pregnancy your midwife will talk to you about the
screening tests recommended for newborn babies. You should look at this
booklet again at this stage.
Some of the tests need to take place as early as 10 weeks in pregnancy, so
you should read this booklet as soon as possible.
Please read this booklet as it will help prepare you for discussions with your
midwife or doctor and will help you ask the questions that are important to
you. It will be helpful if you have the booklet with you when you see them.
The UK National Screening Committee gives the health departments of the
four UK countries advice on all aspects of screening.
It is important you understand the purpose and possible results of the
screening tests before you decide whether to have them. To help you the
UK National Screening Committee has written this booklet, explaining the
screening tests in detail.
This booklet is about the screening tests you will be offered while your are
pregnant and screening tests for your baby in their first few weeks.
It would help if you have this booklet handy
when you see health professionals at home
or in hospital.
Using this booklet
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There are also other, less common, haemoglobin disorders. Many of these are
not as serious.
People with thalassaemia major:
• are very anaemic (their bodies have difficulty carrying oxygen)
• need blood transfusions every four to six weeks, and
• need injections and medicines throughout their lives.
Thalassaemia major
People with sickle cell disease:
• can have attacks of very severe pain
• can get serious, life-threatening infections
• are usually anaemic (which means that their bodies have difficulty carrying
oxygen), and
• need medicines and injections when they are children and throughout the
rest of their lives to prevent infections.
Sickle cell disease
Sickle cell disease and thalassaemia major are serious, inherited blood
disorders. They affect haemoglobin, a part of the blood that carries oxygen
around the body. People who have these conditions will need specialist care
throughout their lives.
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In the first few weeks of your pregnancy, we will
offer you a blood test for sickle cell and thalassaemia.
This chapter describes the screening process. It explains why
we offer the test and helps you decide whether to accept it.
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Carriers are healthy and do not have
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But if a carrier has a baby with
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How are they passed on?
Screening involves a simple blood
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What tests are involved?
Father who came forward for testing
“If you’re discovered to be a
carrier it doesn’t affect your
general health.”
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The test gives important information
for your baby’s health
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The test can benefit you and
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What will the results tell me?
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Are there any risks?
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The diagram below shows the chances
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parents having a child with a sickle cell
or thalassaemia disorder.
What if my baby’s father is
also a carrier?
Why should my baby’s
father have a test?
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Questions?
Testing for new babies
Is there a further test?
“The lady at the centre was
really, really helpful. She was so
nice and she talked us through
everything and the chances of
us having a sickle cell baby and
everything. And then l made up
my mind l was going to have
those tests done...”
A pregnant woman who sought
counselling about being a carrier
UK Thalassaemia Society
19 The Broadway, Southgate Circus
London NI4 6PH
Phone: 020 8882 0011
Email: office@ukts.org
Website: www.ukts.org
Sickle and Thalassaemia
Association of Counsellors (STAC)
South West London Sickle Cell
and Thalassaemia Centre,
Balham Health Centre,
120 Bedford Hill, Balham,
London SW12 9HP
Phone: 020 8700 0615
Email: info@stac.org
Website: www.stacuk.org
Sickle Cell Society
54 Station Road,
London NW10 4UA
Phone: 020 8961 7795
Email: info@sicklecellsociety.org
Website: www.sicklecellsociety.org
Other organisations
Sarah, who accepted screening
when she became pregnant.
“I think people should
definitely ask to have the
screening because if both
parents are carriers, and if the
child does have the disorder,
it can have very serious
consequences. It would be
better to know about your
options in advance.”
Visit the website of the NHS Sickle Cell and Thalassaemia
Screening Programme at www.screening.nhs.uk/sickleandthal
Read about people’s real-life experiences of sickle cell and
thalassaemia screening like the ones shown in this leaflet.
Visit www.dipex.org/sicklecellandthalassaemia
More information
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Although syphilis is rare in the UK,
testing is recommended during
pregnancy because of the serious
damage it can do to you and your
baby. It can be cured by treatment
with antibiotics (usually penicillin),
which will also treat infection in
the unborn baby. If you do have
syphilis, your baby will also be
treated with antibiotics after
birth to make sure he or she is not
infected. Although most people
who have syphilis are only ill for
a short time, it can eventually
have very severe effects (such as
brain damage) if it is not treated.
If it is passed to the unborn baby
it often results in miscarriage or
stillbirth, or the baby being born
early and severely ill. Almost all
syphilis infections in the UK are
caught by having unprotected sex,
with a person who is infected.
If you have syphilis, your partner
should also be offered a test.
15
Rubella (German Measles)
Syphilis
16
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Data protection and guaranteeing quality in
the Down’s syndrome screening programme
❉ All pregnant women in England are now offered tests for
Down’s syndrome. This booklet gives you some information
about Down’s syndrome and about testing for it, so you can
decide whether to have the tests.
❉ Choosing whether or not to have these tests is an important
decision for you and your baby. You need to make the decision
that is right for you, so please read this booklet carefully.
❉ Your midwife or your GP will talk to you about testing for
Down’s syndrome. They will be happy to answer your questions
– so please do ask if there is anything you are not clear about.
Choosing whether to have the tests is an
important decision, for you and for your baby.
This chapter gives you some information about Down’s
syndrome and about testing for it, so you can decide
whether to have the tests.
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How common is Down’s syndrome?
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What is Down’s syndrome?
17
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Should l have the tests for Down’s syndrome?
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What causes Down’s syndrome?
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What information does a screening test give me?
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Will the tests tell me for certain if my baby has
Down’s syndrome?
19
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Women who are not offered more tests
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The combined test offered in early pregnancy
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What is chorionic villus sampling (CVS)?
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What can you tell me about diagnostic tests?
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What happens if I get a low-risk result, so I am not
offered more tests?
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How will I get the result from my screening test?
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What is amniocentesis?
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How long does it take to get the results?
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5,1.,//!?@E3?E*J!E1ME:I!@F,31@EM3IE@*3I/ EF/.EF3EM3I?E
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Are the tests painful?
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K!E 31=FE3$$!?EF*!0EF3E!J!?M3 M9E*!E3J!?//E?,@.E3$EM3IE
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Are these procedures safe?
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?!@I/F@E?!E13FE/!?9E $EF*,@E*55!1@EM3IEK,//E!E3$$!?! EE
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0MEK1FEF3E ,@I@@EF*!E?!@I/F@EK,F*E@30!3 M9E*!ME
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EJ!?ME?,!$E!L5/1F,31E31E5)!EH"9E $EM3IE?!//ME 31=FE
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!, !EK*3E@*3I/ E!E3$$!?! EE ,)13@F,EF!@F9E*FE
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3$E5FF!?1E,1EM3I?E/33 EF!@FE3?EI/F?@3I1 E?!@I/F@9E*,@E
5FF!?1E,@E31!EF*FE1E@30!F,0!@E!E@!!1EK*!1EEME
The baby does not have Down’s syndrome
What are the possible results from
diagnostic tests?
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M3IEK1FEF3E?!!,J!EF*!E?!@I/F@9E*!E*1!@E?!EF*FE
M3I?E?!@I/F@EK,//E@*3KEF*FEM3I?EME 3!@E13FE*J!E
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,@I@@EK*FE,@E55?35?,F!E$3?EM3IEK,F*EM3I?E0, K,$!9
How will I get my results?
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F*?!!E M@9
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*!MEF*!1E*J!EF*?!!E35F,31@E1 E,FE,@E!1F,?!/MEF*!E
5?!1F@=E !,@,31EK*,*EF*!ME*33@!9E30!E5!35/!E
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5/1@E1 E5?!5?!E$3?E1ME!LF?E*//!1)!@EF*!ME0,)*FE
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The baby has Down’s syndrome
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5?3/!0EM3IEK,//E!E?!$!??! EF3EE)!1!F,E3I1@!//3?E
$3?E@5!,/,@FE,1$3?0F,31E1 E@I553?F9
The baby does not have Down’s syndrome, but
the tests have shown some other problem
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Antenatal Results and Choices (ARC)E
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$3?EM3I9E3IEK,//E*J!EF*!E3553?FI1,FMEF3E ,@I@@EM3I?E
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29
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Down’s Syndrome Medical Interest GroupE
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Down’s Syndrome Association
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EF,31/E?!!1,1)E300,FF!!9EFetal Anomaly
Screening Programme – Screening for Down’s Syndrome:
UK NSC Policy Recommendations 2007–2010: Model of
Best Practice.E!5?F0!1FE3$E!/F*E 31 31EHOO"9
!/,.3K,FNE 9EDown Syndrome The Facts,EG? E! 19E
L$3? E1,J!?@,FME?!@@E!KE3?.EHOO"9
31 /E E!?!?E E !/E 9EDown’s Syndrome: A Review
of Current Knowledge. *I??EI/,@*!?@E 31 31E42229
!KF31E9EThe Down’s Syndrome Handbook: A Practical
Guide for Parents and Carers.E1 30E3I@!E 31 31E
HOO(9
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NHS Fetal Anomaly Screening ProgrammeE
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31
32
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Is the mid-pregnancy scan safe?
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Why am I offered a mid-pregnancy scan?
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What kind of scan will I be offered?
An ultrasound
scan is an
important
examination.
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This scan (sometimes called the 18+0 to 20+6
weeks fetal anomaly scan) is offered as part of
the NHS ‘fetal anomaly’ ultrasound screening
programme. This chapter gives you some
information about the purpose of the ultrasound
scan in mid-pregnancy between 18 weeks and 0
days to 20 weeks and 6 days, so you can decide
whether or not to have this examination.
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What can a scan tell me about my baby’s health and
development?
Giving permission for the scan
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M3IE 3E1!! EF3E.13KE@3E5/!@!E?! EF*,@E@!F,31E?!$I//M9
Does everybody have a scan?
33
34
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Anencephaly
Gastroschisis
Diaphragmatic
hernia
Cleft lip
Open spina bifida
Description
Problem
Edwards’ syndrome
(Trisomy 18)
2"8
Patau’s syndrome
(Trisomy 13)
Lethal skeletal
dysplasia
Bilateral renal
agenesis
Serious cardiac
abnormalities
Exomphalos
Problem
CO8
B&8
2O8
Chance
of being
seen
2"8
What are the chances that we will be able to see it on an
ultrasound scan?
L305*/3@E3I?@EK*!1EF*!E
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Description
2&8
2&8
CO8
"(8
&O8
Chance
of being
seen
"O8
35
36
Can I bring family or friends with me
when I have the scan?
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*,/ ?!1EF3EFF!1 EF*!E@?!!1,1)EF!@F@E@E*,/ ?!E$,/,F,!@E?!E13FE
I@I//MEJ,//!9E/!@!E@.EM3I?E*3@5,F/E$3?E,F@E53/,ME31EF*,@E!$3?!E
M3I?E553,1F0!1F9
usually takes
around 30
minutes.
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The scan
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53@,F,31E3?E,@E03J,1)E?3I1 EE/3F9E $EM3IE?!E3J!?K!,)*FEF*,@E1E?! I!E
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)33 E,0)!EF*!E@1E0MEF.!E/31)!?E3?E*J!EF3E!E?!5!F! EFEE
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How long will my scan take?
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)33 EJ,!KE3$EF*!EME#E!,F*!?E ,?!F/ME$,1)EF*!0E3?EFE1E1)/!9
3@FE@1@E?!E??,! E3IFEME@5!,//MEF?,1! E@F$$E//! E@313)?5*!?@9E
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?3I1 EM3I?E/3F*,1)EF3E5?3F!FE,FE$?30EF*!EI/F?@3I1 E)!/EK*,*EK,//E
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@!1 @E3IFEI/F?@3I1 EKJ!@E1 E5,.@EF*!0EI5EK*!1EF*!ME3I1!E.9
What will happen when I go into the scan room?
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!$3?!EM3IE30!9E $EM3IE?!E13FE@I?!EM3IE1E31FFEF*!0E1 E@.9
Do I need to drink water and have a full bladder before
my scan?
37
38
-3?E@F?IFI?/E13?0/,F,!@E,1EF*!E !J!/350!1FE3$EF*!EME@I*E@E
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If a problem
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is found or
31 ,F,31E!$3?!E,?F*9
suspected,
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@?!!1,1)E5?3)?00!EIFEF*,@E !5!1 @E31EF*!E53/,ME3$EM3I?E*3@5,F/9E
opinion.
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Sometimes scan
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results can be
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uncertain and the
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sonographer may
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ask for a further
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Will I need another scan?
1E?!@I/F@E1 E%1 ,1)@
3IEK,//E1!! EF3E*!.E,$EM3I?E*3@5,F/E5?3J, !@EF*,@E@!?J,!9E $EF*!ME 3E
F*!?!E0ME!EE*?)!9
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1E/@FEF*?3I)*3IFEF*!E?!@FE3$EF*!E5?!)11M9
$E1!!@@?MEM3IEK,//E!E?!$!??! EF3EE@5!,/,@FE53@@,/ME,1E13F*!?E
*3@5,F/9E3IE@*3I/ E!E),J!1E1E553,1F0!1FEK,F*,1EE$!KE M@9
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!EF3/ EK*FEF*!E31!?1@EK!?!EIFEF*!E!LFE5?3/!0E0,)*FE13FE!E
/!?EFEF*,@E@F)!9
What will happen if a problem is found, or suspected,
during the scan?
you might be
offered further
tests.
What kind of problems can be seen?
Will the sonographer tell me the sex of my baby?
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MEE0, +5?!)11ME@19E*,@E0!1@EF*FE,1E@30!E@!@E,!@E?!E3?1E
K,F*E13?0/,F,!@EK*!1E13E5?3/!0EK@E, !1F,%! EMEF*!E@19
3@FE@1@E@*3KEF*FEF*!EME,@E !J!/35,1)E13?0//ME1 E13E5?3/!0@E
?!E$3I1 9E*,@E,@E!I@!E03@FE,!@E?!E*!/F*ME1 E 3E13FE*J!E
13?0/,F,!@9
Can I have a picture of my baby?
Will the scan say for certain whether or not there is a problem?
If everything appears normal, what happens next?
39
40
Can anything be done before the birth?
,1 ,1)E3IFE3IFEE31 ,F,31E!$3?!E,?F*E1E*!/5E
5?!1F@E5?!5?!EF*!0@!/J!@E1 E@30!F,0!@E,FE1E*!/5EF3E5/1EF?!F0!1FE
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$F!?E,?F*9
scan.
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Not every
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problem can
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be seen on a
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*!/5E1 E@I553?FE?!E),J!1E31E5)!@E(4E
mid-pregnancy
1 E(H9
*,@E !5!1 @E31EF*!EFM5!E3$E13?0/,FME1 E*3KE@!?,3I@E,FE,@9E30!E
13?0/,F,!@E0MEFI?1E3IFE13FEF3E!E@!?,3I@E1 E@30!E)!FE!FF!?E31E
F*!,?E3K19E 1E!,F*!?E3$EF*!@!E@!@EM3IE0ME!E3$$!?! E$I?F*!?E@1@E
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What will happen if a type of abnormality is definitely found?
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$3?E!?F,1E,$EF*!?!E,@EE5?3/!09E $EM3IE?!E3$$!?! E$I?F*!?EF!@F@EM3IEK,//E!E
),J!1E03?!E,1$3?0F,31E3IFEF*!@!EF!@F@9E3IE1EF*!1E*33@!EK*!F*!?E
3?E13FEM3IEK1FEF3E*J!EF*!09
31FFEE0,/ME,@EE*?,FMEK*,*E5?3J, !@E@I553?FE J,!E1 E
,1$3?0F,31E$3?E$0,/,!@EK,F*E ,@/! E*,/ ?!1E13E0FF!?EK*FEF*!,?E
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Contact a Family (CAFAMILY)
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1E13?0/,FM9
41
If you
would prefer not
to know, you need
to think carefully
about whether you
should have a
scan at all.
Antenatal Results and Choices (ARC) KKK9?+I.93?)
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31 31
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Who can I talk to if I have any
questions or concerns about the
mid-pregnancy scan?
1$3?FI1F!/ME31/MEEJ!?ME$!KE5?3/!0@E1E!E
F?!F! E,1EF*,@EKM9
Can the baby have an operation before it is born?
42
?,.!?E E?,E E!1 !?@31E E I)$3? E E!,/@31E E3!?F@EE ?F,1E
9E/F?@3I1 E@?!!1,1)E,1E5?!)11MEE@M@F!0F,E?!J,!KE3$EF*!E/,1,/E
!$$!F,J!1!@@E3@FE!$$!F,J!1!@@E1 EK30!1=@EJ,!K@9EHealth Technol
Assess 2000; 4: 1–193.
,?K1EE1 EF*!EE!F/E130/ME?!!1,1)E?3)?00!E679E18+0
to 20+6 Weeks Fetal Anomaly Scan – National Standards and Guidance for
England. EEL!F!?EHO4O9
*!EE!F/E130/ME?!!1,1)E?3)?00!E,@E?!@531@,/!E$3?E3F*EF*!E
E!F/E130/ME/F?@3I1 E?!!1,1)E?3)?00!E1 EF*!E3K1=@E
@M1 ?30!E?!!1,1)E?3)?00!E$3?E1)/1 9
3M/E3//!)!E3$E@F!F?,,1@E1 EM1!3/3),@F@E679ERoutine
Ultrasound Screening in Pregnancy: Protocol, Standards and Training –
Supplement to Ultrasound Screening for Fetal Abnormalities – Report of
the RCOG Working Party. E?!@@E 31 31EHOOO9
3M/E3//!)!E3$E@F!F?,,1@E1 EM1!3/3),@F@E679EUltrasound
Screening for Fetal Abnormalities – Report of the RCOG Working Party.
E?!@@E 31 31E422B9
F,31/E 1@F,FIF!E$3?E!/F*E1 E/,1,/EL!//!1!E6 79EAntenatal
Care: Routine Care for the Healthy Pregnant Woman – Clinical Guideline
6. F,31/E3//3?F,1)E!1F?!E$3?E30!1=@E1 E*,/ ?!1=@E!/F*E
EF3!?EHOOG9
1EK?,F,1)EF*,@E33./!FEK!E?!$!??! EF3EF*!E$3//3K,1)E 3I0!1F@
References
NHS Fetal Anomaly Screening Programme
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43
44
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Why should I have my baby examined?
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EK*3EK,//E??MEF*!0E3IFA
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EK*!?!EF*!E?!@I/F@EK,//E!E?!3? ! AE1
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*!.@9E3IEK,//EF*!1E!E3$$!?! EE03?!E !F,/! E5*M@,/E
!L0,1F,31E3$EM3I?EMEwithin 72 hours of birth and
again at six to eight weeks old.E*!@!E!L0,1F,31@E
,1/I !EE@?!!1,1)E!L0,1F,31EF3E%1 EF*3@!E,!@E
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K*MEF*!E!L0,1F,31E,@E?!5!F! EFE@,LEF3E!,)*FEK!!.@9
What is the physical examination?
An introduction to physical
examinations of newborn
babies and those aged
six to eight weeks
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Where will the examinations be
carried out?
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Who will do the examinations?E
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45
46
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How can I prepare for the examinations?
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How are the examinations carried out?
47
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31 ,F,31@EF*FE0ME!E$3I1 EMEF*!E5*M@,/E
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What the results may mean for parents
and babies
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The checklist asks you to think about the following.
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Where will the results be recorded?
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What happens after the examinations?
Testicles:
Eyes:
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50
(Mother of screened baby)
“The test is straightforward
and quick. She slept right
through it.”
Your baby will be offered a series of routine health
In the first few weeks of your baby’s life, you will be
checksoffered
in the first
few routine
weeks of
life. This
will
a –a
another
health
check
forinclude
your baby
hearinghearing
screening
test. The
testThe
uses
quick
simple
screening
test.
test
usesand
quick
and simple
methodsmethods
to checktothe
hearing
of all newborn
babies. babies.
check
the hearing
of all newborn
3I?EM=@E!?,1)EE
Your baby’s hearing
?!!1,1)E!@Fscreening test
Yes. It is important to screen
all babies. Most babies born
with a hearing loss are born
into families with no history
of hearing loss.
No one in my family has a
hearing loss. Does my baby
still need to have the hearing
screening test?
Early identification is known
to be important for the
development of the child. It
also means that support and
information can be provided
to parents at an early stage.
One to two babies in every
1000 are born with a hearing
loss in one or both ears.
This hearing screening test
will allow those babies who
do have a hearing loss to be
identified early.
Why screen my
baby’s hearing?
No. It does not hurt and is not
uncomfortable. The screening
test will usually be done while
your baby is asleep or settled.
Will the hearing screening
test be painful for my baby?
Your baby will be offered the
hearing screening test within
the first few weeks of life.
The hearing screen is usually
done before you leave the
maternity unit. In some areas
it will be carried out at home.
Your midwife or the person
that gave you this leaflet will
be able to tell you where
and when the screening test
will happen. If your baby’s
hearing is not screened, ask
your health visitor, midwife,
local audiology department
or family doctor to arrange
an appointment.
When will the hearing
screening test be done?
51
52
The results will be given
to you at the time of the
screening test. If you have
any concerns or questions
about your baby’s result
When will l get the
results of the hearing
screening test?
A trained hearing screener
or your health visitor carries
out the hearing screening
test. They place a small
soft tipped earpiece in the
outer part of your baby’s ear
which sends clicking sounds
down the ear. When an ear
receives sound, the inner
part, known as the ‘cochlea’
usually produces an echo.
The screening equipment
can pick up this response.
This is called the Automated
Otoacoustic Emission (AOAE)
screening test. The AOAE
screening test only takes a
few minutes. You can stay
with your baby while the
screening test is done.
What does the hearing
screening test involve?
Children can develop or
acquire a hearing loss later
on, so it is important to
check your child’s hearing as
they grow up. Two checklists
of the sounds that your
baby should react to and the
types of sounds they should
make as they grow older are
included on page 60. If you
have any concerns about
your child’s hearing, discuss
them with your health
This means that your
baby is unlikely to have
a hearing loss. The NHS
Newborn Hearing Screening
Programme is a very reliable
way of detecting hearing
loss early.
What do the results mean if
the hearing screening test
shows a clear response from
both of my baby’s ears?
contact the hospital where
the screening test was done
or if your baby was screened
at home, contact your
health visitor.
This means your baby
needs a second hearing
screening test.
What do the results mean
if the hearing screening
test does not show a clear
response from one or both
of my baby’s ears?
visitor or family doctor. Your
child’s hearing can be tested
at any age.
• your baby may have fluid
or a temporary blockage in
the ear after birth.
This is very common and will
pass with time.
• there may have been
background noise when the
screening test was carried
out; or
• your baby may have
been unsettled at the time
of screening;
Some common reasons, other
than hearing loss, for having
a second screening test are:
A lot of babies need to have a
second hearing screening
test because the first screen
didn’t show a clear response
from one or both of the
baby’s ears. This does not
necessarily mean that your
baby has a hearing loss.
Why does my baby
need a second hearing
screening test?
53
54
The second screening test
may be the same as the
first screening test, the
Automated Otoacoustic
Emission (AOAE) screening
test. Your baby may also
have another type of
screening test. This is known
as the Automated Auditory
Brainstem Response (AABR)
screening test.
What does the second
screening test involve?
If your baby’s first screening
test was carried out at
home, your health visitor
will arrange a further
appointment with you.
Your baby’s second screen
will usually be done before
you leave the hospital.
In some areas it may be
done in a local surgery
or health clinic.
Where will the second
screening test be done?
Neither of these screening
tests will hurt or be
uncomfortable for your
baby. They will usually be
carried out while your baby
is asleep or is very settled.
The AABR screening test
can take between 5 and
30 minutes. You can stay
with your baby while the
screening test is done.
The hearing screening
equipment tells us how well
your baby’s ears respond to
sound. The AOAE screening
test takes a few minutes.
This involves three small
sensors being placed on
your baby’s head and neck.
Soft headphones, specially
made for babies, are placed
over your baby’s ears and a
series of clicking sounds
are played.
• Ensure you have the
things that you may need to
make your baby comfortable
and happy.
• If possible, feed your baby
shortly before the hearing
screening test.
The screening test is easier
to carry out if your baby
is asleep. Don’t worry if
your baby will not settle.
The Hearing Screener will
understand that it is difficult
to get a young baby to sleep.
The following may help your
baby to settle during the
screening test.
What can I do to prepare
my baby for the second
screening test?
Most babies are found to
have no hearing loss after
the second screening test
but it is still very important
that your baby has the
second screen. This is
because babies who have
a hearing loss will usually
react to some sounds. If your
baby does have a hearing
loss it is important that you
find out as soon as possible.
My baby seems to be
responding to sound. Does
my baby need a second
hearing screening test?
55
56
If you have any concerns
about your child’s hearing,
discuss them with your
health visitor or family
doctor. Your child’s hearing
can be tested at any age.
You can use the two
checklists of the sounds that
your baby should react to
and the types of sounds they
should make as they grow
older. These checklists are on
pages 60 and 61.
You will be given a leaflet
explaining what this
involves.
There may be a number
of other reasons why the
second screen could not
record a clear response from
one or both of your baby’s
ears. Further tests by an
audiologist will give you
better information about
your baby’s hearing.
If the second screening
test does not show a clear
response from one or both
of your baby’s ears you will
be referred to your local
audiology department.
They will carry out special
tests to measure your baby’s
hearing. Again, this often
happens and does not
necessarily mean your baby
has a hearing loss.
This means that your baby
is unlikely to have a
hearing loss.
Remember that children
can develop or acquire a
hearing loss later on, so it
is important to check your
child’s hearing as they
grow up.
What happens if the
second screening test does
not show a clear response
from one or both of my
baby’s ears?
What do the results mean
if the second hearing
screening test shows a clear
response from both of my
baby’s ears?
Nationally, about one in
25 babies whose second
screening test does not
record clear responses may
have a hearing loss in one or
both ears. Finding out that
your baby has a hearing loss
early means that you and
your baby will get advice
and support right from
the start.
Most babies will record clear
responses to sound at the
second screening test and at
the further tests carried out
by an audiologist. However,
there is a possibility that
your baby may have a
hearing loss.
What is the likelihood of
my baby having a hearing
loss if the second screening
test does not record
clear responses?
(Mother of screened baby)
“Daniel is my second
little boy and it was
amazing. He had his
hearing check really
soon after I had him.”
57
58
For information and support
about your child’s hearing,
contact the National Deaf
Children’s Society
Freephone Helpline
on 0808 800 8880
(10am to 5pm Mon-Fri),
or send an email to
helpline@ndcs.org.uk
or visit the website:
www.ndcs.org.uk
For more information about
your baby’s hearing screening test contact:
The NHS Newborn Hearing
Screening Programme has a
website that provides further
information:
www.hearing.screening.nhs.uk
You can also find out more
from your health visitor,
midwife or local audiology
department.
Where can I get further
information?
If you would like more
information about your
baby’s hearing screening test,
you can contact the hospital
that will carry out the test.
59
60
4 months - a baby
quietens or smiles to the
sound of familiar voice
even when unable to see
speaker and turns eyes or
head towards voice. Shows
excitement at sounds (e.g.:
voices, footsteps etc).
1 month - a baby
starts to notice sudden
prolonged sounds like the
noise of a vacuum cleaner
and may turn towards the
noise. Pauses and listens to
the noises when they begin.
Shortly after birth - a baby
is startled by a sudden loud
noise such as a hand clap or
a door slamming. Blinks or
opens eyes widely to such
sounds or stops sucking or
starts to cry.
REACTION TO SOUNDS
CHECKLIST
These two lists give
pointers about what to
look and listen out for as
your baby grows to check
if he/she can hear. Babies
do differ in what they can
do at any given age, The
ages presented here are
approximate only.
Adapted from: The ‘Can Your Baby
Hear You’ form, B. McCormick,
1982,Chiidren’s Hearing Assessment
Centre, Nottingham, UK.
If at any stage in the baby
or child’s development you
think he/she may have
difficulties hearing, contact
your health visitor or
family doctor.
12 months - a baby
shows some response to own
name. May also respond
to expressions like ‘no’
and ‘bye bye’ even when
any accompanying gesture
cannot be seen.
9 months - a baby
listens attentively to
familiar everyday sounds
and searches for very quiet
sounds made out of sight.
7 months - a baby
turns immediately to a
familiar voice across the
room or to very quiet
noises made on each side
(if not too occupied with
other things).
15 months - a baby
makes lots of speechlike sounds. Uses 2-6
recognisable words
meaningfully (e.g.: ‘teddy’
when seeing or
wanting the teddy bear).
12 months - a baby
babbles loudly, often in a
conversational-type rhythm.
May start to use one or two
recognisable words.
9 months - a baby
makes sounds to
communicate in friendliness
or annoyance. Babbles (e.g.:
‘dada da’, ‘ma ma ma’, ‘ba
ba ba’). Shows pleasure
in babbling loudly and
tunefully. Starts to imitate
other sounds like coughing
or smacking lips.
6 months - a baby
makes laughter-like sounds.
Starts to make sing-song
vowel sounds (e.g.: a-a,muh,
goo, der, aroo, adah).
4 months - a baby
makes soft sounds when
awake. Gurgles and coos.
MAKING SOUNDS
CHECKLIST
Adapted from: M. D. Sheridan
(Revised by M. Frost and A.
Sharma), 1997, Routledge, London,
New York.
36 months - a child
has a large vocabulary
intelligible to everyone.
30 months - a child
uses 200 or more
recognisable words. Uses
pronouns (e.g.: I, me, you).
Uses sentences but many
will lack adult structure.
Talks intelligibly to self
during play. Asks questions.
Says a few nursery rhymes.
24 months - a child
uses 50 or more recognisable
words appropriately. Puts 2
or more words together to
make simple sentences (for
example: more milk). Joins
in nursery rhymes and songs.
Talks to self during play (may
be incomprehensible
to others).
18 months - a baby
makes speech-like sounds
with conversational-type
rhythm when playing. Uses
6-20 recognisable words.
Tries to join in nursery
rhymes and songs.
61
62
Most babies screened
will not have any of the
conditions but, for the
small number that do,
the benefits of screening
are enormous. Early
treatment can improve
their health and prevent
severe disability or
even death.
Newborn blood spot
screening identifies
babies who may
have rare but serious
conditions.
Why should l
have my baby
screened?
In the first week
after birth, you
will be offered a
blood spot
screening test
for your baby.
In the first week after birth, you will be offered a
blood spot screening test for your baby.
!K3?1E/33
E53Fscreening
Blood spot
?!!1,1)E$3?E3I?EM
for your newborn baby
If babies are not screened and are later found to have CHT, it may be
too late to prevent them becoming seriously disabled.
Screening means that babies with CHT can be treated early with
thyroxine tablets, which will prevent serious disability and allow them
to develop normally.
About one in 4,000 babies born in the UK has congenital
hypothyroidism (CHT). Babies with CHT do not have enough of the
hormone thyroxine. Without this hormone, they do not grow properly
and can develop a serious, permanent, physical and mental disability.
Congenital hypothyroidism
If babies are not screened, but are later found to have PKU, it may be
too late for the special diet to make a real difference.
Screening means that babies with the condition can be treated early
through a special diet which will prevent severe disability and allow
them to lead a normal life.
About one in 10,000 babies born in the UK has phenylketonuria (PKU).
Babies with this inherited condition cannot process a substance in their
food called phenylalanine. If untreated, they will develop a serious
permanent mental disability.
Phenylketonuria
If a baby is thought to have one of the conditions, he or she
will need further tests to confirm this. These conditions are
explained below.
All babies are offered screening for phenylketonuria, congenital
hypothyroidism, cystic fibrosis, sickle cell diseases and
medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
What are newborn babies screened for?
63
64
Section 251 of the NHS Act 2006. Section 251 approval has been given for our audit team to access sickle cell
www.nigb.nhs.uk/ecc.
and thalassaemia screening data under strict conditions. You can find more information on this at
1.
If babies are not screened for CF and they do have the condition, they
can be tested later but parents may have an anxious time before CF
is recognised.
Screening means that babies with CF can be treated early with a
high-energy diet, medicines and physiotherapy. Although a child with
CF may still become very ill, early treatment is thought to help them live
longer, healthier lives.
About one in 2,500 babies born in the UK has cystic fibrosis (CF).
This inherited condition can affect the digestion and lungs. Babies with
CF may not gain weight well, and frequently have chest infections.
Cystic fibrosis
More information on this work is available at sct.screening.nhs.uk/newborn
screening.nhs.uk/contactus
you will be able to speak to someone in a language of your choice or at sct.
email at Radoslav.latinovic@nhs.net or by telephone 020 7848 6634 where
contact the sickle cell and thalassaemia screening programme:
If you do not wish your baby’s screening data to be used in this way please
the National Information Governance Board1.
data obtained from sickle cell and thalassaemia screening is governed by
monitor and improve screening for sickle cell and thalassaemia. The use of
Identifiable data may be stored by the screening programme and used to
baby’s result and the result will be sent to your healthcare professional.
What happens to your baby’s data after screening? You will be told your
Screening means that babies with SCD can receive early treatment,
including immunisations and antibiotics, which, along with parent
education, will help prevent serious illness and allow the child to live a
healthier life.
About one in 10,000 babies born in the UK has MCADD. Babies with
this inherited condition have problems breaking down fats to make
energy for the body. This can lead to serious illness, or even death.
About one in 2,000 babies born in the UK has a sickle cell disease (SCD).
These are inherited diseases that affect the red blood cells. If a baby has
a sickle cell disease, their red blood cells can change to a sickle shape
and become stuck in the small blood vessels. This can cause pain and
damage to the baby’s body, serious infection, or even death.
Occasionally, other medical conditions might be identified through
these screening tests.
Screening identifies babies who are genetic carriers of sickle cell
or other unusual red blood cell disorders. Carriers of sickle cell
disorders are healthy and will not be affected by the condition.
Screening for cystic fibrosis (CF) includes testing some babies for the
most common gene changes that cause CF. This means screening
may identify some babies who are likely to be genetic carriers of
cystic fibrosis. These babies may need further testing to find out if
they are a healthy carrier, or have CF.
Will screening for these
conditions show up anything else?
Screening babies for MCADD is important so the condition can be
identified before the babies become suddenly and seriously ill.
Screening means that most babies who have MCADD can be
recognised early. This allows special attention to be given to their
diet, including making sure they eat regularly. This care can prevent
serious illness and allow babies with MCADD to develop normally.
MCADD (medium-chain acyl-CoA dehydrogenase deficiency)
Sickle cell diseases
65
66
If you have any concerns about your baby’s screening, please ask
your midwife or GP.
Screening your baby for all these conditions is strongly
recommended, but you do not have to have it carried out. If you
do not want your baby screened for any or all of these conditions,
discuss it with your midwife. All your decisions will be recorded in
your notes.
Screening is recommended
Occasionally the midwife or health visitor will contact
you and ask to take a second blood sample from your
baby’s heel. This may be because there was not enough
blood collected, your baby’s NHS number was not
recorded on the blood spot card, the result was unclear,
or your baby was born early or had a blood transfusion
before the test. Your midwife or health visitor will
explain the reason to you. It is important that a repeat
test (if needed) is done so that all the tests have been
completed. Usually the repeat results are normal.
Are repeat blood samples
ever needed?
cuddling and being ready to feed your baby
making sure your baby is warm and comfortable
You can help by
About a week after your baby’s birth the midwife will prick your
baby’s heel using a special device to collect some drops of blood onto
a card. The heel prick may be uncomfortable and your baby may cry.
How will the midwife take the blood spots?
The purpose of screening is to identify
babies more likely to have these conditions.
Screening is not 100% accurate.
If you move home while you are waiting for the results of your
baby’s screening test, please tell your midwife or health visitor
your new address.
Some babies are found to be carriers. Their parents will
usually be told by the time the child is 6-8 weeks old.
If a baby is thought to have sickle cell disease (SCD), parents
will usually be contacted before the baby is 6 weeks old.
If a baby is thought to have cystic fibrosis (CF), parents will
usually be contacted before the baby is 4 weeks old.
If a baby is thought to have phenylketonuria (PKU),
congenital hypothyroidism (CHT) or MCADD parents will
usually be contacted before the baby is 3 weeks old and given
an appointment to see a specialist.
Most babies will have normal results, indicating that they
probably do not have any of the conditions. You should
receive the screening test results from a health professional
by the time your baby is six to eight weeks old. The result of
the screening should be recorded in your baby’s personal
child health record (often referred to as their ‘red book’).
Please keep this safe.
How will I hear about the results?
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In the future there is a small chance researchers may want to invite you
or your child to take part in research linked to this screening programme.
If you do not want to be invited to take part in research, please let your
midwife know.
The use of these blood spots is governed by the code of practice available
from your midwife, or on the website at:
www.newbornbloodspot.screening.nhs.uk
For research to help improve the health of babies and their families in
the UK. This research will not identify your baby, and you will not
be contacted.
To improve the screening programme
To check the result or for other tests recommended by your doctor
After screening, newborn babies’ blood spots are stored for at least five
years and may be used for the following:
What happens to your baby’s
blood spots after screening?
• For information from the UK Newborn Screening Programme
Centre, visit www.newbornbloodspot.screening.nhs.uk
• For Antenatal Results and Choices visit www.arc-uk.org
• For Contact a Family charity visit www.cafamily.org.uk
• For a directory of personal experiences visit www.dipex.org
• Phone NHS Direct on 0845 4647 or visit www.nhsdirect.nhs.uk
• For general health advice and information, see the following.
• For more information about Hearing screening see the information
panel on page 58
• For information about all aspects of antenatal and newborn screening
and the sources of information available to parents
www.screening.nhs.uk/an
Your midwife, health visitor, GP or screener will be able to provide you
with more information. You may find the following websites useful:
Don’t hesitate to talk to a health professional at any time, before or
after the examinations or tests, if you are worried about your baby.
Where can I go for
more information?
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Notes
Notes
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Website address:
Date of publication:
Review date of publication:
Leaflet code:
Telephone ordering:
NSC Office address:
www.screening.nhs.uk
May 2010
May 2011
041072YAYB
0300 123 1002
National Screening Committee
Quarry House
Quarry Hill
Leeds
LS2 7UE
© 201
10 National Screening Committee