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Why do we
screen babies?
Newborn blood
spot screening identifies babies who may have rare but serious conditions.
The vast majority of 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.
What rare
conditions do we screen for?
All babies in
England are screened for:
MCADD
Phenylketonuria
Congenital Hypothyroidism
Sickle Cell disorders
Cystic Fibrosis
There may be
variances in Northern Ireland, Wales and Scotland in the rare disorders that
babies are screened for. In some areas babies are also screened for some
other conditions. If you want to confirm which conditions are screened for
in your area, please ask your midwife.
MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency)
About 1 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. Screening means that most babies who have
MCADD can be recognised early, allowing 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. Screening
babies for MCADD is important, so those with the condition can be identified
before they become suddenly and seriously ill.
Phenylketonuria
About 1 in
10,000 babies born in the UK has phenylketonuria (PKU). Babies with this
inherited condition are unable to process a substance in their food called
phenylalanine. If untreated, they will develop serious, irreversible, mental
disability. 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. 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.
Congenital hypothyroidism
About 1 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 serious, permanent, physical and mental
disability. Screening means that babies with CHT can be treated early with
thyroxine tablets, which will prevent serious disability and allow them to
develop normally. If babies are not screened and are later found to have CHT,
it may be too late to prevent them becoming seriously disabled.
Sickle
cell disorders
About 1 in
1,900 babies born in the UK has a sickle cell disorder (SCD). These are
inherited disorders that affect the red blood cells. If a baby has a sickle
cell disorder, 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. 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.
Cystic Fibrosis
About 1 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 have frequent chest infections. Screening means that babies
with CF can be treated early with a highenergy 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. 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.
Will screening for these conditions show up anything else?
Screening for
cystic fibrosis (CF) includes testing some babies for the most common gene
alterations 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.
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. Rarely, other conditions
such as beta thalassaemia major can be identified. In this condition, the
baby does not make enough red blood cells, and needs treatment for severe
anaemia.
How will the midwife take the blood spots?
About a week
after 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.
Are repeat blood samples ever needed?
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, or the result was unclear. Usually the repeat results are
normal.
Screening is recommended
Screening
your baby for all these conditions is strongly recommended, but it is not
compulsory. 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. If you think your baby might not have been screened,
speak to your midwife or GP.
How will I hear about the results?
Most babies
will have normal results, indicating that they are not thought to have any
of these conditions. A health professional will usually let parents know the
screening result and record it in the baby’s personal child health record by
the time the child is 6-8 weeks old.
§
If a baby is thought to have MCADD,
parents will be contacted before the baby is 7 days old and given an
appointment to see a specialist
§
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
phenylketonuria (PKU), parents will be contacted before the baby is 3
weeks old and given an appointment to see a specialist.
§
If a baby is thought to have congenital
hypothyroidism (CHT), parents will be contacted before the baby is 3
weeks old and given an appointment to see a specialist.
§
If a baby is thought to have cystic
fibrosis (CF), parents will be contacted before the baby is 4 weeks old.
§
If a baby is thought to have a sickle cell
disorder (SCD), the parents will be contacted before the baby is 6 weeks
old.
If a baby is
thought to have one of the conditions, he or she will need further tests to
confirm the
result.
The purpose
of screening is to identify babies more likely to have these conditions.
Screening is
not 100% accurate.
What
happens to your baby's blood spots after screening?
After
screening, newborn blood spots are stored for at least five years and may be
used in a number of ways:
■ To check
the result or for other tests recommended by your doctor
■ To improve
the screening programme
■ For public
health monitoring and research to help improve the health of babies and
their families in the UK. This will not identify your baby and you will not
be contacted.
The use of
these blood spots is governed by a Code of Practice, available from your
midwife, or www.screening.nhs.uk/bloodspot In the future there is a small
chance researchers may want to invite you or your child to take part in
research linked to the blood spot programme. If you do not wish to receive
invitations to take part in research please let your midwife know.
Why we
need a newborn screening programme
The national
newborn screening programme was introduced in 1969 for phenylketonuria (PKU)
and in 1981 for congenital hypothyroidism (CHT). Today, newborn screening is
one of the largest screening programmes in the UK and each year over 700,000
newborns are screened. The newborn blood spot screening programme has been,
and remains, a very successful screening programme and the uptake of
screening tests is high with local figures showing that more than 99% of the
babies born each year are being screened.
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