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How common are birth defects?
An
international monitoring programme
shows that, across Europe, just over 2 per cent of babies are discovered
at birth to have a defect that will affect their ability to survive or function
normally. Some defects are often not discovered until later (eg deafness and
problems in walking), and these are not included in this figure.
There is considerable regional variation in the rate of defects seen at birth. Glasgow and Dublin have traditionally been black spots, with rates over 3 per cent, but these figures are falling. The number of babies actually born with defects is also markedly affected by the availability of prenatal screening, and the availability of voluntary termination of pregnancy in the case of severe abnormalities.
What form do defects take?
What causes birth defects?
Environment
Other factors
The Human Genome Project has worked out the normal sequence of
all genes found in people. In the future, this will be invaluable in teasing
out the relative roles of genetics and the environment in causing birth
defects.
What are the main environmental factors in causing birth
defects?
Several medical treatments pose the risk of birth
abnormalities.
Tetracycline antibiotics affect hard
tissue formation during the foetal period, affecting the long bones and teeth.
Some
anticonvulsant medicines used for
epileptics may also cause problems. Anyone on long-term medication who is
planning to become pregnant, or who has become pregnant, should discuss their
situation with their doctor.
Moderate alcohol use in pregnancy is a particularly tricky
problem. Many women who abuse alcohol may also have unhealthy lifestyles -
inadequate diet, smoking and lack of exercise, and this confuses the issue in
establishing the exact role of alcohol. However, excessive use of alcohol is
certainly damaging to the baby. Occasional use has not yet been clearly shown
to pose a risk. Current UK Department of Health guidance advocates no more than
one or two drinks once or twice a week. However, the decision on light drinking
must be a personal one. It is virtually impossible to guarantee anything as
completely 'safe' in pregnancy.
Smoking is bad for the development of the baby in a number of
ways. Pregnant women should not smoke under any circumstances.
Lack of something may be as damaging as the presence of
something. Extensive trials have confirmed that taking
folic acid before pregnancy can
reduce the number of spinal cord defects such as spina bifida.
In general, if potential and expectant mothers eat a healthy
and varied diet including fresh fruit and vegetables, and fish, this may well
reduce the likelihood of birth defects.
Vitamin supplements are also potentially useful, but care must
be taken to avoid too much vitamin A.
There is a clear association between poverty and birth
defects, and this may be related to diet as well as education.
Biological factors, including illnesses
Other viruses, such as cytomegalovirus and herpes simplex, can
also cause problems. Bacteria such as salmonella, present in undercooked meat
(especially chicken), and listeria (found in some cheeses), can cause problems
for the continuation of the pregnancy (rather than birth defects).
Physical factors (including radiation)
When is my baby most vulnerable?
The developing baby is particularly vulnerable to environmental
factors during a five-week period starting about three weeks after
fertilisation, and lasting till about the end of the eighth week after
fertilisation. (Note that pregnancy is usually timed from the last menstrual
period, which is generally about a fortnight before fertilisation. 'Three weeks
after fertilisation' therefore corresponds to the 'fifth week of pregnancy' and
'eight weeks after fertilisation' to the '10th week of pregnancy'.
This five-week interval is often called the 'sensitive period'
as it is crucial to normal development. Even within this period, the body
organs form at different times. Sometimes it is possible to estimate
retrospectively from the nature of the defect when the baby might have been
exposed to a possible environmental factor. The mother's medical history can
then be examined to see what she was exposed to over this period.
After the sensitive period, major physical malformations become
less likely. However, the developing baby is still at risk from environmental
hazards. During the remainder of development, tissues grow and mature, and
some, such as the teeth and bones, can be quite vulnerable. Most significant of
all is the development of the nervous system, particularly the brain. Here,
many complex connections are taking place throughout development, and these
also may be susceptible to environmental effects.
How can birth defects be detected in advance?
On rare occasions, a developing baby that is actually normal may
be suspected of having an abnormality.
Blood tests for expectant mothers are
also valuable. The 'triple test' is widely used. In this, levels of
alpha-fetoprotein, human chorionic gonadotrophin and oestriol in the mother's
blood are measured. Various abnormalities are associated with alterations in
their levels. However, the levels can also vary between individual women, and
such tests can only provide estimates of risks, rather than proof of the
presence or absence of an abnormality. Thus, mothers are often informed of the
size of the possible risk, and advised to seek further tests, as this screening
may still miss some problems.
A common further test is
amniocentesis, when a sample of the
fluid surrounding the baby is removed, and the cells in the fluid are checked.
This procedure poses a small risk of inducing a termination of
pregnancy.
What can be done about birth defects when they are detected?
However, advance detection of abnormalities can also lead to
better preparation at the time of birth. The parents may be better prepared
emotionally - and better informed. Surgical teams can also be ready to carry
out emergency procedures if the condition is immediately life
threatening.
Attempts have been made to correct abnormalities by surgery on
the babies before birth. While there have been some notable successes, there
have also been failures. Opening the womb alone can cause serious difficulties
for the mother, quite apart from the effect of the operation on the baby.
Technological advances should make foetal surgery more successful, but it is
likely to be reserved for serious conditions for some time.
Finally, people with birth disabilities often meet with a lack
of understanding and compassion, despite their brave efforts to lead rewarding
lives. A greater degree of understanding and tolerance by society in general
would be enormously beneficial.
Who is to blame?
How can we reduce the numbers of birth defects?
Medical advances can be expected to increase the range of
options open to parents when a problem is detected. The number of birth defects
is falling in Europe, and this seems likely to continue as part of generally
increasing health levels.
Environmental causes (including exposure to drugs, radiation
and illnesses) can be identified in about 10 per cent of birth defects. The
risk of exposure to such environmental factors often causes great concern,
although genetic causes are more common.
The exact causes of the remaining 65 per cent of defects are
currently unclear. Many of these defects arise from an interplay of genetic and
environmental factors. For instance, some babies may have a genetic
susceptibility to certain environmental factors. If exposed to such factors
during development, they may develop an abnormality. If they are not exposed to
the factor, they will be perfectly normal. Another baby exposed to the same
environmental factor, but who doesn't have the genetic susceptibility, may be
entirely normal. This can make it difficult to pin down the exact cause of a
defect.
There are three main kinds of factor that can cause defects:
chemical, biological and physical.
The rubella virus, which causes
German measles, poses a serious hazard
to the developing baby. It can cross the placenta and attack the baby to cause
a range of defects. The proportion of mothers infected with the rubella virus
during the first 12 weeks of pregnancy who have an abnormal child can reach 20
per cent. This is why it is so important to make sure that everyone is
vaccinated against
rubella.
X-rays and radiation given as cancer
therapy can affect the baby. Your medical carers will be very cautious about
giving you an abdominal X-ray if you are pregnant or potentially pregnant (this
means almost every woman of child-bearing age!). With proper shielding, X-rays
can be given to other parts of the body during pregnancy, in the case of
emergencies.
The time at which the developing baby is exposed to a possibly
damaging environmental factor is more important in determining the nature of
the likely abnormality than the nature of the factor itself. In fact, if babies
are exposed to the same damaging factor at different times in their
development, the nature of the damage is likely to be different. Conversely, if
babies are exposed to different damaging factors at the same stage in
development, the damage caused may well be similar. For instance, exposure to
the rubella virus at three weeks after fertilisation may cause heart defects,
and at six weeks after fertilisation, it may cause deafness. Exposure to, say,
radiation at three weeks may cause similar damage to rubella. Examples of a
specific factor always causing a single specific defect are less common than is
generally thought.
Diagnosis of birth defects has been revolutionised by the
widespread use of
ultrasound. Ultrasound scanning seems
to be very safe in normal use. Properly used, this can currently detect about
50 per cent of abnormalities before birth. Spina bifida can be diagnosed very
accurately, as can major external abnormalities such as defects of the wall of
the abdomen
For many serious defects detected before birth,
termination of pregnancy is presently
the only option other than non-intervention. This is a difficult ethical choice
for many people. However, it has had a significant impact. In Glasgow and
Dublin, detection of spinal cord defects during pregnancy are similar. Yet more
than twice as many children with spinal cord defects are born in Dublin than in
Glasgow, because voluntary termination of pregnancy is illegal in the Irish
Republic.
Having a child with a serious abnormality can be a shattering
event for many couples. They may suffer from irrational feelings of guilt,
believing that they are to blame for the problem. Equally, they may deflect
blame by blaming others, eg doctors. The question of responsibility may become
entangled with legal liability. However, parents are not to blame in any way
for the great majority of birth defects. Indeed, no one may be to blame for
what may represent a tragic accident
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. The materials in this web site cannot and should not be used as a basis for diagnosis or choice of treatment. Conditions for use