Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
1. 5
Fetal alcohol
syndrome
Before you begin this unit, please take the INTRODUCTION TO FETAL
corresponding test at the end of the book to
assess your knowledge of the subject matter. You ALCOHOL SYNDROME
should redo the test after you’ve worked through
the unit, to evaluate what you have learned.
5-1 What is fetal alcohol syndrome?
Fetal alcohol syndrome (FAS) is a recognisable
Objectives clinical disorder which presents with clinical
features that include:
When you have completed this unit you 1. Abnormalities in appearance.
should be able to: 2. Delayed growth and development.
• Define fetal alcohol syndrome. 3. Congenital malformations.
• Understand that alcohol can damage Fetal alcohol syndrome can often be recognised
the fetus. at birth although it is more easily recognisable
• Recommend no alcohol intake during in childhood. It is a typical example of a birth
defect caused by a teratogen.
pregnancy.
• List factors which influence the blood
alcohol concentration. Fetal alcohol syndrome can often be recognised
• Recognise an infant with fetal alcohol at birth.
syndrome.
NOTE Fetal alcohol spectrum disorders
• Understand their pattern of growth and include alcohol-related birth defects,
development. alcohol-related neurodevelopmental
• Plan the care of an infant with fetal disorders and fetal alcohol syndrome, as
well as partial fetal alcohol syndrome.
alcohol syndrome.
• Understand the prevention of fetal
alcohol syndrome.
2. 84 BIR TH DEFECTS
5-2 What is the cause of fetal high population prevalence of fetal alcohol
alcohol syndrome? syndrome. However, the research needed to
recognise the problem has not yet been done.
Drinking of alcohol by the mother during a
pregnancy. Fetal alcohol syndrome cannot
5-5 Which communities have a high
occur if a woman does not drink any alcohol
rate of fetal alcohol syndrome?
during her pregnancy or if she only drinks
alcohol before or after the pregnancy. Fetal alcohol syndrome is most frequent in
communities where poverty, low maternal
NOTE Fetal alcohol syndrome is caused by education, unemployment and heavy or binge
exposure of the embryo and fetus to ethyl alcohol. drinking are common.
Fetal alcohol syndrome is caused by drinking
alcohol during pregnancy. THE CAUSE OF FETAL
ALCOHOL SYNDROME
5-3 Can fetal alcohol
syndrome be inherited?
5-6 How can alcohol taken during
No. Fetal alcohol syndrome is not a genetically pregnancy damage the fetus?
inherited condition. It is caused by alcohol,
i.e. a teratogen (something which damages Alcohol is a poisonous substance (teratogen),
the fetus). However, there can be a number of which, if drunk by the mother during
individuals with fetal alcohol syndrome in a pregnancy crosses the placenta and can
family (e.g. mother and child, or siblings) due interfere with the normal growth and
to the excessive use of alcohol in that family. development of the embryo and fetus.
Both the amount (dosage) and the time
5-4 Is fetal alcohol syndrome common? (stage of pregnancy) that alcohol is drunk are
important. Alcohol is most damaging to the
While it is estimated that 1 in a 1000
embryo in the period of organ development
infants have fetal alcohol syndrome in most
between 17–6 days after conception, but also
industrialised countries (e.g. USA, UK, France,
harms the developing fetus from 6 days to
Sweden) there is concern that the rate of alcohol
delivery. The timing and amount of alcohol
abuse is increasing and some children with fetal
drunk will determine which organs are
alcohol syndrome are not being recognised.
damaged and the degree of damage.
In South Africa fetal alcohol syndrome is
A past history of heavy alcohol drinking in
common. In communities in the Western
a woman who does not drink during her
and Northern Cape provinces of South Africa
pregnancy cannot cause fetal alcohol syndrome.
the population prevalence of fetal alcohol
syndrome in children attending their first year
of school is more than 50 per 1000 children, 5-7 Does drinking alcohol during
i.e. 30 times commoner than Down syndrome. pregnancy always damage the fetus?
This is one of the highest reported rates for fetal No. Not all women who drink during
alcohol syndrome in a community in the world. pregnancy have a child with fetal alcohol
In Soweto the incidence is 20/1000 children. syndrome but the risk in South African
An estimated 1.4% of all South African infants women who drink heavily during pregnancy is
are born with fetal alcohol syndrome. greater than 50 percent.
NOTE Other developing countries where
women abuse alcohol may also have a similarly
3. FETAL ALCOHOL SYNDROME 85
5-8 How much alcohol is needed 5-11 How much alcohol is in one drink?
to damage the fetus?
One drink is defined as 15 ml of absolute
Any amount of alcohol that a woman drinks alcohol which is equivalent to a glass of wine
during pregnancy may be harmful to her (150 ml) or a can of beer (300 ml) or a tot of
fetus. The more alcohol she drinks, the spirits (25 ml). A quart of beer (the largest
greater is the chance that she will have an container commercially sold and measuring
infant with fetal alcohol syndrome. 750 ml) is equivalent to 2.5 drinks and a
standard bottle of wine (750 ml) is the same
as five drinks. An estimate of what a person
Even small amounts of alcohol are not safe is drinking must be calculated from the
during pregnancy. history, taking care to understand what size of
container the woman is using.
One or two drinks a day is regarded as light
drinking, three to five drinks a day is moderate NOTEBeer contains 5% alcohol, wine about
drinking while more than five drinks a day is 10% and spirits approximately 30–40%.
heavy drinking. Moderate or heavy drinking
may damage the fetus. However, any amount of 5-12 Are all alcoholic drinks
alcohol carries a risk of damaging the fetus. It dangerous to the fetus?
is not known what mild effects may be caused
Yes. The risk of alcohol damaging the fetus
by light drinking as these are difficult to detect
depends on the amount of absolute alcohol
(e.g. a reduction in IQ or minor behaviour
taken and NOT the type of drink (e.g. whisky,
problems). A woman does not need be an
beer, homebrew and wine). There are no
alcoholic for her drinking to damage her fetus.
alcoholic drinks which are safe during
pregnancy.
5-9 What is binge drinking?
This is defined as drinking more than five
All forms of alcohol are dangerous during
alcoholic drinks at a single occasion. In many
South African communities, this is the usual
pregnancy.
way alcohol is taken and occurs mostly over
weekends. The risk of fetal alcohol syndrome 5-13 When is it most dangerous to
is particularly high with binge drinking drink alcohol during pregnancy?
during pregnancy.
Drinking alcohol is most dangerous between
Chronic drinking refers to the pattern of three and eight weeks of gestation (i.e. four to
drinking throughout the week. 10 weeks after the last menstrual period), as
this may result in damage to the developing
5-10 Is it best not to drink alcohol organs of the embryo (malformations). The
at all during pregnancy? organs most at risk during this time are the
brain, heart, kidneys, eye, ear, palate and
Yes. It is best for women not to drink any skeleton. Drinking alcohol during the first
alcohol during pregnancy. trimester may cause congenital malformations
of any of these organs.
No amount of alcohol is considered safe during Therefore, women should stop drinking
pregnancy. when they plan to fall pregnant, i.e. before
conception.
4. 86 BIR TH DEFECTS
concentration in the fetus, as alcohol crosses
Drinking alcohol is most dangerous during the
the placenta easily. The higher the fetal blood
first trimester of pregnancy.
alcohol concentration, the greater is the risk of
damage to the fetus.
NOTE Drinking alcohol between three and
eight weeks after conception may cause
malformations in the developing embryo. The more alcohol a mother drinks, the greater is
At this stage some women do not know the risk of damage to her fetus.
or are unsure they are pregnant.
Women who can drink a lot of alcohol before
5-14 Are there other periods
becoming drunk are at a particularly high
during pregnancy when alcohol
risk of having an infant with fetal alcohol
is dangerous to the fetus?
syndrome as their fetusses are exposed to very
Yes, alcohol is dangerous throughout high blood alcohol concentrations.
pregnancy. Even after 10 weeks of gestation,
alcohol can still harm the fetus even though it 5-16 What factors affect the blood
may not cause congenital malformations. Fetal alcohol concentration?
brain and physical growth can be affected if
alcohol is drunk at any time during pregnancy. Many factors affect the mother’s blood alcohol
If the mother only starts to drink after the first concentration and, therefore, the blood
three months of pregnancy, the growth of the alcohol concentration of the fetus:
fetal brain and body can be slowed causing 1. The amount of alcohol drunk (the volume
brain damage and intra-uterine growth and alcohol content of the drink).
restriction. 2. Time taken to drink the alcohol.
Therefore, there is no time during pregnancy 3. Maternal weight.
when it is safe for the mother to drink alcohol. 4. Food intake at the time of drinking.
5. Smoking and other drug abuse at the same
time as drinking alcohol.
Women should stop drinking alcohol before 6. Genetic factors.
they conceive, and not drink alcohol at any time 7. Maternal malnutrition.
during pregnancy, to ensure that their unborn
infants are not damaged by alcohol. 5-17 How does the amount of alcohol
and the time taken to drink the alcohol
affect the blood alcohol concentration?
5-15 What other factors may alter the
risk of alcohol damaging the fetus? There is a direct relationship between the
amount of alcohol consumed, the time over
Drinking alcohol affects individuals differently.
which it was taken and the blood alcohol
Some individuals become drunk on small
concentration. The greater the amount of
amounts of alcohol while others are unaffected
alcohol drunk, and the shorter the time taken
by large volumes. The critical factor that
to drink the alcohol, the higher will be the
determines the effect of alcohol in a person
blood alcohol concentration.
is the level of alcohol in their blood, the so-
called blood alcohol concentration (BAC). An Normally, one drink results in a blood
individual is more affected by a high blood alcohol concentration in the range of
alcohol concentration than by a low blood 20–30 mg/% and then the alcohol is
alcohol concentration. completely broken down (metabolised) over
a period of two hours. After two drinks, the
A high maternal blood alcohol concentration
usual blood alcohol concentration is in the
also results in a high blood alcohol
5. FETAL ALCOHOL SYNDROME 87
Blood alcohol concentration (mg/%)
100
90 Four drinks
80
70 Three drinks
60 Two drinks
50
40 One drink
30
20
10
0
1 2 3 4 5 6 7 8
Hours
Figure 5-1: The blood alcohol concentration over eight hours after one to four drinks. The greater the number
of drinks, the higher the peak blood alcohol concentration and the longer it takes to return to nil
range of 40 to 50 mg/% and the alcohol is 5-19 How does food intake affect
broken down in four hours, and so on. the blood alcohol concentration?
Food, especially carbohydrate foods such
Drinking a lot of alcohol fast results in a high as bread, rice or maize products, reduces
blood alcohol concentration. the absorption of alcohol from the stomach
after drinking. This keeps the blood alcohol
concentration lower. Drinking without eating,
5-18 How does maternal weight affect therefore, results in a higher blood alcohol
the blood alcohol concentration? concentration.
Each drink results in a higher blood alcohol
concentration in women with a low weight 5-20 How does smoking and
than in women who weigh more. Heavier other drug abuse affect the blood
women, therefore, can usually drink more alcohol concentration?
than light women before they become drunk.
When smoking cigarettes and drinking occur
NOTE A mother’s weight is related to the
together, a higher blood alcohol concentration
amount of water in her body (her total body can be expected than when the same amount
water). The volume of alcohol drunk passes of alcohol is taken alone. Similarly, smoking
into all the body water within 20 minutes. A marijuana (dagga) or taking other drugs
large or heavy person has a large amount of together with alcohol also raises the blood
body water and this dilutes the alcohol and alcohol concentration. Therefore, the risk of
reduces the blood alcohol concentration. The fetal alcohol syndrome is higher if a woman
reverse is true for a small individual who has
both drinks alcohol and abuses other drugs
less body water to dilute the alcohol, resulting
in a higher blood alcohol concentration. during pregnancy.
All smoking during pregnancy is strongly
contra-indicated as smoking alone may cause
poor fetal growth and be a factor in causing
such defects as cleft-lip and cleft palate.
6. 88 BIR TH DEFECTS
5-21 How do genetic factors affect are important in the breakdown of alcohol in
the blood alcohol concentration? the liver, and deficiencies of iron or zinc may,
therefore, result in a higher blood alcohol
Alcohol is broken down in the liver by
concentration.
enzymes. These enzymes occur in two forms.
They may either break down alcohol fast or
slowly. Fast-acting enzymes, which break A higher blood alcohol concentration is expected
down alcohol rapidly, result in a lower than in women who are underweight, smoke and do
expected blood alcohol concentration for not eat when they drink.
the amount of alcohol taken. The opposite is
true for the slow-acting form of the enzymes
which break down alcohol slowly resulting 5-23 Does maternal age affect the
in a higher than expected blood alcohol risk of fetal alcohol syndrome?
concentration. The rate at which a mother’s Heavy drinking during pregnancy at any
liver breaks down alcohol is determined by age may cause fetal alcohol syndrome.
whether she has inherited fast- or slow-acting However, drinkers tend to drink more as
enzymes from her parents. Although fetal they get older and, therefore, the risk of fetal
alcohol syndrome is not an inherited defect, alcohol syndrome increases with maternal
individuals with slow-acting enzymes are at age. Maternal nutrition, poverty and general
an increased risk of having an infant with fetal health also tend to become worse over time
alcohol syndrome. in heavy drinkers.
NOTE Two separate enzymes are involved with This may explain why older mothers may give
metabolising alcohol. The first-step enzyme birth to an infant with fetal alcohol syndrome
breaks alcohol down to acetaldehyde while the even if they delivered normal infants when
second-step enzyme breaks down acetaldehyde they were young.
to carbon dioxide and water. A rapid first-
step enzyme followed by a slow second-step
enzyme may result in high concentrations
of acetaldehyde, which causes nausea in RECOGNISING INFANTS
the person who is drinking. Due to these WITH FETAL ALCOHOL
unpleasant side effects, this usually results in
smaller amounts of alcohol being drunk by SYNDROME
the person with this combination of enzymes.
As a result, they usually have a lower blood
alcohol concentration. Antabuse, the drug 5-24 What are the major features
used to stop alcoholics from drinking, uses this of fetal alcohol syndrome?
mechanism by interfering with the second-
step enzyme (slowing it) to produce nausea 1. A history of the mother drinking heavily
and vomiting in a person who ‘sneaks’ a drink. during pregnancy.
2. Microcephaly and low birth weight.
5-22 How does maternal malnutrition 3. Characteristic facial features.
affect the blood alcohol concentration? 4. Slower growth than expected, both before
and after delivery.
Maternal undernutrition usually results in an 5. Developmental delay, intellectual disability
individual with a low body weight. As a result, and behaviour problems.
these women tend to have a higher blood 6. Congenital malformations.
alcohol concentration than a heavier woman
who has drunk the same amount. Also, certain
trace elements and minerals, such as iron and
zinc, may be at lower than normal levels in a
malnourished person. Both of these minerals
7. FETAL ALCOHOL SYNDROME 89
Discriminating features Associated features
Epicanthal folds
Short palpebral fissures
Low nasal bridge
Flat midface
Short nose
Minor ear abnormalities
Indistinct philtrum
Thin upper lip Micrognathia
Figure 5-2: The typical facial features of fetal alcohol syndrome
5-25 Can infants with fetal alcohol 5-26 At what age is it easiest to
syndrome be recognised at birth? diagnose fetal alcohol syndrome?
Yes. Infants with fetal alcohol syndrome can Although the condition can be recognised
often be recognised at birth as they have at birth, the clinical features of fetal alcohol
typical facial features. The nurse or doctor syndrome often become more obvious when
delivering the infant, or examining the infant the children are between three and 10 years of
after birth, can recognise the condition. age. Therefore, many of these children are only
Infants with fetal alcohol syndrome are often diagnosed in childhood.
jittery, irritable and appear anxious after
delivery. If the mother drank throughout the 5-27 What are the characteristic facial
pregnancy, this abnormal behaviour could be appeances of a newborn infant and
due to the sudden withdrawal of alcohol to the child with fetal alcohol syndrome?
infant after delivery.
The most important facial signs are:
Fetal alcohol syndrome should always be
expected if the mother gives a history of heavy 1. Narrow (short) palpebral fissures
drinking during pregnancy. However, when (distance between the inner and outer
mothers are not suspected of heavy drinking corner of the eye).
in pregnancy, the diagnosis of fetal alcohol 2. A narrow pink border (vermillion border)
syndrome may be missed. of the upper lip (the visible pink part of the
upper lip, i.e. the area where a woman puts
If the doctor is not sure whether the infant has her lipstick).
fetal alcohol syndrome, the infant’s growth 3. Long, smooth upper lip with no vertical
and development should be monitored before ridge (philtrum) between the nose and
confirming the diagnosis. It is important the lip.
to be sure of the diagnosis before labelling
an infant as having fetal alcohol syndrome. Other less common signs include:
It is therefore important to refer the infant 1. Flattened nasal bridge with epicanthic
for further follow-up, e.g. developmental folds.
assessment at a later stage. 2. Short upturned nose.
8. 90 BIR TH DEFECTS
3. Small chin (micrognathia). With increasing age the flattening of the bridge
4. Deep creases down both sides of the of the nose fills out and becomes less noticeable
mouth when the infant cries. while the nose and jaw become longer. If the
5. Flattened cheekbones. face of an adolescent or adult with fetal alcohol
syndrome is viewed from the side, there is
NOTE A formal scoring system can be used
blunting of the tip of the nose, a long upper lip
to include all dysmorphic features present.
The higher the score the more likely the
and characteristic jutting shape to the jaw.
diagnosis of fetal alcohol sysndrome Experience is needed to notice these features.
or partial fetal alcohol syndrome.
NOTE Other features of FAS include, ptosis
5-30 May the pattern of drinking during
(droopy eyelid), abnormally shaped teeth, a pregnancy affect the facial appearance of
low hairline over the forehead and nape of the the infant with fetal alcohol syndrome?
neck (hirsutism), and minor ear abnormalities. Yes. If the mother drinks heavily throughout
They may also have a cleft palate.
her pregnancy, but especially between four
and 10 weeks of gestation, the characteristic
5-28 Why do infants with fetal facial appearance will be present. However, if
alcohol syndrome all look alike? the mother only drinks after the first 10 weeks
Most facial features of fetal alcohol syndrome of pregnancy, her infant may have a normal
are due to poor development of the mid- face. A confident diagnosis of fetal alcohol
face, giving the typical appearance. The syndrome then becomes very difficult.
short upturned nose, long smooth upper
lip without a philtrum, narrow pink border If a woman drinks heavily between four and 10
of the upper lip and small chin are due to
weeks of pregnancy, her infant will be at high
underdevelopment of the middle of the face.
risk of having the characteristic facial appearance
The philtrum consisting of two narrow ridges of fetal alcohol syndrome.
which normal infants have running from the
base of their nose to the centre of the upper
lip. This is often missing or smooth in infants 5-31 Do infants with fetal alcohol
with fetal alcohol syndrome. syndrome have small eyes?
When infants with fetal alcohol syndrome Their eyes are usually of a normal size.
cry, the pink part of the upper lip becomes However, their eyes appear small because they
stretched and thin. They also often have deep have narrow palpebral fissures (the distance
creases down both sides of their mouth which between the inner and outer corners of the eye).
are not seen when the infant is not crying. Most
NOTE Recent studies suggest that children with
of the facial features of fetal alcohol syndrome fetal alcohol syndrome do have smaller eyes
are more obvious when the infant cries. than normal as part of their microcephaly.
5-29 Do the facial features of fetal 5-32 How can the length of the
alcohol syndrome change with age? palpebral fissures be measured?
Yes. The facial features do change with age, The length of the palpebral fissure can be
and the most useful time to recognise them is measured with a ruler. However, this requires
between three and 10 years. Before and after special training and is usually only done at a
this time the typical features are less obvious. genetic clinic. It is easier done in older children.
After 10 years the facial features appear more
normal although the palpebral fissures and
ptosis remain for life.
9. FETAL ALCOHOL SYNDROME 91
GROWTH AND Children with fetal alcohol syndrome are short
DEVELOPMENT IN with small heads.
INFANTS WITH FETAL
5-35 What is the effect of alcohol on
ALCOHOL SYNDROME brain growth and devepment?
Head circumference is a good measure of
5-33 What is the pattern of growth brain size and is often used to assess brain
deficiency in newborn infants who growth. Slow brain growth results in slow head
have fetal alcohol syndrome? growth. This can be demonstrated in the fetus
with serial antenatal ultrasound scans. After
Growth deficiency begins with the fetus and delivery, slow brain growth can be recorded by
can be measured by serial antenatal ultrasound measuring head circumference with a tape and
scans throughout pregnancy. As a result, these plotting it on a centile chart.
infants often have a low birth weight (weigh
less than 2500 g at birth). Usually their weight, Heavy drinking during pregnancy will slow
length and head circumference at birth all fall down brain growth. Depending on the
below the 10th centile for gestational age. They amount and timing, alcohol abuse can result in
are, therefore, underweight and short for their microcephaly. As well as reducing brain growth,
gestational age (stunted) with small heads. alcohol also damages the brain, especially
Infants with fetal alcohol syndrome often have when alcohol is drunk in the first trimester.
a head circumference which is lower than Deficient growth and structural damage to the
their weight or length on the centile charts developing brain have serious consequences for
(microcephaly). the intelligence and behaviour of people with
fetal alcohol syndrome.
Infants with fetal alcohol syndrome are growth
restricted at birth. Drinking alcohol during pregnancy can restrict
fetal brain growth and development.
5-34 What are the typical growth
problems seen in older children 5-36 Are all people with fetal alcohol
with fetal alcohol syndrome? syndrome intellectually disabled?
Usually the infant’s weight, length and Yes. All people with fetal alcohol syndrome
head circumference remain below the 10th are intellectually disabled with an average
percentile. This pattern of slow growth intelligence (IQ) of 60–70, which is in the
continues in the infant after delivery, even mild intellectual disability range (average IQ
if the child receives a good diet. As a result, in normal people is 100). Worldwide, fetal
mothers of children with fetal alcohol alcohol syndrome is one of the most common
syndrome are often accused of not feeding preventable causes of intellectual disability.
their children properly. Infants and children with fetal alcohol
Both head circumference and length (height) syndrome are developmentally delayed. Their
remain less than expected throughout motor milestones are often slow and their
childhood and adolescence, resulting in short motor coordination poor. They also have
adult stature with a small head. The increase learning and behaviour problems.
in body weight is also slow although girls may
become obese at puberty. Boys tend to remain
underweight into adulthood.
10. 92 BIR TH DEFECTS
2. Problems from an early age integrating
Fetal alcohol syndrome is one of the common
into society. Stealing, lying, aggression
preventable causes of intellectual disability
and other abnormal activities are
world wide. common. These children are often easily
influenced by others to take part in anti-
5-37 What language problems are common social (e.g. alcohol and drug abuse) and
in children with fetal alcohol syndrome? criminal activities. They often suffer from
anxiety and low self-esteem and have
Children with fetal alcohol syndrome have
difficulty finding employment as adults.
delayed language development. However,
Children with fetal alcohol syndrome
once they learn to speak, they are often very
often become ‘street children’.
talkative although the content is very simple
and sentence construction poor. Social development is seriously affected by the
behaviour abnormalities, even if these children
Hearing loss or deafness, and cleft lip or
are placed in stable homes.
palate can worsen speech problems. These can
also affect the rate of acquiring speech and NOTE Poor concentration and hyperactivity
pronunciation. Hearing loss or deafness may in children are also known as attention
be due to recurrent ear infections, fluid behind deficit, hyperactivity disorder (ADHD).
the eardrums (chronic serous otitis media) or
congenital deafness due to nerve damage. 5-39 What learning problems are common
in children with fetal alcohol syndrome?
5-38 What behaviour problems
Most children with fetal alcohol syndrome
are common in children with
have general learning problems, especially
fetal alcohol syndrome?
with language, reading, writing, arithmetic
Behaviour problems are very common. and problem solving. Failing at school is
Infants are often irritable, cry a lot and common. The poor home environment also
have feeding difficulties. This may affect the adds to the learning and behaviour problems
mother–infant relationship and increases the as does attention deficit disorder.
risk of physical abuse.
Children with fetal alcohol syndrome Children with fetal alcohol syndrome have
commonly: serious life long physical, emotional, intellectual
1. Have sleeping problems. and behaviour problems.
2. Are unable to learn from past mistakes.
3. Have a lack of sense of danger. 5-40 What is alcohol-related
4. Have poor concentration (attention deficit neurodevelopmental disorder?
disorder).
5. Are hyperactive. Children who are exposed to alcohol only
6. Have poor memory. after the first trimester do not suffer the
serious effects of alcohol on developing
These behavioural abnormalities result in organs. They do not have the typical fetal
children with fetal alcohol syndrome having: alcohol face and congenital malformations.
1. School learning problems. The However, alcohol later in pregnancy still has
behaviour problems, especially the poor harmful effects on brain and body growth
concentration and hyperactivity associated resulting in microcephaly and stunting. These
with intellectual disability, result in school children are classified as Alcohol-Related
failure and the need for special education. Neurodevelopmental Disorder or Alcohol-
Related Neurological Defect or (ARND) and
not Fetal Alcohol Syndrome. Because they do
11. FETAL ALCOHOL SYNDROME 93
not have the typical facial features, they may CARE OF CHILDREN
be difficult to diagnose.
WITH FETAL ALCOHOL
5-41 What congenital malformations are SYNDROME AND
associated with fetal alcohol syndrome?
THEIR FAMILIES
The following malformations are associated
with fetal alcohol syndrome:
5-43 What care is available for people
1. Congenital heart defects. This is the
with fetal alcohol syndrome?
commonest associated malformation. The
defect seen most often is ventricular septal People with fetal alcohol syndrome, as with
defect (VSD) followed by atrial septal all people with congenital disability, should be
defect (ASD). offered the ‘best possible patient care’ available.
2. Skeletal abnormalities. These include This includes care of their medical problems
radio-ulnar synostosis (bony fusion of the and meeting their special needs:
two bones seen on X-ray in older children
1. It is important to make and confirm the
and adults), neural tube defects, vertebral
diagnosis of fetal alcohol syndrome as
abnormalities, abnormal fingers (4th and
early as possible. This allows for early
5th), and pectus excavatum (funnel chest).
counselling to inform parents about
3. Cleft lip and palate. Usually only a cleft
the disorder and available treatment,
palate is present. This is not common.
and helps them come to terms with the
Therefore examination of the palate with
many problems and to emotionally bond
a torch and spatula is necessary if the
with their child. It also allows for an
diagnosis of fetal alcohol syndrome is
early start to treatment and intervention
suspected.
programmes. This will ensure the best
long-term outcome for the person’s health,
5-42 Is there a test for fetal development and intellectual ability.
alcohol syndrome? 2. Newborns should be kept warm and
Unfortunately there is no specific biological test fed early to prevent hypoglycaemia and
for fetal alcohol syndrome. Therefore, a blood hypothermia caused by their intra-uterine
test cannot be used to screen children for this growth restriction.
disorder. It is a clinical diagnosis based on a 3. Ear infections are common. They should
careful general examination plus a history of the be diagnosed early and treated correctly
mother taking alcohol during pregnancy and with antibiotics.
a neurodevelopmental assessment. Great care 4. Behaviour problems should be managed.
must be taken in making the correct diagnosis This is a specialised area of treatment and
as it has serious implications for the person people with fetal alcohol syndrome should
with fetal alcohol syndrome and the family. be referred to special units if possible.
5. Children with congenital heart defects may
need to be treated for heart failure.
6. Surgical repair for congenital heart defects
may be needed. Infants and children,
suspected of having congenital heart defects,
should be sent for cardiac assessment.
7. Other congenital malformations such
as cleft lip or palate will need surgical
correction.
12. 94 BIR TH DEFECTS
5-45 Should children with fetal
People with fetal alcohol syndrome, like all
alcohol syndrome go to school?
people with disability, should get the best
possible care available for them. All children with fetal alcohol syndrome
should have the opportunity of going to
school, despite the fact that they will have
5-44 How should developmental and
school learning problems. In South Africa at
behavioural problems be managed?
present, the Department of Education’s policy
These children should be offered is ‘inclusive’ education for children with mild
neurodevelopmental therapy and community- intellectual disability. The aim of the policy is
based rehabilitation. Infants and children to allow disabled children to attend normal
with fetal alcohol syndrome develop slowly, schools where they will be integrated into
are intellectually disabled and have behaviour the education programme to the greatest
problems. Their successful integration into extent possible, but will also have available the
society, including schooling and finding specialised attention they need. Because of
employment, is difficult and will be greatly their behaviour problems it may be necessary
improved by early diagnosis and intervention. for the caregivers to work together with the
This includes: school on the child’s educational management.
The other option is for these children to go to a
1. Physiotherapy to assist those infants with
school for the intellectually disabled. There are
slow motor milestones to achieve their
a few of these special schools in South Africa.
motor milestones faster.
2. Hearing assessment (audiology) and
speech therapy. Infants and children with 5-46 Should infants with fetal
fetal alcohol syndrome have delayed speech alcohol syndrome be breastfed?
development and this may be worsened by Yes. However, alcohol crosses into the breast
hearing loss from recurrent ear infections milk in small amounts. Therefore, the mother
or congenital auditory (hearing) nerve should be encouraged not to drink alcohol
damage. Hearing must be checked if during the period that she is breastfeeding.
deafness is suspected. Speech therapy helps Emotional bonding and infant nutrition can
them to develop better speech faster. be improved with breastfeeding, especially
3. Occupational therapy. Fine motor co- when the home economic conditions are poor.
ordination and personal and social
development can be improved by an 5-47 What counselling is needed
occupational therapist. by parents who have a child with
Neurodevelopmental therapy in all its forms fetal alcohol syndrome?
is available in major centres. However, in less Counselling is a major part of the care of
resourced rural and urban regions, this may people with fetal alcohol syndrome and their
only be available in the form of community- family, especially the parents. The parents need
based rehabilitation. In South Africa, to be educated and informed about:
community-based rehabilitation for infants
and children with disability can be assisted 1. The diagnosis.
by the use of a locally produced stimulation 2. The cause of fetal alcohol syndrome.
program called START. 3. The clinical features, complications and
prognosis of fetal alcohol syndrome, and
Information on START can be obtained from: the treatment available.
Sunshine Centre, P O Box 41167, Craighall, 4. The risk for parents with a child with fetal
2024. Telephone 011 642 2005. alcohol syndrome having another child
with fetal alcohol syndrome in future
pregnancies. The risk can be eliminated if
13. FETAL ALCOHOL SYNDROME 95
the mother does not drink alcohol during using contraception until such time as they can
all future pregnancies. If possible, she reduce or stop drinking alcohol
should stop drinking alcohol completely.
In the long term, educating the whole
The parents, family and child with fetal community about the dangers of drinking
alcohol syndrome need to be offered on-going may be the best approach to preventing
psychosocial support as with all individuals fetal alcohol syndrome. FARR is currently
who have a congenital disability. They suffer undertaking research and conducting
lifelong problems which require lifelong care intervention programmes in various
including support. The burden of the disorder communities in South Africa focusing on the
is experienced not only by the affected person, support of pregnant women and community
but also the family, especially parents, brothers development and support.
and sisters. Support, help, reassurance and care
in these circumstances may be obtained from: NOTE Many alcoholic drinks have a health warning
on the label but it is uncertain whether this
1. Doctors, nurses (especially nursing staff reduces the risk of fetal alcohol syndrome.
trained in genetics), genetic counsellors
and neurodevelopmental therapists.
2. Teachers in special schools for the Every effort must be made to stop women
intellectually disabled. drinking alcohol during pregnancy to prevent
3. Social workers. fetal alcohol syndrome.
4. The Foundation for Alcohol-Related
Research (FARR). This non-governmental 5-49 How can you identify women
organisation plays a role in South Africa at risk of delivering an infant
in advocacy, patient and parent support, with fetal alcohol syndrome?
and educating the public, medical and
paramedical professions, social workers The following factors are associated with
and educators. women at high risk:
Contact details for FARR, 37 Thornhill Road, 1. A previous child with fetal alcohol
Rondebosch, 7700 (Cape Town), South Africa. syndrome. This is the most important risk
Telephone: 021 686 2645/46/47 and fax -21 factor.
685 7034 e-mail: info@farrsa.org.za 2. A previous child with developmental
delays and a suspected history of maternal
Internet: www.farr-sa.org.za drinking during pregnancy.
3. Women who admit to heavy drinking.
5-48 Can fetal alcohol 4. Women with a husband or partner who
syndrome be prevented? drinks heavily.
The answer is theoretically yes if the woman 5. Women from a community or household
does not drink any alcohol when pregnant. The where alcohol is abused.
reality is different. It is very difficult to prevent 6. A high suspicion that the woman drinks
alcohol consumption in all women who may heavily.
fall pregnant. It is also difficult to persuade All women must be asked about these risk
heavy drinkers not to drink. However, there factors when they book for antenatal care.
has been some success in reducing or stopping Mothers should also be asked about these risk
drinking in women who have previously factors if their child is suspected of having fetal
had a child with fetal alcohol syndrome. The alcohol syndrome. It is important not to be
alternative is to try and persuade women, who judgemental when taking a history of alcohol
are at risk, to delay becoming pregnant by intake. The amount and frequency of alcohol
drunk should be established.
14. 96 BIR TH DEFECTS
5-50 How should women at risk 3. Do two normal children indicate
of delivering an infant with fetal that she has no risk of damaging
alcohol syndrome be managed? this fetus with alcohol?
1. They must be informed of the risk to her No. Many women who drink a lot of
unborn infant. alcohol tend to drink even more as they get
2. They should be provided with the older. Therefore their later children are at a
information needed to make an informed particularly high risk of fetal alcohol syndrome.
decision about her drinking, i.e. counselled.
3. They should be referred to the appropriate 4. Would the fetus be safe if the mother
facilities or resources in the community only drank in the second half of pregnancy?
where she can obtain help and support,
e.g. social services, churches, women’s Alcohol in pregnancy is more dangerous in
groups, schools, employers and the first 10 weeks after the last menstrual
community workers. period when the fetal organs are still forming.
4. Women who are trying to stop abusing Heavy drinking during early pregnancy
alcohol need the support of the whole may, therefore, result in brain damage and
community. congenital malformations. However, drinking
in later pregnancy may still interfere with
the growth and brain development of the
Preventing fetal alcohol syndrome is firstly a fetus. Some infants exposed to alcohol only
community issue, but also a national concern. late in pregnancy appear normal at delivery
but still have brain damage (alcohol-related
neurodevelopmental disorders or alcohol-
CASE STUDY 1 related neurological deficit). Therefore alcohol
is dangerous at any time during pregnancy.
A mother of two normal children drinks
heavily throughout her pregnancy. She tells her 5. Is it safe for a mother who drinks
friends that fetal alcohol syndrome is rare and heavily to breastfeed her infant?
is inherited. Because her children are healthy As small amounts of alcohol cross into the
she believes that there is no danger to her fetus. breast milk, it is best if a mother does not drink
alcohol during the weeks and months that she
1. How common is fetal alcohol syndrome? is breastfeeding. However, alcohol in breast
milk will not cause fetal alcohol syndrome.
Although it is believed to be rare in
industrialised countries (one in 1000 births) it
is common in South Africa, especially in poor
communities where more than 50 per 1000
CASE STUDY 2
infants may be affected.
A young, thin woman who is pregnant with
her first child goes to a party one Saturday
2. Is fetal alcohol syndrome inherited?
evening with her boyfriend and gets very
No. However, the rate at which alcohol drunk. They both drink five 300 ml cans of
is broken down in the body is inherited. beers in less than an hour. She also smokes a
Therefore, women who inherit a slow rate of few cigarettes and has very little to eat.
breaking down alcohol are at an increased risk
of a damaged fetus as they have higher blood
concentrations of alcohol if they drink.
15. FETAL ALCOHOL SYNDROME 97
1. Is it dangerous if she only drinks CASE STUDY 3
heavily once during her pregnancy?
Taking a lot of alcohol even once during A midwife notices that a newborn infant has
pregnancy is dangerous to a fetus. Binge a strange facial appearance. The infant weighs
drinking like this can severely damage a fetus, less than 2500 g at birth and the head appears
especially in the first trimester. particularly small. The mother admits to
drinking heavily throughout her pregnancy.
2. How much alcohol is safe for a
pregnant woman to drink? 1. What is the typical appearance of the
face in infants with fetal alcohol syndrome?
Any amount of alcohol carries a risk of fetal
damage. It is best to drink no alcohol during They have short palpebral fissures and a long
pregnancy. smooth upper lip without a philtrum. There
are also deep creases down both sides of the
3. Does it matter how fast mouth and not much pink upper lip to be
the alcohol is drunk? seen, especially when the infant cries. Most of
these, and other facial features of fetal alcohol
The greater the amount of alcohol and the syndrome, are due to poor growth of the
faster it is drunk, the higher will be the blood central part of the face.
alcohol concentration. The higher the blood
alcohol concentration, the greater the risk of
2. What is the size at birth of most infants
damage to the fetus.
born with fetal alcohol syndrome?
4. How can one determine how many Most have a low birth weight (less than
drinks there are in five 300 ml cans of beer? 2500 g). Their weight, length and especially
head circumference measurements are
One drink is equal to one 300 ml can of beer, less than expected for their gestational age
one 150 ml glass of wine or a 25 ml tot of (less than the 10th centile). The small head
spirits. One drink contains 15 ml of absolute indicates that the infant’s brain has been
alcohol. Therefore five beers are equivalent to growing slowly during pregnancy.
five drinks (or 75 ml alcohol). This is a large
amount of alcohol.
3. How may the pattern of drinking
during pregnancy affect the
5. Are some types of alcohol less appearance of the infant?
dangerous to the fetus than others?
The facial abnormalities are most marked if
No. The risk to the fetus depends on the the mother drinks heavily during the first
amount of alcohol not on the type of drink, months of pregnancy (four to 10 weeks after
e.g. beer, wine or spirits. the last menstrual period).
6. What other factors may have influenced 4. At what age is the appearance of fetal
her blood alcohol concentration? alcohol syndrome most easy to recognise?
She is thin (and probably does not weigh very Although these infants can be recognised
much), smokes and has little to eat. These at birth, their abnormal appearance is most
factors will all result in a relatively high blood marked between three and 10 years of age.
alcohol concentration. Most infants with fetal alcohol syndrome look
similar, and with experience can be recognised.
16. 98 BIR TH DEFECTS
5. What congenital malformations 3. What is the average intelligence of
can be caused by heavy drinking children with fetal alcohol syndrome?
during pregnancy?
Most have a low IQ (intelligence quotient) of
Excessive alcohol intake during pregnancy not 60 to 70. This puts them in the range of mildly
only damages the growth and development intellectually disabled. Fetal alcohol syndrome
of the fetus but can also cause congenital is one of the most common preventable causes
malformations, especially of the heart of intellectual disability.
(ventricular and atrial septal defects), skeleton
and palate. 4. What language difficulties
occur in these children?
6. Is there a blood or other test
They have delayed language development,
that can prove the diagnosis of
i.e. they learn to talk later than normal.
fetal alcohol syndrome?
However, once they are able to speak, they
No. The diagnosis is based on the mother’s tend to be very talkative, using simple poorly
history of drinking alcohol during pregnancy, constructed sentences.
a clinical diagnosis based on specific clinical
signs in the infant and a neurodevelopmental 5. Are behaviour problems common
assessment. There is no specific biological test in fetal alcohol syndrome?
for fetal alcohol syndrome.
Yes, behaviour problems are common. Young
infants with fetal alcohol syndrome are
irritable and cry a lot which often affects the
CASE STUDY 4 mother–infant relationship and can result in
child abuse. Older children are hyperactive
A 10-year-old child with fetal alcohol syndrome with poor concentration (attention deficit).
is having major schooling problems. The Anti-social behaviour with lying, stealing and
teacher complains of bad behaviour. The child aggression may lead to criminal acts.
is not able to keep up with the other normal
children in the class and does not pay attention.
6. Should a child with fetal alcohol
syndrome go to a normal school?
1. Why do children with fetal alcohol
syndrome often fail at school? All children with fetal alcohol syndrome should
go to school and, if possible, attend a normal
All children with fetal alcohol syndrome have school. As most of these children have mild
reduced intelligence and learning difficulties intellectual disability they will need extra help.
and, therefore, failing at school is common. Some more seriously impaired children may
The main problem is brain damage caused need to go to a special school, if it is available.
by exposure to alcohol during pregnancy.
In addition, there are often many social
problems at home.
CASE STUDY 5
2. What learning problems are common?
Parents of a very difficult child with fetal
Children with fetal alcohol syndrome have alcohol syndrome visit a local clinic for help
particular problems with language, reading, and advice. They want to know what can be
writing, arithmetic and problem solving. It is, done to help them care for the child. They
therefore, not surprising that they often fail also ask about the risks of having another
at school. child with fetal alcohol syndrome as they still
drink heavily.
17. FETAL ALCOHOL SYNDROME 99
1. What care is available for children a history or suspicion of heavy drinking
with fetal alcohol syndrome? from the woman, her partner or the local
community is also associated with an
Parents of a child with fetal alcohol syndrome
increased risk. This should always form part of
need a lot of help and psychosocial support.
the history taken at an antenatal clinic.
Neurodevelopmental therapy is important and
includes physiotherapy, hearing assessment
and speech therapy, and occupational therapy. 4. Can fetal alcohol syndrome
Doctors, nurses, teachers and social workers all be prevented?
have a role to play. Comprehensive care can be Yes. Do not drink any alcohol throughout
offered in special units in most larger centres pregnancy. This is not easy for a woman who
in South Africa. Hospital and community- drinks heavily. Perhaps her best option, if
based services to provide neurodevelopmental she cannot stop drinking, is to delay having
therapy and stimulation programmes are further pregnancies, by using contraception.
becoming available in other regions. Local
support groups can be of great help. 5. How should this woman be helped?
2. Do children with fetal alcohol syndrome She must be advised about the risk of damage
need special medical treatment? to her unborn child if she drinks during
pregnancy, and be given the information she
Ear infections are common and need to be needs to make an informed decision about
diagnosed and treated early. Congenital her drinking. Both parents should be referred
malformations such as heart defects and cleft to a local resource in the community such as
palate will need correct treatment. a social worker, church group or community
worker. People can stop drinking but they
3. What factors identify a women need the help and support of the whole
at risk of having another child community if they are to succeed.
with fetal alcohol syndrome?
The most important risk factor is a previous
child with fetal alcohol syndrome. However,