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. 2
Care,
prevention and
counselling
Before you begin this unit, please take the MANAGEMENT OF BIRTH
corresponding test at the end of the book to
assess your knowledge of the subject matter. You DEFECTS IN A COMMUNITY
should redo the test after you’ve worked through
the unit, to evaluate what you have learned.
2-1 How is the problem of
birth defects managed?
Objectives Managing the problem of birth defects requires
the establishment of basic medical genetic
services. The World Health Organisation
When you have completed this unit you
(WHO) has defined the aim of medical genetic
should be able to: services as helping people with a genetic
• Understand the care of people with birth disadvantage (i.e. those affected and those at
defects. risk of having a child with a birth defect) to
• Explain the principles of preventing birth live and reproduce as normally as possible.
defects. Medical genetic services require management
• Describe medical genetic screening. programmes for birth defects. These consist of
• Define genetic counselling. a comprehensive plan to:
• Describe the purpose, principles and 1. Provide the best possible care for people
process of genetic counselling. with birth defects, and for their families.
• Be an active listener. 2. Prevent birth defects by community
• Describe the normal reaction to loss. education, periconception care, genetic
counselling, medical genetic screening, and
prenatal diagnosis and care.
Medical genetic services combine the best possible
patient care with the prevention of birth defects.

2. CARE , PREVENTION AND COUNSELLING 33
CARING FOR PEOPLE health-care clinic or hospital. Counselling
will help them understand and deal with
WITH BIRTH DEFECTS the issues resulting from the birth defect.
2-3 Can all people with birth defects
2-2 What care is needed for
be offered the best possible care?
people with birth defects?
Yes. The World Health Organisation, in its
Caring for people with a birth defect involves
discussions on the development of medical
three steps:
genetic services, realised that levels of health
1. Recognising birth defects: care are different between countries, and
A birth defect must be identified as early even within different regions of a country.
as possible to ensure the best response Therefore, what can be offered to patients
from treatment and genetic counselling. in different circumstances varies, but in
In low resource nations, primary health- any situation ‘the best possible patient care’
care providers should learn to recognise available should be offered.
birth defects and diagnose their country’s
In no circumstance should care not be offered.
common and important birth defects. In
South Africa these would include:
• Down syndrome. 2-4 How can you recognise a birth
• Oculocutaneous albinism. defect and make a genetic diagnosis?
• Waardenburg syndrome. A birth defect is identified and, where possible,
• Haemophilia. a genetic diagnosis is made in the same way as
• Fetal alcohol syndrome. all medical diagnoses by:
• Neural tube defects.
• Club foot. 1. Taking a full history: This includes a
A definite diagnosis cannot always be presenting history, birth history, past
made. However, it remains important to history, social history and a family history.
know that the person has a birth defect and The family history must be recorded as a
to recognise the disabilities that may be three generation family tree. A positive
associated with the birth defect. family history of a disorder increases the
2. Provide appropriate treatment: risk of an inherited birth defect.
Having recognised a birth defect, the 2. Doing a physical examination: A full
primary health-care provider has the examination must be done. Many of the
responsibility for offering and providing abnormal clinical signs (dysmorphic
appropriate treatment. This may be features) of birth defects are external and
available in the local clinic or hospital or visible. These signs can be used to suggest a
may require the patient to be transferred possible diagnosis. If a patient has three or
to a regional centre. Whenever possible, more recognisable dysmorphic features or
treatment should be provided in the an obvious congenital malformation (e.g.
primary health-care facility which is closest cleft lip or spina bifida), this indicates a
to the patient and the family’s home. birth defect.
3. Offer genetic counselling and psychosocial 3. Performing investigations: Investigations
support. relevant to each case can be ordered and
With treatment the affected person and the results obtained.
family, especially parents, should be offered 4. Making a final diagnosis: If possible a
genetic counselling and psychosocial doctor should confirm the diagnosis
support. As far as possible, for common before treatment and genetic counselling
disorders, this should occur at a primary are offered. If a final diagnosis cannot be
reached, and this is holding back the on-

3. 34 BIR TH DEFECTS
going treatment and counselling of the • A circle with a dot in the centre represents
patient, referral to an appropriate centre a female carrier of an X-linked recessive
must be considered. disorder
• A diagonal line through a square or circle
indicates that the person has died.
People with three or more dysmorphic features
should be assessed for a birth defect. Parents are linked to each other with a
horizontal line (marriage or partnership line),
while parents and children are linked with a
2-5 What is a three-generation family tree? vertical line (descent line). Two parallel lines
This is a drawing of family members over at link parents who are related (consanguineous).
least three generations (a pedigree). It helps
to make a genetic diagnosis and identify the 2-6 What is a genetic diagnosis?
method of inheritance of inherited birth
A genetic disanosis (or genetic medical
defects. The three-generation family tree is
diagnosis) is the diagnosis of a disorder which
drawn after taking a careful family history.
is caused by an abnormal chromosome or
Normal individuals, people with birth defects,
gene (a chromosomal or genetic abnormality).
probable carriers (autosomal recessive or X-
Sometimes a genetic diagnosis can be made
linked recessive) and pregnancy losses are all
clinically by recognising a pattern of abnormal
plotted on the family tree. One line is used for
clinical signs (a syndrome).
each generation.
The following symbols are used in a three- 2-7 Can a genetic diagnosis
generation family tree: always be made?
• Males are indicated with a square. No. In about 40% of people with birth defects
• Females are indicated with a circle. a definitive genetic diagnosis cannot be made
• A clear square or circle is used for normal (e.g. the person has dysmorphic features that
individuals. do not fit into a recognisable syndrome).
• A completely filled in square or circle is They may present with a variety of problems
used for affected individuals. including intellectual, physical, auditory
• A half filled in square or circle indicates (hearing) and visual (sight) disability and
carriers of an autosomal recessive disorder epilepsy. Early recognition of these disabilities
(heterozygotes). is important for treatment and genetic
counselling. Care must be given even if a final
diagnosis cannot be made.
I
People with birth defects frequently present
with disabilities which can usually be treated and
II
counselled for.
III
2-8 What treatment is available
IV
for people with birth defects?
Four means of treatment for people with a
Figure 2-1: A family tree of a female child with a
birth defect are available. Many treatments
birth defect, whose carrier parents are unaffected
but consanguineous. The affected child’s cannot cure the problem, but they can improve
grandparents and great-grandfather are also the quality of life. Unfortunately, many of
carriers of the abnormal autosomal recessive gene the latest treatment methods are expensive
that caused her disorder.

4. CARE , PREVENTION AND COUNSELLING 35
and not available in low resource countries, programmes can be developed to undertake
including South Africa. this task and help people with disability live
and function in their community.
1. Medical treatment: People with birth
4. Genetic counselling and psychosocial
defects often have problems that can
support: Genetic counselling and
be treated with medication. Because of
psychosocial support are a major part of
limited resources in developing countries,
caring for people with birth defects and
primary health-care providers often have
their families.
to give and monitor these medications, if
necessary, in co-operation with specialists
in secondary or tertiary care centres. PREVENTION OF
Examples of medical treatment that can
be undertaken in primary health-care BIRTH DEFECTS
centres include antibiotics for recurrent
infections, sunscreen for oculocutaneous
albinism, cardiac failure treatment, blood 2-9 How can birth defects be prevented?
transfusion for anaemia, factor VIII or There are two practical approaches for the
IX for haemophilia and anti-convulsant prevention of birth defects:
medicines for epilepsy.
1. Basic reproductive health approaches to
2. Surgical treatment: Surgery, especially
prevent birth defects.
paediatric surgery, often saves lives or
2. Medical genetic (population) screening,
offers significant improvement for many
prenatal diagnosis and genetic counselling.
serious birth defects. At the primary
health-care level, people with conditions
that can benefit from surgery need to be 2-10 What are basic reproductive
recognised early and transferred to the health approaches?
appropriate surgical unit. These are methods of preventing birth defects
Examples include surgery for by ensuring normal infants are conceived
meningomyelocoele, omphalocoele and and the embryo and fetus is not damaged by
heart defects, orthopaedic manipulation teratogens or constraint during pregnancy
and surgery for club foot, removal of (the first eight weeks after conception). These
congenital cataracts, and surgery for methods need to be in place before conception
cleft lip and palate. The transfer of the and are dependent on community education,
patients with a birth defect, such as an especially the education of women. These
omphalocoele, needs to be carefully methods are also referred to as ‘primary pre-
managed to ensure that the patient arrives vention of birth defects’ and are the preferred
in the best clinical condition possible. method for the prevention of birth defects. All
3. Neurodevelopmental therapy (NDT) countries should develop their medical ser-
and rehabilitation: This should include vices to include these methods of prevention
the availability of occupational, speech of birth defects, which are mainly carried out
and physiotherapy, and other therapies in primary health-care centres. They include:
needed for rehabilitation, e.g. stoma
therapy for individuals with repaired 1. Family planning.
meningomyelocoele who are incontinent. 2. Periconception care.
They assist people with birth defects to
overcome their disabilities and to integrate Basic reproductive health approaches are
into society to the greatest extent possible. methods aimed at the primary prevention of
In some developing countries, such as South
birth defects.
Africa, where therapists are not always
available, community-based rehabilitation

5. 36 BIR TH DEFECTS
2-11 How can family planning Birth defects can be caused by deficiencies
prevent birth defeects? of certain essential dietary nutrients
(e.g. vitamins and minerals). Increasing
A functional, accessible family planning
the quantity of these nutrients in the diet
service that is well used by people is essential
can prevent certain birth defects. The best
for the prevention of birth defects. If this
known example of a birth defect due to
service is available:
inadequate maternal nutrients is fetal brain
1. Women have the option of limiting their damage due to the mother’s diet being
family size. As a result, fewer infants are deficient in iodine. This can be prevented
planned for and born. Therefore, fewer by adding iodine into the populations’ salt
infants with birth defects are born. supply (fortification). In South Africa table
2. Women of advanced maternal age (35 salt is fortified with iodine.
years or older) can reduce their risk of NOTE Every year about 28 million infants
having an infant with a chromosomal worldwide are born at risk of mild
abnormality, particularly Down syndrome. intellectual disability, and 60 000 infants
This risk increases as they get older. develop severe congenital hypothyroidism
Family planning allows these women the (cretinism), due to inadequate amounts
option of completing their families before of iodine in the mother’s diet.
35 years of age. Folic acid is another example. Fortifying
3. Women, who have had a child with a a staple food with folic acid, or giving
birth defect that is inherited, are at risk in folic acid as a pill (supplementation), for
following pregnancies of having further three months before and after conception
affected children. With family planning significantly reduces the birth prevalence
they have the option of not having more of neural tube defects. In South Africa,
children. bread and maize meal are fortified with
folic acid. Since starting maize meal
2-12 What is periconception care? fortification with folic acid there has been
Periconception care is the care of women’s a 30% reduction in the birth prevalence of
health before conception (i.e. before falling neural tube defects.
pregnant) and in early pregnancy (the Diet can also be improved by removing
first eight weeks) to prevent birth defects. substances that can damage the embryo
Periconception care tries to ensure the best and fetus (teratogens). The best example
possible health care for women to help them is alcohol. Community education to warn
conceive a normal infant and to reduce women of reproductive age of the dangers of
the risks of damage to the embryo in early alcohol to the embryo and fetus is necessary.
pregnancy. It should also include fathers in
pregnancy preparation and care, and promote Improving the diet of women reduces the risk of
responsible fatherhood. The whole community birth defects.
should also be educated about the importance
of good periconception care. 2. Avoid and treat maternal infections:
All children, especially girls, should be
immunised against rubella (German
Good periconception care can prevent some birth
measles) as rubella during early pregnancy
defects. causes serious birth defects (congenital
rubella syndrome).
2-13 What periconception care can 3. Detect and treat maternal health problems:
help to prevent birth defects? Diabetes mellitus and epilepsy are
maternal illnesses that can be detected
1. Improve women’s diet:

6. CARE , PREVENTION AND COUNSELLING 37
before pregnancy and correctly treated,
Medical genetic screening is a process
reducing the risk of birth defects. Avoid
undertaken in populations to identify people at
drugs which may damage the embryo or
fetus (teratogens) such as warfarin, lithium increased risk of being affected by, or having a
and some anticonvulsants. child with, a birth defect.
All girls should be immunised against rubella 2-15 When can medical genetic screening
tests for birth defects be done?
before reaching puberty.
1. Preconception screening: This is the ideal
form of screening and prevention as it
allows the parents at risk the greatest range
MEDICAL GENETIC of reproductive choices.
SCREENING 2. Prenatal (antenatal) screening: This is
done once pregnancy is confirmed, late in
the first trimester or early in the second
2-14 What is medical genetic screening? trimester. If medical genetic screening
Medical genetic (population) screening uses during pregnancy for a particular disorder
tests or questions in a population to: is positive, then further testing may be
needed to confirm or exclude the diagnosis.
1. Find people at increased risk of having a The mother or couple should receive genetic
particular birth defect. counselling before they consider prenatal
2. Find women at increased risk of having a diagnosis and again once the result of the
fetus with a birth defect. prenatal diagnosis is available, especially if
Screening tests are not necessarily diagnostic the result confirms an abnormality.
tests. 3. Postnatal screening: This is done after
birth. Medical genetic screening is done
When identified by a screening test of being at in newborn infants, older children and
increased risk, individuals can then be offered adults. In the newborn period the most
further tests, if necessary, to confirm the cost-efficient means of screening is for
diagnosis, or treatment to prevent or treat the every infant to be physically examined
condition. People being screened, including by a trained observer before discharge
pregnant mothers, will not have presented from hospital or clinic. For example, this
with complaints or signs of the disorder for will identify most infants with Down
which they are screened. syndrome. Blood screening tests can also
Medical genetic screening can identify be done to screen for certain conditions,
pregnant women at an increased risk of having e.g. congenital hypothyroidism.
an infant with a specific birth defect, e.g. Down
NOTE Preconception screening is used for
syndrome or neural tube defect. Couples may primary prevention as it prevents a child
be screened for being carriers of a common with a high risk of a birth defect from being
autosomal recessive disorder and therefore of conceived. Prenatal screening is used for
being at increased risk of conceiving a child secondary prevention as the management of a
with the disorder, e.g. sickle cell anaemia and fetus with a birth defect can be planned. Once
thallasaemia. For other people it detects an an infant with a birth defect is born, tertiary
increased risk for themselves being affected prevention consists of early recognition and
by a particular birth defect, e.g. congenital diagnosis, treatment and genetic counselling
to prevent, to the greatest extent possible,
hypothyroidism in infants.
deterioration, complications, disability and
dependency of the infant with the birth defect.

7. 38 BIR TH DEFECTS
2-16 What medical genetic screening Maternal serum can also be used to
tests for birth defects are available? screen for neural tube defects (alpha
fetoprotein). This form of screening is
All medical genetic screening should be carried
not generally available in South Africa
out with the full knowledge and understanding
as accurate gestational ageing of the
of the person being screened. There should be
pregnancy with early ultrasound is
pretest and post-test counselling.
necessary for the tests to be done.
1. Preconception screening: • Rhesus (Rh) blood group screening to
• Taking a family history. identify Rh negative women who may
• This is screening by asking questions. have an infant with neonatal jaundice
Taking and interpreting a three and anaemia due to blood group
generation family history from women incompatibility with her partner.
of reproductive age is an inexpensive • DNA carrier screening. This can also
way of identifying persons with an be carried out on parents during
increased risk of having a child with pregnancy, but it is preferable to do this
a birth defect. This could be done in before conception.
family planning clinics. 3. Postnatal screening:
• Carrier (DNA) screening. • Clinical examination of the newborn
• Screening for carriers of common infant by a trained examiner before
recessive single gene defects is carried discharge from the clinic or hospital.
out in countries with a high prevalence This is unfortunately not done routinely
of these birth defects. The birth defects in South Africa.
screened by blood tests include sickle • Newborn screening on cord blood or
cell anaemia, thalassaemia and cystic heel prick blood, e.g. for congenital
fibrosis. This is expensive and is only hypothyroidism. This is only available
done in a few countries. in a few centres in South Africa.
2. Prenatal screening: NOTE Several birth defects can be screened
• Advanced maternal age screening to for using neonate’s blood, from a heel prick,
identify pregnant women 35 years of put on Guthrie cards (blotting paper). Birth
age and older. This is done by simply defects that can be screened for in this
asking all pregnant women their age, manner include sickle cell anaemia, glucose-
and responding appropriately to those 6-phosphate dehydrogenase deficiency,
women 35 years and older. congenital hypothyroidism and inborn
• Ultrasound screening. Ultrasound errors of metabolism. This is only offered
in private practice in South Africa.
screening for Down syndrome can be
offered from 11 to 14 weeks gestation
and a scan for other congenital 2-17 Why is medical genetic screening
abnormalities (such as neural tube for birth defects not available to
and heart defects) between 18 and everyone in south africa?
23 weeks. Unfortunately, this is not Medical genetic screening can be expensive
generally available in South Africa due and requires functioning health systems and
to the lack of necessary equipment and infrastructure to be done correctly. Each
trained staff. country must decide on its priorities before
• Maternal serum screening. Maternal establishing these screening services. In
serum can be tested for different South Africa the only antepartum medical
chemicals late in the first trimester genetic screening that is offered to most of the
(PAPP A and hCG) and early in the population is for Rhesus blood grouping and
second trimester (Triple test) to calculate syphilis. Advanced maternal age screening
a risk for a fetus with Down syndrome. could and should be offered. Examination of

8. CARE , PREVENTION AND COUNSELLING 39
Ultrasound monitor
Uterus
Amnion
Amniotic fluid
Placenta Bladder
Fetus
Vagina
Rectum
Cervix
Figure 2-2: Amniocentesis to obtain a sample of amniotic fluid
all newborn infants by a trained examiner is a small risk that the procedure will cause
before discharge from the clinic or hospital complications, including a miscarriage.
should also be easily done. This risk is about 1% with an experienced
operator (sonographer). Woman should be
2-18 What choices does a pregnant informed of this risk so they can include
woman have if she has an increased this information in their decision on
screening risk for a birth defect? whether or not to have an amniocentesis.
Ultrasound examination can also be
If a pregnant woman is shown by genetic used to make a prenatal diagnosis. An
screening to be at increased risk for having a ultrasound examination is a non-invasive
fetus with a birth defect, she and her partner procedure that can be very helpful in
should receive careful genetic counselling identifying structural abnormalities.
regarding their specific situation and the
options available to them. NOTE In specific circumstances fetal cells
can also be obtained by chorionic villus
This counselling will offer them two choices: (placental) biopsy or cordocentesis (drawing
1. To have prenatal diagnosis: Prenatal blood from the umbilical cord). Both have
higher complication risks than amniocentesis
pregnancy diagnosis can confirm whether
and are only offered at a few tertiary centres
the fetus does or does not have a particular and in private practice in South Africa.
birth defect. This may require invasive
procedures such as amniocentesis to obtain 2. To continue the pregnancy without
fetal cells or amniotic fluid for testing. prenatal diagnosis: A pregnant woman
Amniocentesis involves inserting a thin may decide to take this choice, knowing
needle under ultrasound guidance through and understanding the risks of having an
the abdominal wall into the uterus. There infant with a birth defect.

9. 40 BIR TH DEFECTS
PARENTS’ CHOICES WITH to people with problems. They offer relevant
information and discuss options for people to
PRENATAL DIAGNOSIS manage their problems and better cope with
their lives. This empowers peoples to make their
own decisions and take the best course of action
2-19 What choices does a woman according to their personal circumstances,
have with a confirmed prenatal customs, and religious and moral beliefs.
diagnosis of a birth defect?
Once a pregnant woman, preferably together
Counselling is about empowering people to make
with her partner, has received careful genetic
their own informed decisions and to cope with or
counselling regarding her specific situation, she
should consider the options available to her. solve their own problems.
It is particularly important that she is given
detailed information about the severity of the 2-22 What important skills
disability and the mortality risk associated are needed to counsel?
with the specific birth defect. The health-care
Two essential skills are needed for counselling:
facilities available to manage an infant born
with that particular birth defect must also be 1. A good knowledge of the topic or situation
known. Only then, can she make a choice of being discussed.
whether to continue with the pregnancy. 2. The ability to communicate effectively.
Effective communication is the basis of
NOTE Any discussion with the parents must be counselling.
within the limits of the legal terms of reference
of the country (Choice on Termination of
Pregnancy Act 92, 1966 in South Africa). The 2-23 What is effective communication?
counselling must be non-directive, not coercive Communication in counselling is a two-way
and respect the religious, moral and personal process in which information, knowledge,
beliefs of the parents. The parents’ decisions are
thoughts and ideas are passed between the
paramount and must be accepted and respected.
people being counselled and the counsellor.
The spoken word is the most important means
of communication.
GENETIC COUNSELLING
However, the counsellor must be aware that
people may also pass important messages by
2-20 What is counselling? showing their emotions and in their body
language (how they act). The counsellor must
Counselling is a process of education,
learn to pick up these signs as it helps in
communication and support by which
gathering information and giving appropriate
a counsellor helps a person or people to
understanding (empathy) and emotional
cope with difficult situations in their lives
support.
so that they are able to make important
decisions and find realistic ways to solve Effective communication requires the skill of
their problems. Counselling, therefore, helps active listening.
people to make their own informed decisions
and supports their choices, rather than
Effective communication is a combination of
simply telling them what to do.
active listening and using words with care and
consideration.
2-21 What is a counsellor?
A counsellor is someone who is trained to
educate, assist and give psychosocial support

10. CARE , PREVENTION AND COUNSELLING 41
2-24 What is active listening? ‘Words are like medication, they have the ability
Active listening is the process of hearing not to heal but their side effects can be harmful.’
only the words people say, but also noting
their body language and emotional reactions,
2-27 What can block effective
and trying to understand the meaning
communication?
behind their words and actions. In order to
understand what a person is saying and to 1. Talking more than listening.
respond appropriately, the counsellor must 2. Interrupting and arguing.
become skilled in actively listening to people. 3. Being judgemental, critical, threatening or,
manipulative.
2-25 What is needed for active listening? 4. Being uninterested.
5. Trying to control the discussion.
A good listener should: Communication is a two-way process.
1. Put the person being counselled at ease so 6. Concentrating only on facts, not feelings.
that they can feel free to talk.
2. Remove distractions and concentrate on ‘If you do not listen to the person being
what is being said. Close the door. Do not
counselled, do not expect them to listen to you.’
take phone calls, fiddle with notes or tap
your pencil.
3. Not talk too much. You cannot listen if 2-28 What is genetic counselling?
you keep talking. Be silent when silence is Genetic counselling is an educational process
needed. Do not interrupt unnecessarily or which helps people with a birth defect, or
finish people’s sentences. a risk of giving birth to a child with a birth
4. Show interest and empathy. defect, and their families to understand:
5. Try to put yourself in the place of the
person being counselled so that you can 1. The diagnosis (what is the problem).
see and understand the problem from their 2. The cause of the birth defect, including the
point of view. method of inheritance.
6. Be patient, and allow and answer questions. 3. The clinical effects, prognosis and available
treatment for the birth defect.
4. The risks of recurrence of the birth defect
Active listening is the key to effective counselling. in future pregnancies or other family
members.
2-26 What else can help 5. The options for reducing these risks or
effective communication? preventing the birth defect in future
pregnancies.
1. Choose your words carefully. Ensure that
what you say is what the person being
2-29 Who can be helped by
counselled will understand.
genetic counselling?
2. Say what you mean and give simple
messages. Genetic counselling helps people and their
3. Remember that as you can receive families who are:
messages from the person being counselled
1. Affected by a birth defect.
from their body language, emotional
2. At risk of inheriting a birth defect.
reactions and tone of voice, so can you pass
3. At risk of passing on a birth defect to their
messages to them in the same way. Make
children.
sure you pass the ‘right’ message.
4. Carrying a fetus with a birth defect.
4. Repeat important information and make
sure it is understood.

11. 42 BIR TH DEFECTS
Genetic counselling assists these people to support they may need or request to enable
make their own informed decisions and them to make the necessary decisions and
choices. It also helps them take charge and to adjust to their particular circumstances.
accept responsibility for coping with and This may require referring them to other
solving situations in their lives that occur professionals and social agencies.
because of a birth defect.
Note that there are enormous differences
between genetic counselling and simply
Genetic counselling helps individuals or families providing information and advice.
who have a birth defect, or are at risk of giving A number of different social grants are
birth to a child with a birth defect, to understand, available for individuals with birth defects in
manage and come to terms with the situation. South Africa (as listed in Addendum B).
2-30 How is genetic counselling done? 2-31 What are the principles
of genetic counselling?
The main steps in genetic counselling can be
remembered by using the word DIAS (i.e. an 1. Non-directive education. Therefore the
anagram). DIAS stands for: genetic counsellor must:
• Have the appropriate information to do
1. Define the problem: the counselling. If not, the counsellor
Confirm a diagnosis, if possible, and should acquire this information or have
identify those issues, related to the the confidence to refer the person or
diagnosis, concerning the counselled person people being counselled to someone
or persons. Find out from the person or with the knowledge.
people being counselled what they expect • Make sure the person or people
and need from the genetic counselling. being counselled are fully informed.
2. Inform: The counsellor must pass on all the
Inform fully (educate) the person or knowledge he or she has on the topic
the people being counselled about the under discussion, including the good
diagnosis, the cause, the clinical features and the bad aspects.
and the prognosis, the available treatment, • Give the necessary information
genetic risks (risk assessment) and the in a language, and at a level of
options for risk reduction or prevention in understanding, that the person or people
future pregnancies and family members. being counselled fully understand.
3. Allow people to make their own decisions: • Give the information to the person
With the information available to them, or people being counselled in a
the individuals or family should be non-directive manner. This means
encouraged to make their own decisions the information is given in a way
regarding their situation based on to that must not influence their future
their personal circumstances, customs, decisions in the direction the
religious and moral beliefs (autonomous counsellor would choose.
decision making). These decisions must 2. Enabling people to decide for themselves.
be accepted and respected by the genetic Therefore the genetic counsellor must:
counsellor, nursing staff and medical team • Ensure that each person being
involved in their care. counselled must be allowed to make
4. Support: their own decisions. Their choices
During the genetic counselling process, and may be very different from that of the
thereafter, individuals and family should counsellor.
receive the understanding (empathy),
psychological (emotional) and social

12. CARE , PREVENTION AND COUNSELLING 43
• Empower the persons being counselled 8. The local, provincial and national
to make their own decisions. resources available for care of individuals
• Respect and accept these decisions, with birth defects.
even if they would not be the option 9. The parent support group facilities available
chosen by the counsellor, i.e. be non- locally, provincially and nationally.
judgemental. Reassure them that the
medical team working with them will 2-33 What are the characteristics
also respect and accept their decisions of a good genetic counsellor?
and make sure they continue to get
proper care. A good genetic counsellor should:
3. Providing support. Therefore the genetic 1. Be knowledgeable regarding the situation
counsellor must: or disorder that is under discussion.
• Encourage people being counselled to 2. If not knowledgeable, they should be able to
express their feelings and needs freely. get the appropriate information, or have the
• Provide non-judgemental confidence to refer those being counselled
communication and support for the to someone who does have the information.
individual and family choices and 3. Be honest.
encourage the medical and genetics 4. Have the courage to be able to say ‘I don’t
management team do the same. know’. It is not possible to know everything
• Maintain confidentiality within the you may need in a given situation. You can
management team. always find answers later or refer them to
someone who will know.
2-32 What must be known to be 5. Be a good listener and good communicator.
able to give genetic counselling? This helps to build a relationship of trust
and acceptance so that feelings can be
1. Who should receive genetic counselling?
expressed, even negative or bad ones.
2. The clinical details and natural history
6. Be respectful of the other person’s feelings
of the common birth defects, especially
and point of view, understanding that every
the birth defect on which the patient
person is an individual who will experience
or parents are being counselled. This
their problem in their own unique way.
includes diagnoses where available, cause,
7. Be non-judgemental (do not judge what is
clinical features, prognosis, and available
right and wrong or place blame).
treatment and options for reduction of
8. Be relaxed and calm, i.e. controlled. A
recurrent risk or prevention.
counsellor should not become emotionally
3. How to obtain a detailed family history and
involved with people receiving counselling.
construct a three-generation family tree.
9. Be non-directive. This means to give the
4. How to use the family tree to decide on the
people being counselled the necessary
mode of inheritance for the disorder in the
information they need, and the options
family tree.
they have, in a manner that does not
5. How to estimate simple genetic recurrence
influence, one way or the other, the
risks from a family tree.
decisions they have to make.
6. The details of genetic tests (e.g.
10. Be trustworthy and respectful of
chromosomal analysis) and procedures
confidentiality.
(e.g. amniocentesis) for prenatal and
11. Be able to ‘break bad news’.
postnatal screening and diagnosis of
12. Be able to support people through their
common birth defects.
problems, including the normal mourning
7. Basic counselling skills.
(grieving) process associated with death or
serious problems.
13. Be patient, caring and understanding.

13. 44 BIR TH DEFECTS
2-34 What are the physical requirements 5. Couples who are married to a relative, such
for genetic counselling? as a cousin (consanguinity).
6. People diagnosed as carriers or at
1. A place with privacy and relative
risk of being a carrier of a recessive
comfort to consult with the people
genetic disorder, e.g. haemophilia or
being counselled. There should be as few
oculocutaneous albinism.
interruptions as possible (telephones,
7. Couples diagnosed with an abnormal fetus
cellphones, bleepers, noise and people
on ultrasound examination.
coming in and out).
8. Women who have had recurrent pregnancy
2. People being counselled and the counsellor
losses (more than two miscarriages).
should be able to sit reasonably close
9. Pregnant women, or women who wish to
so that they can hear and interact with
have an infant, where the fetus is at risk
each other but not feel cramped or
of a birth defect because of fetal infection
uncomfortable. Big desks form a barrier
(e.g. rubella), maternal disorders (e.g.
between the people involved and prevent
diabetes) or teratogens (e.g. alcohol).
easy interaction. Ideally counselling is a
10. Couples identified by prenatal screening
‘round table conference’.
who have an increased risk of a birth defect
3. Enough time must be available for the
(e.g. advanced maternal age, abnormal
counselling to fully cover the problems
ultrasound or a positive maternal serum
being discussed.
screening test).
2-35 Who should provide
genetic counselling? Any person who is affected by a birth defect,
at risk of inheriting a birth defect, or at risk of
A doctor, genetic-trained nurse or genetic
counsellor, provided they are competent and giving birth to a child with a birth defect should
have received appropriate training. be offered genetic counselling.
Nursing staff, with appropriate training, have
been found to be competent at providing
genetic counselling in under-served areas in BREAKING BAD NEWS
South Africa. Unfortunately, due to the lack of
trained and experienced staff, people needing
2-37 Why is breaking bad news
genetic counselling are often counselled by
about birth defects difficult?
untrained or poorly trained people.
When a woman is pregnant her wish and
2-36 Who needs genetic counselling? expectation are for the birth of a normal
child. Giving a woman and her partner
Any person who is affected by a birth defect, news about a birth defect causes them great
or at risk of inheriting a birth defect, or at risk distress. They will have to face loss, including
of passing on a birth defect to their children. loss of life, health or the possibility of not
These include: having a normal child.
1. People with a birth defect. People who are faced with loss tend to
2. Parents of a fetus, infant or child with a respond in a manner which can be predicted.
birth defect. Counsellors breaking bad news should be
3. Parents of an unexplained intrauterine, aware of this so that they can assist people
neonatal or infant death, if this was through the process.
considered to be due to a birth defect.
4. People with a family history of a birth
defect, who are considering having children.

14. CARE , PREVENTION AND COUNSELLING 45
2-38 How do people respond to loss? above stages while others may only go through
some of the stages.
People who suffer loss may go through a
typical series of reactions. These are:
1. Denial: The normal response to loss is a sequence of
When faced with bad news involving loss, denial, anger, bargaining, depression and
many people first refuse to believe what acceptance.
they have been told. This is their way of
giving themselves time to begin to deal
with and understand the terrible news that 2-39 Can reactions to loss be abnornal?
causes them to feel hopeless and helpless. Yes. Some people have an abnormal grieving
2. Anger: (mourning) reaction. They may take too long
Once they realise the news is true; the or not be able to pass from one stage to another,
next reaction may be anger, rage or or have an abnormally strong reaction in a
resentment. This is often directed at particular stage. Thus a person may become
other people including family members stuck in denial and be unable to come to terms
(e.g. wife or husband, father or mother), with the bad news, have excessive anger, which
friends, medical or nursing staff and even can damage their relationships with family and
God. It is a defence that people use to friends, or cause them to blame caregivers, or
protect themselves against despair, and a become pathologically depressed.
genetic counsellor must understand this
and support the person being counselled The genetic counsellor needs to be aware that
through this stage. abnormal grieving reactions can develop, be
3. Bargaining: able to recognise them as early as possible, and
In this stage, which is usually short, people refer the person for expert management.
may try to enter into some sort of bargain
with God, to try and reverse or put off 2-40 How does a genetic
feeling the loss. counsellor break bad news?
4. Depression: Genetic counsellors have to use their ability
Eventually, after a person has denied, raged in effective communication to break bad
and bargained they begin to realise the news. Preparing for and breaking bad news is
great loss they have suffered and this may very important because the way this is done
result in depression. They need to receive may greatly affect the response of the person
acceptance, understanding and empathy, receiving the news. The counsellor should
and be given space to freely express their therefore follow guidelines to try and ensure
feelings to help them through this period. that this is done in the best possible manner.
5. Acceptance: This should include:
Eventually the loss is accepted and the
person begins to adjust to the changes the 1. Find a suitable environment for the
loss has brought to their life. At first there counselling session.
is a feeling of numbness which becomes a 2. Decide who should be in the counselling
very sad period. Although this sadness will session and ensure everyone is politely
be overcome and the person will continue introduced.
with their life, at times in the future they 3. Establish from the person being counselled
will be reminded of their loss, resulting in their knowledge and understanding of the
sadness or anger once again. situation under discussion. Also assess
their general level of understanding and
Before reaching acceptance, some people may awareness so that your discussions will be
move forward and backward through the at a level that is understandable.

15. 46 BIR TH DEFECTS
4. If appropriate, assess through careful pregnant women should be asked their age
questioning how much the person wants when pregnancy is confirmed. If 35 years or
to know. older they should be counselled and offered
5. Inform the person being counselled of the genetic screening and prenatal diagnosis
bad news. Do this carefully and gently, (amniocentesis) when indicated.
offering small amounts of information at • Ultrasound scanning late in the first
any one time. When people receive bad trimester and then again between 18–23
news they often cannot take in too much weeks gestation can screen many birth
information at a time. defects.
6. Use simple language, leaving out medical • Maternal serum tests can be used to screen
terms they will not understand (e.g. for Down syndrome (late first trimester)
trisomy 21 or tetralogy of Fallot) and use and neural tube defects (early second
teaching aids (e.g. pictures) if necessary. trimester).
7. Every now and then check to see if they • All pregnant women should be screened
understand what is being told to them. for their Rhesus blood group so that
8. Be prepared and willing to repeat haemolytic disease of the newborn can be
information one or more times. avoided.
9. Answer questions to the best of your ability,
and never be afraid to say that you do not 2. What can be done before pregnancy to
know. Answers can be found later or you reduce the risk of child with birth defects?
can refer them to someone who will know.
10. Write down the main points or give them The risk of having a child with birth defects
prepared written information about the can sometimes be reduced with basic
birth defect so that they can read and think reproductive health approaches, such as family
about the information later. planning (deciding not to conceive) and
periconception care.
End the counselling session with an open
invitation to those being counselled to contact 3. What is periconception care?
the genetic counsellor with any further
queries, need for psychosocial support or This is the care of women before conception
for further genetic counselling they require. and during the first eight weeks of pregnancy,
Provide them with contact particulars. which may reduce the risk of birth defects. It
aims for optimal health care for women before
conception and in early pregnancy to increase
CASE STUDY 1 the chance of a normal infant.
A woman who is one month pregnant, and 4. Give examples of how periconception
has a three-year-old child with a birth defect, care can prevent birth defects?
visits her family doctor and asks if anything • Improve the woman’s diet by food
can be done to find out whether her fetus has supplementation or fortification. In South
the same birth defect. After taking a careful Africa iodine fortification of table salt can
family history, the doctor draws a three- prevent fetal brain damage due to iodine
generation family tree. deficiency while folic acid fortification
of maize meal has reduced neural tube
1. How can birth defects be defects by 30%.
screened for during pregnancy? • Avoid dangerous substances in the diet
such as alcohol.
• Older women (35 years or older) are at an
increased risk of having a fetus with birth
defects, especially Down syndrome. All

16. CARE , PREVENTION AND COUNSELLING 47
• Make sure that all women are immunised 2. What is the importance of identifying
against rubella before they reach people at increased risk?
childbearing age.
They can be offered further tests to confirm
• Detect and correctly treat maternal
whether or not they, or their fetus, have the
illnesses such as diabetes and epilepsy.
birth defect or are likely to pass the problem
• Make sure that any medication taken is
on to their children.
safe for the fetus.
3. Do these people not already have
5. What are supplementation
signs of the clinical condition?
and fortification?
No. This is why they need to be identified by a
Essential substances, such as folic acid and
screening method.
iodine, can be added to food in the diet
(fortification) or can be taken separately as a
pill, tablet or capsule (supplementation). Folic 4. What is the importance of being
acid and iodine are often provided as either identified as having a birth defect
fortification or supplementation. or possibly passing a genetic
defect on to one’s children?
6. What is a three-generation family tree? Prevention or treatment can be offered to
these people. For example, they may decide
This is a drawing (a pedigree) of three
not to have children if there is a high chance
generations of that family showing normal
that their children may be affected by a serious
individuals and those who have a birth defect
genetic defect, such as cystic fibrosis. On
or are carriers of a birth defect.
the other hand, the infant could be offered
treatment for a condition, such as haemophilia,
7. What is the value of a three- before it presents with serious complications.
generation family tree?
It helps to identify patterns of inheritance 5. When can screening be done
of a birth defect, e.g. autosomal dominant, to prevent birth defects?
autosomal recessive or X-linked recessive.
• Before conception (preconception
This makes it easier to predict whether a birth
screening).
defect is likely to occur in a given pregnancy.
• During pregnancy (prenatal screening).
• After delivery (postnatal screening).
CASE STUDY 2 6. Can you give an example of each?
Parents who plan a family are concerned about • Before conception – DNA carrier
the possibility of having a child with birth screening for common single gene defects,
defects. They speak to friends and say they have e.g. cystic fibrosis.
heard about medical genetic screening for birth • During pregnancy – Early ultrasound
defects but do not know what the term means. scanning or maternal serum screening for
Down syndrome.
1. What is medical genetic screening? • After delivery – blood screening for
congenital hypothyroidism.
MedicaI genetic screening, or population
screening, is a system that uses questions or
tests in a community to identify individuals
at increased risk of having a birth defect or a
woman having a child with a birth defect.

17. 48 BIR TH DEFECTS
CASE STUDY 3 the best informed decision for themselves.
They are helped to come to terms with their
situation and solve the problems that occur.
A nurse wants to train as a genetic counsellor.
She speaks to the tutor of a genetic counselling
course to find out more about counselling. She 4. What essential skill does a
also reads a book about caring for parents of genetic counsellor need?
children with birth defects. They should be able to communicate well
with people. Active listening is particularly
1. What is genetic counselling? important.
It is a process of education, communication and
support which helps people with a birth defect 5. What is active listening?
or who are at risk of giving birth to a child with It is the ability to hear not only the words
a birth defect. It enables them to understand people say but also note and interpret their
the diagnosis, cause, method of inheritance, body language and emotional reactions. This
clinical effects, prognosis and treatment and helps to understand the meaning behind
risk of recurrence of the birth defect. their words.
2. How is genetic counselling provided? 6. What are common mistakes, which
The main goals of a genetic counsellor are: may prevent active listening?
• Defining the problem. • Talking more than listening.
• Informing and educating. • Interrupting and arguing.
• Allowing people to make their own • Being judgemental.
decisions. • Concentrating only on facts and not also
• Supporting them. feelings.
Remember ‘DIAS’.
7. What are the expected
normal responses to loss?
3. Why is counselling more than
simply giving good advice? • Denial.
• Anger.
During counselling, people are educated about • Bargaining.
their problems, receive options for managing • Depression.
the situation and are empowered to try and • Acceptance.
understand their problem and then make