Birth Defects: Care, preventing and counselling

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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

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Birth Defects: Care, preventing and counselling

  1. 1. 2 Care, prevention and counsellingBefore you begin this unit, please take the MANAGEMENT OF BIRTHcorresponding test at the end of the book toassess your knowledge of the subject matter. You DEFECTS IN A COMMUNITYshould redo the test after you’ve worked throughthe 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. 2. CARE , PREVENTION AND COUNSELLING 33CARING FOR PEOPLE health-care clinic or hospital. Counselling will help them understand and deal withWITH BIRTH DEFECTS the issues resulting from the birth defect. 2-3 Can all people with birth defects2-2 What care is needed for be offered the best possible care?people with birth defects? Yes. The World Health Organisation, in itsCaring for people with a birth defect involves discussions on the development of medicalthree steps: genetic services, realised that levels of health1. 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 the2. 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. 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 a2-5 What is a three-generation family tree? vertical line (descent line). Two parallel linesThis is a drawing of family members over at link parents who are related (consanguineous).least three generations (a pedigree). It helpsto 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 medicaldefects. The three-generation family tree is diagnosis) is the diagnosis of a disorder whichdrawn after taking a careful family history. is caused by an abnormal chromosome orNormal individuals, people with birth defects, gene (a chromosomal or genetic abnormality).probable carriers (autosomal recessive or X- Sometimes a genetic diagnosis can be madelinked recessive) and pregnancy losses are all clinically by recognising a pattern of abnormalplotted 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 diagnosisgeneration 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 andII counselled for.III 2-8 What treatment is availableIV for people with birth defects? Four means of treatment for people with aFigure 2-1: A family tree of a female child with a birth defect are available. Many treatmentsbirth defect, whose carrier parents are unaffectedbut consanguineous. The affected child’s cannot cure the problem, but they can improvegrandparents and great-grandfather are also the quality of life. Unfortunately, many ofcarriers of the abnormal autosomal recessive gene the latest treatment methods are expensivethat caused her disorder.
  4. 4. CARE , PREVENTION AND COUNSELLING 35and not available in low resource countries, programmes can be developed to undertakeincluding 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 to2. 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. All3. 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. 5. 36 BIR TH DEFECTS2-11 How can family planning Birth defects can be caused by deficienciesprevent birth defeects? of certain essential dietary nutrients (e.g. vitamins and minerals). IncreasingA functional, accessible family planning the quantity of these nutrients in the dietservice that is well used by people is essential can prevent certain birth defects. The bestfor the prevention of birth defects. If this known example of a birth defect due toservice is available: inadequate maternal nutrients is fetal brain1. 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 table2. 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. Fortifying3. 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 meal2-12 What is periconception care? fortification with folic acid there has beenPericonception care is the care of women’s a 30% reduction in the birth prevalence ofhealth before conception (i.e. before falling neural tube defects.pregnant) and in early pregnancy (the Diet can also be improved by removingfirst eight weeks) to prevent birth defects. substances that can damage the embryoPericonception care tries to ensure the best and fetus (teratogens). The best examplepossible health care for women to help them is alcohol. Community education to warnconceive a normal infant and to reduce women of reproductive age of the dangers ofthe risks of damage to the embryo in early alcohol to the embryo and fetus is necessary.pregnancy. It should also include fathers inpregnancy preparation and care, and promote Improving the diet of women reduces the risk ofresponsible fatherhood. The whole community birth defects.should also be educated about the importanceof 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 detected1. Improve women’s diet:
  6. 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 rangeMEDICAL 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 second2-14 What is medical genetic screening? trimester. If medical genetic screeningMedical genetic (population) screening uses during pregnancy for a particular disordertests 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 prenatal2. 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 ifScreening tests are not necessarily diagnostic the result confirms an abnormality.tests. 3. Postnatal screening: This is done after birth. Medical genetic screening is doneWhen identified by a screening test of being at in newborn infants, older children andincreased risk, individuals can then be offered adults. In the newborn period the mostfurther tests, if necessary, to confirm the cost-efficient means of screening is fordiagnosis, or treatment to prevent or treat the every infant to be physically examinedcondition. People being screened, including by a trained observer before dischargepregnant mothers, will not have presented from hospital or clinic. For example, thiswith complaints or signs of the disorder for will identify most infants with Downwhich they are screened. syndrome. Blood screening tests can alsoMedical 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 forsyndrome or neural tube defect. Couples may primary prevention as it prevents a childbe screened for being carriers of a common with a high risk of a birth defect from beingautosomal recessive disorder and therefore of conceived. Prenatal screening is used forbeing at increased risk of conceiving a child secondary prevention as the management of awith the disorder, e.g. sickle cell anaemia and fetus with a birth defect can be planned. Oncethallasaemia. For other people it detects an an infant with a birth defect is born, tertiaryincreased risk for themselves being affected prevention consists of early recognition andby 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. 7. 38 BIR TH DEFECTS2-16 What medical genetic screening Maternal serum can also be used totests for birth defects are available? screen for neural tube defects (alpha fetoprotein). This form of screening isAll medical genetic screening should be carried not generally available in South Africaout with the full knowledge and understanding as accurate gestational ageing of theof the person being screened. There should be pregnancy with early ultrasound ispretest 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. 8. CARE , PREVENTION AND COUNSELLING 39 Ultrasound monitor Uterus Amnion Amniotic fluid Placenta Bladder Fetus Vagina Rectum CervixFigure 2-2: Amniocentesis to obtain a sample of amniotic fluidall newborn infants by a trained examiner is a small risk that the procedure will causebefore 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 be2-18 What choices does a pregnant informed of this risk so they can includewoman have if she has an increased this information in their decision onscreening risk for a birth defect? whether or not to have an amniocentesis. Ultrasound examination can also beIf a pregnant woman is shown by genetic used to make a prenatal diagnosis. Anscreening to be at increased risk for having a ultrasound examination is a non-invasivefetus with a birth defect, she and her partner procedure that can be very helpful inshould receive careful genetic counselling identifying structural abnormalities.regarding their specific situation and theoptions available to them. NOTE In specific circumstances fetal cells can also be obtained by chorionic villusThis counselling will offer them two choices: (placental) biopsy or cordocentesis (drawing1. 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. 9. 40 BIR TH DEFECTSPARENTS’ CHOICES WITH to people with problems. They offer relevant information and discuss options for people toPRENATAL DIAGNOSIS manage their problems and better cope with their lives. This empowers peoples to make their own decisions and take the best course of action2-19 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 makewith her partner, has received careful genetic their own informed decisions and to cope with orcounselling regarding her specific situation, sheshould consider the options available to her. solve their own problems.It is particularly important that she is givendetailed information about the severity of the 2-22 What important skillsdisability 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 bornwith that particular birth defect must also be 1. A good knowledge of the topic or situationknown. 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 by2-20 What is counselling? showing their emotions and in their body language (how they act). The counsellor mustCounselling is a process of education, learn to pick up these signs as it helps incommunication and support by which gathering information and giving appropriatea counsellor helps a person or people to understanding (empathy) and emotionalcope with difficult situations in their lives support.so that they are able to make importantdecisions and find realistic ways to solve Effective communication requires the skill oftheir problems. Counselling, therefore, helps active listening.people to make their own informed decisionsand supports their choices, rather than Effective communication is a combination ofsimply 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 toeducate, assist and give psychosocial support
  10. 10. CARE , PREVENTION AND COUNSELLING 412-24 What is active listening? ‘Words are like medication, they have the abilityActive listening is the process of hearing not to heal but their side effects can be harmful.’only the words people say, but also notingtheir body language and emotional reactions, 2-27 What can block effectiveand trying to understand the meaning communication?behind their words and actions. In order tounderstand 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 birth4. 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 oreffective 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 their3. 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. 11. 42 BIR TH DEFECTSGenetic counselling assists these people to support they may need or request to enablemake their own informed decisions and them to make the necessary decisions andchoices. 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 othersolving 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 beremembered by using the word DIAS (i.e. an 1. Non-directive education. Therefore theanagram). DIAS stands for: genetic counsellor must: • Have the appropriate information to do1. 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 make4. 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. 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 be1. 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 emotionally3. 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 the4. 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 not5. 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 mourning7. Basic counselling skills. (grieving) process associated with death or serious problems. 13. Be patient, caring and understanding.
  13. 13. 44 BIR TH DEFECTS2-34 What are the physical requirements 5. Couples who are married to a relative, suchfor genetic counselling? as a cousin (consanguinity). 6. People diagnosed as carriers or at1. 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 pregnancy2. 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 defect3. 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 providegenetic counselling? Any person who is affected by a birth defect, at risk of inheriting a birth defect, or at risk ofA doctor, genetic-trained nurse or geneticcounsellor, provided they are competent and giving birth to a child with a birth defect shouldhave received appropriate training. be offered genetic counselling.Nursing staff, with appropriate training, havebeen found to be competent at providinggenetic counselling in under-served areas in BREAKING BAD NEWSSouth Africa. Unfortunately, due to the lack oftrained and experienced staff, people needing 2-37 Why is breaking bad newsgenetic counselling are often counselled by about birth defects difficult?untrained or poorly trained people. When a woman is pregnant her wish and2-36 Who needs genetic counselling? expectation are for the birth of a normal child. Giving a woman and her partnerAny person who is affected by a birth defect, news about a birth defect causes them greator at risk of inheriting a birth defect, or at risk distress. They will have to face loss, includingof passing on a birth defect to their children. loss of life, health or the possibility of notThese include: having a normal child.1. People with a birth defect. People who are faced with loss tend to2. Parents of a fetus, infant or child with a respond in a manner which can be predicted. birth defect. Counsellors breaking bad news should be3. 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. 14. CARE , PREVENTION AND COUNSELLING 452-38 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 atypical 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 grieving2. 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, be3. 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 andBefore reaching acceptance, some people may awareness so that your discussions will bemove forward and backward through the at a level that is understandable.
  15. 15. 46 BIR TH DEFECTS4. 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 offered5. 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 that8. 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 openinvitation to those being counselled to contact 3. What is periconception care?the genetic counsellor with any furtherqueries, need for psychosocial support or This is the care of women before conceptionfor 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 increaseCASE STUDY 1 the chance of a normal infant.A woman who is one month pregnant, and 4. Give examples of how periconceptionhas 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 foodcan be done to find out whether her fetus has supplementation or fortification. In Souththe same birth defect. After taking a careful Africa iodine fortification of table salt canfamily history, the doctor draws a three- prevent fetal brain damage due to iodinegeneration family tree. deficiency while folic acid fortification of maize meal has reduced neural tube1. 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. 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 have5. What are supplementation signs of the clinical condition?and fortification? No. This is why they need to be identified by aEssential substances, such as folic acid and screening method.iodine, can be added to food in the diet(fortification) or can be taken separately as apill, tablet or capsule (supplementation). Folic 4. What is the importance of beingacid and iodine are often provided as either identified as having a birth defectfortification 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 decideThis is a drawing (a pedigree) of three not to have children if there is a high chancegenerations of that family showing normal that their children may be affected by a seriousindividuals and those who have a birth defect genetic defect, such as cystic fibrosis. Onor 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 doneof a birth defect, e.g. autosomal dominant, to prevent birth defects?autosomal recessive or X-linked recessive. • Before conception (preconceptionThis 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 carrierthe 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 ultrasounddefects 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 populationscreening, is a system that uses questions ortests in a community to identify individualsat increased risk of having a birth defect or awoman having a child with a birth defect.
  17. 17. 48 BIR TH DEFECTSCASE 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 counsellingcourse to find out more about counselling. She 4. What essential skill does aalso 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 particularly1. What is genetic counselling? important.It is a process of education, communication andsupport 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 wordsa birth defect. It enables them to understand people say but also note and interpret theirthe diagnosis, cause, method of inheritance, body language and emotional reactions. Thisclinical effects, prognosis and treatment and helps to understand the meaning behindrisk of recurrence of the birth defect. their words.2. How is genetic counselling provided? 6. What are common mistakes, whichThe 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 thansimply 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

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