The term 'genetic counselling' means different things to different people.
Some place emphasis on the counselling and supportive aspects and see it as an opportunity to talk over problems connected with having healthy children or passing on hereditary conditions.
Others see it more in terms of obtaining factual information about genetics, particularly the risks involved and tests available.
Perhaps the best approach is a combination of both these aspects, when not only is information exchanged but support and help can be offered in making what can often be difficult decisions.
People who have had a pregnancy terminated or have had a baby with an abnormality should have the opportunity of genetic counselling. Questions such as 'why me?', 'is the problem genetic?', 'could it happen again?', and 'are there any tests available during a future pregnancy?' are all points which can be discussed with a genetic counsellor.
The aim of genetic counselling is not to make decisions for people but to enable them to have the necessary understanding of the situation so that they can decide for themselves.
There are rarely easy answers and each person has individual and special needs but it often makes things clearer when the issues involved are discussed with someone who has some experience and understanding of them.
Sometimes, especially with conditions diagnosed before birth, what was thought to have been an isolated neural tube defect (eg anencephaly or spina bifida) may, on closer examination, be an NTD which is part of a pattern of problems which has very different genetic implications for the future. It is, therefore, very important that the couple ahve accurate advise about this, and a post mortem examination of the baby may be necessary. An accurate diagnosis is vital for accurate genetic counselling.
Genetic counselling is done by someone with a medical or nursing background who has had further training in both genetics and counselling, or by a specially trained genetics counsellor. This usually takes place at a specialist genetics centre. referrals to such centres are usually made by a GP, or obstetric or paediatric staff. If someone feels they would benefit fromgenetic counselling, they should discuss this with their doctor and request referral.
Often parents feel guilty about their child's disability and it does help knowing that there was nothing which they could have done to prevent it. While some of the factors contributing towards neural tube defects are known, certainly not all of the factors can be identified in each individual case. Up-to-date information about research in this field is often given during a genetic counselling consultation.
There are a growing number of conditions that can be diagnosed in pregnancy by tests such as amniocentesis, the earlier chorionic villus sampling test and improved ultrasound scans.
However, the test known as Chorionic Villus Sampling is not able to help with diagnosis of neural tube defects such as anencephaly or spina bifida.
The usefulness, availability and risks of such tests for each individual can be discussed with the genetic counsellor if it has not already been dealt with by the GP or obstetric staff. This is a rapidly developing field of medicine and it is important to get up-to-date information.
Different families have different needs, so genetic counselling is arranged to address these individual needs. The counsellor will usually spend time (sometimes at home in the first instance) mapping out a family tree to see if there are any relevant problems on either side of the family and finding out the particular questions that the family may wish to ask.
Appointment times vary depending on the needs of each individual. There will be time to answer any questions or worries and a further appointment can be arranged if more information or tests are needed. Most centres provide a summary letter of the consultation. Occasionally couples may need to have further investigations, for example chromosome tests.
Many issues may be covered during consultation, including information about possible underlying causes of the problem, risks of the problem happening in the future and options for tests in pregnancy.
The counsellr will also discuss whether the higher dose of folic acid should be taken to lower the risk of neural tube defects in a future pregnancy (the higher dose is a 5mg tablet, taken daily from ceasing contraception to the end of the 12th week of pregnancy). ASBAH recommends that all women with a family history of NTD, or whose partner has a family history, should take the higher dose of folic acid.
If you feel you could benefit from genetic counselling, ask your own GP or obstetrician to refer you to your nearest genetics centre.
Some people find counselling helpful very soon after the birth as they have urgent questions which they feel cannot wait. Others prefer to leave it a little while until they may be thinking more clearly.
Whichever you choose, the important thing is that you have an opportunity to discuss the issues at a time that feels right for both you and your partner.
