Down Syndrome South Afica









Down syndrome - Genetic counselling


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GENETIC COUNSELLING

What is it?

Genetic Counselling is often regarded as an abstract concept with very few registered nurses and doctors actually using the service offered! Genetic Counselling is an invaluable service offered to individuals and families who have or who are at risk of having a genetic condition, either personally or a child with a genetic disorder. There is often a misconception by the public about the word counselling; as this word is used in conjunction with genetic they often shy away from the service, feeling that they don't need counselling¨. Although supportive counselling is certainly one of the goals of a session, the primary goal is to provide the family or individual with information regarding the medical facts of the condition, the inheritance pattern, their risks for having the condition or having an affected child, and their options for dealing with and managing the condition in the best way possible for them.

Who should go for Genetic Counselling?

Individuals and families are referred to the Genetic Counselling Clinic if:  The mother is over the age of 35 years. There has been a previous child with a chromosome abnormality like Down syndrome, trisomy 13 or 18, or Turners Syndrome. There is a child or a family member with a neural tube disorder. Where there is a known family history of an autosomal dominant disorder, like neurofibromatosis, hereditary colorectal cancer or Huntington's disease. There is a known recessive condition in the family, like cystic fibrosis or albinism. A known history of an X-linked disorder, like haemophilia. Consanguinity in the family. High risk groups, eg. Ashkenazi Jewish where they are at higher risk of carrying a gene for a condition like Tay Sachs disease, Greek or Indian ancestry, where they are greater risk of carrying a gene for thalassaemia. Maternal infections (rubella) or maternal disease, such as diabetes or epilepsy. Prescription or recreational drug use during pregnancy. Alcohol consumption during pregnancy. When an abnormality has been detected on ultrasound examination or other prenatal screening or invasive tests.

What happens at the Genetic Counselling Session?

After greeting the client, the counsellor will clarify whether he/she understands why they have been referred to the clinic. The counsellor will then establish what the client would like to achieve from the session and then go on to explain how the session will proceed. A full family history is taken and a clear three generation (or more if indicated) family pedigree is constructed. Then each individual case is dealt with accordingly. Should the patient require any prenatal screening procedures (like a blood sample for AFP or a sonar examination) or diagnostic invasive testing, like chorionic villus sampling or amniocentesis, the counsellor will clearly outline the procedure and discuss associated risks. If prenatal testing is what they choose, and if an abnormality is detected, the patient is made aware that termination of a pregnancy is legally available and can be arranged if they so wish. The counselling is always non-directive, the patients autonomy is respected and decisions made, although facilitated by the counsellor, are entirely the patient and her partners choice. The counsellors are often faced with sensitive and emotional situations, and it is vital that the sessions are managed in a compassionate, non-judgemental and empathic manner, respecting the patients privacy and maintaining confidentiality at all times.

Where are Genetic Counselling Clinics held?

In Gauteng, antenatal patients are seen at Chris Hani Baragwanath Hospital and Johannesburg Hospitals at the Fetal Medicine Centres, and at Coronation Hospital at the Specialist Clinic. Clinical cases are seen at the Donald Gordon Medical Centre (private patients), Chris Hani Baragwanath, Coronation Hospital and Johannesburg Hospital. To make a booking for these clinics, please contact 011 489 9224 and speak to Zain. For queries, there is always a Medical Geneticist and a Genetic Counsellor on call, who can be contacted telephonically at the same number. In Cape Town Antenatal Genetic Counselling Clinics are held at Groote Schuur Hospital and at Red Cross Childrens Hospital. To make bookings for these clinics please phone 021 406 6305 and 021 404 6235