This area of practice focuses on hereditary cancer syndromes. The hallmarks of which are a young age of onset, a strong family history of cancer and multiple cancers in the same person. Your genetic counsellor will assess the risk of a familial cancer syndrome and discuss a testing strategy. Your family and medical history together with your test results, will be integrated to determine your personal risk of cancer.
Prenatal genetic counselling can be tailored to your individual risks depending on several factors. Please contact us if you have concerns due to a personal history of multiple miscarriages, a known genetic condition in your family, an abnormal screening test or abnormalities detected on ultrasound. Additionally, our practice offers noninvasive prenatal testing (NIPT) genetic counselling.
A genetic diagnosis in a young child can be overwhelming, leaving you with many questions.
Indications for referral for paediatric genetic counselling include; if your child was recently diagnosed with a birth defect, genetic syndrome, developmental/intellectual disability, or a hearing or visual impairment.
We see patients for their personal or family history of a genetic condition. These may include late-onset neurological conditions, a new diagnosis of a visual impairment or a congenital condition that you would like to explore further in your adult life.
PREIMPLANTATION GENETIC TESTING (PGT)
Using IVF to select an unaffected embryo is now available in South Africa. The first step is to know the genetic cause of the condition in the family. Many couples would consider PGT over other prenatal testing options.
PRECONCEPTION CARRIER SCREENING
We all carry mutations in recessive genes, if both partners carrier a mutation in the same gene, their child may be at risk of a genetic condition. Often there is no family history to warn of this risk.Carrier screening is now recommended to all couples by the American College of Obstetrics and Gynaecology. Testing strategies would depend on ethnicity and family history.
Patients and families with a known or suspected cardiac condition, such as cardiomyopathies, congenital heart defects, sudden cardiac death or arrhythmia syndromes, will benefit from genetic counselling and possible genetic testing. Please ask your cardiologist for a referral.