ABSTRACT
Ms C sits opposite the genetic counsellor. She is pregnant in her fourth month. A fully fledged physician with extra training in human genetics, the counsellor is an expert on congenital disorders, genetic defects and biostatistics.1 Between them on the table are charts, diagrams and graphs. Behind them is a one-and-a-half hour educational session on the statistical distribution of birth defects, Mendelian inheritance, chromosomal aberrations and their ominous portents of the unborn child’s future. Because of her age and her disabled2 cousin, Ms C’s gynaecologist had diagnosed her ‘at risk’ and suggested she undergo an amniocentesis. But since an amniocentesis carries new risks and can only provide reasons for terminating the pregnancy, the physician did not want to recommend it. Instead he asked Ms C to figure out what to do. Thus he sent her to the geneticist to enable her to make an ‘informed choice’. In the genetic counselling clinic, the young physician gave her the input he considered necessary for her decision-making task: he ascertained her risk status, added a few more risks she had been unaware of, then listed her options – which basically boiled down to having the test or not – and finally spelled out the chances and risks associated with each option. Ms C found out that being pregnant means having to make decisions in the shadow of risk: Either she takes the risk of delivering a disabled child, the counsellor tells her, or she accepts the risk of inducing a miscarriage. And if the amniocentesis does not provide the green light she hopes for, she will have to consider terminating the pregnancy. But all this is for her and her husband
to decide, as the genetic counsellor repeatedly clarifies: ‘You have to make the decision, since we do not bear the consequences.’
