Opinion on new method for risk assessment as a basis for decision-making in prenatal diagnosis

The Council has considered a new method using a combination of ultrasound and maternal biochemistry to determine the risk of chromosomal anomalies in the foetus. The result of this combined test contributes to the decision whether or not to offer/perform genetic prenatal diagnosis.

The method entails a risk assessment based on an early ultra sound screening (10-14th week), a blood sample and the age of the woman. It aims at giving a pregnant woman the best possible basis for her decision about genetic prenatal diagnosis, requiring samples either from the amniotic fluid or the placenta, and which carries a risk for miscarriage.

The combined test is an alternative to the method currently in use which is based on the statistical variation of chromosomal anomalies with the age of the woman. Genetic prenatal diagnosis is currently offered to woman above 35 years of age. The term “age indication” is used throughout the report for the current method.

Several counties are at present considering to introduce the combined test. In the report the Council discusses ethical aspects to consider while choosing between the two methods.

The Council concludes that the combined test is preferable to age indication. According to the Council the combined test does not threaten human dignity as long as it is made clear that both the combined test and the genetic prenatal diagnosis is an offer that the woman can accept or decline at her own discretion. How this information is communicated with the woman and her partner is hence of great importance. The procedure for this is discussed in the report.

It is likely that an introduction of combined test on a large scale will lead to a higher frequency of identified foetuses with chromosomal anomalies. This in turn might lead to fewer births of children with e.g. Down’s syndrome. The Council wants to emphasise that steps towards a more accurate prenatal diagnosis must not undermine society’s support for functionally disabled people.

Continued advances in prenatal diagnosis can be expected, e.g. methods based on the analysis of foetal cells or free DNA from the foetus in the woman’s blood. The Council intends to monitor the development in this area and stresses the importance of not introducing new methods without due attention to the ethical aspects.