Prenatal genetic testing and potential consequences

Abstract Prenatal testing for genetic disorders is part of routine clinical practice. Trisomy 21 can now be detected with high sensitivity using non-invasive tests on maternal blood. In cases with other suspected genetic anomalies or structural malformations, invasive testing is required and can be performed with low risk of complications. Genetic analyses such as microarray and trio whole exome sequencing have led to improved diagnostic yield but can also cause uncertainty and difficult counselling situations. Prenatal testing for genetic disorders in the foetus raises ethical and legal questions: Some couples may wish to exercise their ‘right not to know’, while others might take legal action if a genetic abnormality that could have been diagnosed prenatally and would have justified termination of the pregnancy for the couple is only detected after birth. More recent approaches explore prenatal drug therapies based on specific disease-causing variants.