ABSTRACT
The prenatal diagnosis of aneuploidy (numerical chromosome anomalies) has evolved into an issue that is addressed during most pregnancies in the developed world. For the moment, the exclusion of aneuploidy is probably the most common practical application of genetic testing. The rapid technical advances and rather complex test approaches, combined with the need to care for individuals from very different cultural, social and educational backgrounds, have created a situation where communication with patients in order to obtain ‘informed consent’ is a growing challenge. The duty to inform or disclose is, however, an almost universally recognized legal and ethical principle in western democratic societies, and it certainly applies to elective diagnostic procedures. National laws, professional guidelines and statements of ethics boards usually provide a general framework but offer little guidance on practical solutions in daily patient care. Major changes in the way disclosure issues are considered have been induced by court rulings in various countries following charges of negligence. This kind of individual ex post definition of how information should have been provided is a burden for patients and their doctors. A preoccupation with legal issues may also draw attention away from fundamental ethical standards in patient care. This chapter contains a brief summary of current evidence-based established options in prenatal risk assessment and diagnosis of aneuploidy. For a complete review and discussion of the scientific evidence the reader should consult the excellent standard reference edited by A. Milunsky (2004), currently available in its 5th edition.
