Prenatal tests to predict the risk of fetal chromosomal syndrome

Scientific, ethical and deontological aspects

Abstract

The prenatal diagnosis of syndromes caused by alterations of genetic information have been part of medical assistence for the last thirty years. Deontological criteria and ethical considerations about respect for the correct requirements and rights of the parents, on the one hand, and the safety of the human embryo, on the other hand, had led to the establishment of some precise indications for the execution of prenatal diagnosis: the mother was not to be more than 35-38 years old.

In the eugenic perspective which is prevailing in society, also supported by legislative measures, this criterion is considered insufficient because too many “undesired” subjects, affected by serious malformations, would still be part of it. Studies were therefore carried out in order to find other parameters with would reveal an increased risk of chromosomic pathology for the embryo or fetus quite early during the pregnancy, like the alfa-feto-protein test and triple test.

From the ethical point of view, although the research of a correct and efficient method to predict the risk for a fetus to be affected by a chromosomal syndrome is good, its application is good and licit when , and only when, the aim of the application is good, that is any eugenic perspective is absent, no harm can derive to the women, to the child and to society.

From the deontological point of view, given the conditions for a licit applications, it must be underlined mainly the obligation of informed consent to predictive test, that is, complete and accurate information and serious quality control, in other words a precise verification of the gestational age of the fetus and a correct definition of risk.