Primary prevention of congenital abnormalities

Abstract

Congenital abnormalities, i. e., structural congenital anomalies (the term birth defect is used in the USA) have two important distinguishing features: very early onset and defect condition therefore we have limited chance for complete recovery after medical intervention. For congenital abnormalities, therefore, prevention has the highest priority. In the past experts, mainly medical doctors had a pessimistic view concerning the prevention of congenital abnormalities. To tell the truth the contribution of primary prevention (i.e., the avoidance or neutralisation of causal factors) was small in the last decades because it was limited mainly to avoiding the recurrence of single gene defects by genetic counselling, teratogens due to rubella vaccination and the adverse effects of maternal disorders, e.g., diabetes mellitus (Czeizel et al., 1993). Among methods of secondary prevention, neonatal screening for phenylketonuria, congenital hypothyroidism and others is effective but these diseases occur infrequently. Another kind of the so-called secondary prevention is the detection of fetal defects followed by selective abortion; this activity and efficacy are growing dramatically. However, the question is whether the devastation of affected fetuses is a prevention or a particular form of euthanasia. Neural-tube defects can demonstrate this serious dilemma. In the 1980s, the introduction of maternal serum alpha-fetoprotein screening complemented with the ultrasound scanning provided an efficient method for the detection of anencephaly, encepholecele and spina bifida aperta/cystica. After this, however, informed potential parents have to choose between two evils, i.e., two bed things: to terminate their pregnancy which was planned but surely wanted that time of gestation or to have a seriously malformed baby with long-term medical and social consequences. At present the termination of pregnancy is the lesser evil for the great majority of European women.We have to accept their decision but we have to know that the selective abortion of a seriously affected fetus should be considered as a last resort rather than an optimal solution because actually it equals to the killing of a human being. The growing proportion of selective abortions overshadows the progress and the increas-