Investigations in genetics counselling

the impact of the first notification - parental reaction to a deficiency

Abstract

The objective of the present study was to determine the impact caused by notification of genetic deficiencies and/or anomalies on the parents of affected children,as well as their reactions and feelings.The study was conducted on tem families referred to the Medical Genetics Outpatient Clinic of the University Hospital,Faculty of Medicine of Ribeirão Preto, University of São Paulo, for diagnosis and counselling. The emotional impact of the news was found to be very strong,triggering varios reactions such as shock and agressiveness.Guilt,denial and anger are some of the feelings experienced by the parents.The news is almost always given in an inadequate manner, preventing a proper understanding of the diagnosis. We may conclude that, regardless of the clinical picture, the parents feel the full impact of the news that their child has a genetic deficiency and/or anomaly.The suffering process is acute, with the parents going through a morning period for the loss of the expected child.