“Your son has Klinefelter syndrome.” How parents react to a prenatal diagnosis

Abstract

ABSTRACT The study investigates the experience of the parents of 48 children who have prenatally diagnosed with Klinefelter syndrome [KS] using a specifically developed questionnaire. Fifty percent of the participants were satisfied with the disclosure process, particularly those who received the diagnosis by an experienced geneticist. One of the aims of genetic and psychological counseling should be showing the advantages of a gradual and early disclosure with their child and underlining the possible advantages and disadvantages of spreading the diagnosis with other people to optimize support and minimize stigmatization.