The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.
This qualitative study aims to describe the psychological impact of the diagnosis announcement of pathogenic Copy Number Variations (pCNVs). We performed semi-structured interviews of 60 parents of 41 affected children and 5 geneticists who announced the diagnoses. The diagnosis of the best characterized microdeletion syndromes, often defined by patronymic names (e.g. Williams syndrome), is generally made on a clinical basis by geneticists and confirmed by fluorescence in situ hybridization analysis. Chromosomal microarray, on the contrary, can allow the disclosure of rare pCNVs named after cytogenetic formulas, with poorly known clinical consequences: this makes doctors feel less confident with these diagnosis announcements. The disclosure of pCNVs named after cytogenetic formulas does not facilitate the parental mental representation of the disease, leading some parents to call into question the genotype-phenotype correlation or the very notion of a diagnosis. The announcement of inherited pCNVs can increase the feeling of parental guilt; the disclosure of de novo pCNVs can induce a feeling of "breakage" in the mental representation of the parent-child vertical transmission. In conclusion, our study shows that the disclosure of pCNVs has a significant psychological impact: a multidisciplinary approach to the diagnosis announcement, including a psychological support, should be systematically warranted.
Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.
Françoise
F
Houdayer
Marcela
M
Gargiulo
Martine
M
Frischmann
Audrey
A
Labalme
Evelyne
E
Decullier
Marie-Pierre
MP
Cordier
Sophie
S
Dupuis-Girod
Gaetan
G
Lesca
Marianne
M
Till
Damien
D
Sanlaville
Patrick
P
Edery
Massimiliano
M
Rossi
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D006801:Humans; D007223:Infant; D008297:Male; D010290:Parents / Q000523:psychology
Chromosomal microarray; Chromosome; Diagnosis; Psychological impact