RESUMO
Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dicentric and bisatellited marker derived from chromosome 22. At birth the infant presented hypoplasia of the right kidney, hearing loss on the left side and bilateral preauricular pits and skin tags. At three years, growth and neurological development were normal.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 22 , Marcadores Genéticos , Adulto , Bandeamento Cromossômico , DNA/análise , Ossos Faciais/anormalidades , Feminino , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , TrissomiaRESUMO
This prospective and multi-centric study confirms the accuracy and the limitations of interphase FISH and shows that any cytogenetics laboratory can perform this technique. With regard to the technical approach, we think that slides must be examined by two investigators, because the scoring may be subjective. The main problem with the AneuVysion kit concerns the alpha satellite probes, and especially the chromosome 18 probe, which is sometimes very difficult to interpret because of the high variability of the size of the spots, and this may lead to false negative and uninformative cases. The best solution would be to replace these probes by locus-specific probes. Concerning clinical management, we offer interphase FISH only in very high-risk pregnancies or/and at late gestational age because of the cost of the test. We think that an aberrant FISH result can be used for a clinical decision when it is associated with a corresponding abnormal ultrasound scan. In other cases, most of the time, we prefer to wait for the standard karyotype.