A rare case of a false-negative finding in both direct and culture of a chorionic villus sample.
A discrepancy is reported between the karyotype of both direct and cultured chorionic villus cells (46,XX) and a fetal skin biopsy (47,XX, +18). The significance of this result is discussed and compared with similar discordant findings reported in the literature.
Pindar
L
L
Department of Cytogenetics, City Hospital, Nottingham, U.K.
Whitehouse
M
M
Ocraft
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005188:False Negative Reactions; D005260:Female; D005313:Fetal Death / Q000209:etiology; D006801:Humans; D007621:Karyotyping; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D012867:Skin / Q000648:ultrastructure; D014314:Trisomy; D016216:Ultrasonography, Prenatal