title: Down syndrome at birth not detected by first-trimester chorionic villus sampling.
abstract: A case of a false-negative first-trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h-cultured chorionic villi obtained in week 12 of gestation showed a normal chromosome constitution. However, the newborn showed manifestations of Down syndrome, and 99 of 100 metaphases analysed from cultured lymphocytes showed 47, XY, + 21. The remaining metaphase was normal (46, XY).
authors.affiliation: Institut für Humangenetik, Universität Göttingen, Federal Republic of Germany.
authors.forename: I
authors.initials: I
authors.lastname: Bartels
authors.forename: I
authors.initials: I
authors.lastname: Hansmann
authors.forename: U
authors.initials: U
authors.lastname: Holland
authors.forename: B
authors.initials: B
authors.lastname: Zoll
authors.forename: R
authors.initials: R
authors.lastname: Rauskolb
mesh_terms: D015193:Chorionic Villi Sampling; D004314:Down Syndrome / Q000175:diagnosis*; D005188:False Negative Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011261:Pregnancy Trimester, First