title: Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization.
abstract: The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.
authors.affiliation: Unité de Cytogénétique, Hôpital Robert Debré, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Cacheux
authors.forename: G
authors.initials: G
authors.lastname: Tachdjian
authors.forename: L
authors.initials: L
authors.lastname: Druart
authors.forename: J F
authors.initials: JF
authors.lastname: Oury
authors.forename: S
authors.initials: S
authors.lastname: Sérero
authors.forename: P
authors.initials: P
authors.lastname: Blot
authors.forename: C
authors.initials: C
authors.lastname: Nessmann
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D015342:DNA Probes; D004276:DNA, Satellite; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite