Evans M I, Klinger K W, Isada N B, Shook D, Holzgreve W, McGuire N, Johnson M P
Department of Obstetrics and Gynecology, Wayne State University/Hutzel Hospital, Detroit, MI 48201.
Am J Obstet Gynecol. 1992 Dec;167(6):1522-5. doi: 10.1016/0002-9378(92)91731-o.
This series was designed to assess in a pilot study the feasibility of using fluorescence in situ hybridization on chorionic villi.
We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copylike signal when used in conjunction with suppression hybridization.
In a blind series of 47 samples all, including one trisomy 21, were correctly identified. The samples were correctly classified as disomic for five chromosomes.
The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization and detection allowed accurate chromosome enumeration in uncultured human chorionic villi; these results are consistent with those obtained by traditional cytogenetic analysis and suggest a use for fluorescence in situ hybridization as an adjunct to karyotyping when rapid results are needed.
