Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: An adjunct to long-term culture and karyotype

Mark I. Evans, Katherine W. Klinger, Nelson B. Isada, Donna Shook, Wolfgang Holzgreve, Nancy McGuire, Mark P. Johnson

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

Abstract

OBJECTIVE: This series was designed to assess in a pilot study the feasibility of using fluorescence in situ hybridization on chorionic villi,. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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 villa; 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.

Original languageEnglish
Pages (from-to)1522-1525
Number of pages4
JournalAmerican Journal of Obstetrics and Gynecology
Volume167
Issue number6
DOIs
StatePublished - Dec 1992
Externally publishedYes

Keywords

  • Prenatal diagnosis
  • chorionic villus sampling
  • chromosome abnormalities
  • fluorescence in situ hybridization
  • molecular diagnosis

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