Diagnosis of aneuploidy in arrival, paraffin-embedded pregnancy-loss tissues by comparative genomic hybridization

Objective: To evaluate the detection of aneuploidy in archival tissues from miscarriages by a method that uses microdissection and DNA extraction of v illus cells from paraffin blocks, followed by universal DNA amplification a nd comparative genomic hybridization (CGH). Design: Retrospective analysis. Setting: Academic medical center. Patient(s): Nine archival tissues from cases of spontaneous abortion with t risomy 16 (two cases), trisomy 21 (three cases), trisomy 22 (two cases), tr iploidy tone case), and monosomy X (one case). Intervention(s): Villus DNA was extracted from microdissected, formalin-fix ed, paraffin-embedded tissues. Aneuploidy was detected by CGH after univers al amplification of the DNA with the use of degenerate oligonucleotide-prim ed polymerase chain reaction. Main Outcome Measure(s): Detection of aneuploidy in archival pregnancy-loss tissues using CGH. Result(s): In all nine cases. DNA was successfully extracted from the micro dissected tissues and was of sufficient quantity and quality for evaluation by CGH, In six of nine cases, the chromosomal abnormality detected by conv entional cytogenetic analysis was identified by CGH: trisomy 16 (2/2), tris omy 21 (3/3), and trisomy 22 (1/2). One case of each of the following was n ot detectable: triploidy (1/1), monosomy X (1/1), and trisomy 22 (1/2). Conclusion(s): We propose CGH as a method for determination of aneuploidy i n pregnancy-loss archival tissues when conventional cytogenetic analysis is unsuccessful or when it was not performed when fresh tissue was available. (C)2001 by American Society for Reproductive Medicine.