Comparative genomic hybridization - A new tool for reproductive pathology

Objective.-To demonstrate the effectiveness of comparative genomic hybridiz ation (CGH) for analysis of reproductive pathology specimens in clinical cy togenetics laboratories. Design.-A total of 856 CGH analyses were performed on various placental and fetal tissues derived from 368 specimens of spontaneous abortions and on p lacentas from 219 pregnancies with live-horn infants. The live-born infants were clinically evaluated as normally developed, with either a normal birt h weight or with intrauterine growth restriction; some live-born infants ha d an abnormal prenatal triple screen with normal cytogenetic results on amn iotic fluid cell cultures. Results.-Comparative genomic hybridization analysis was successfully perfor med on 856 samples from spontaneously aborted specimens and term placentas. Failure of analysis occurred in 1.6% of samples and was due to an insuffic ient amount of tissue for DNA extraction. Comparative genomic hybridization identified aneuploidy in 53% of spontaneous abortion samples and 3.1% of t erm placentas. Conclusions.-Comparative genomic hybridization analysis is a useful clinica l tool for defection of aneuploidy in placental and fetal tissues. It provi des a genome-wide screen while eliminating tissue culture failures, culture artifacts, and maternal cell contamination. We present practical guideline s for interpreting CGH profiles derived from human reproductive specimens.