Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic...

Chromosomal abnormalities (mostly aneuploidy) account for approximately 50% of fetal losses in the first 8-15 weeks of gestation. Cytogenetic analysis of aborted fetal material depends on conventional tissue culturing and karyotyping. This technique is laborious and is subject to problems including external contamination, culture failure and selective growth of maternal cells. Comparative genomic hybridization (CGH) was used to determine the chromosomal constitution of 27 fetuses arising from recurrent spontaneous abortion. In 12 samples, the CGH results were compared to the results obtained by conventional cytogenetic techniques. Correlation was found in 75% of samples. Overall, CGH detected chromosomal abnormalities in 48% of the samples, including trisomies, monosomies, and partial chromosome gains and losses. The preliminary data in this study show that CGH can be added, at least as a complementary method, to the traditional cytogenetic techniques used in the investigation of recurrent spontaneous abortions.