Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify @entity2008 in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. @entity2008 accounting for 68.0% of abnormal abortions, followed by @entity8338 (17.1%) and @entity2689 (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first @entity2208 , resulting in a chromosome aberration rate of 64.8%. The distribution of the different @entity2008 was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to @entity393 is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester @entity393 is nearly 70%.

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in XXXX .

@entity2208 :: ('MESH:D000022', 'Disease') :: ['trimester spontaneous abortions'] @entity8338 :: ('MESH:D057885', 'Disease') :: ['triploidy'] @entity2689 :: ('MESH:D014424', 'Disease') :: ['monosomy X'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['Trisomy was the predominant chromosome anomaly', 'chromosome anomalies'] @entity393 :: ('MESH:D034381', 'Disease') :: ['pregnancy loss']
@entity2208 :: (MESH:D000022,Disease) :: ['early spontaneous abortions']
