OBJECTIVE: This study aims to evaluate the diagnostic yield of comparative genomic hybridization microarrays (aCGH) and compare it with conventional karyotype analysis of standard >5-Mb resolution. METHOD: A total of 1763 prenatal samples were analyzed by aCGH (CytoChip Focus Constitutional microarrays, BlueGnome, Cambridge). The diagnostic yield of @entity2008 detected by aCGH was assessed, compared with conventional karyotype analysis. RESULTS: The result was pathogenic/unknown penetrance in 125 cases (7.1%), and a @entity25390 ( @entity25390 ) was detected in 13 cases (0.7%). Out of the 125 cases with abnormal findings, 110 were also detected by conventional karyotype analysis. The aCGH increment in diagnostic yield was 0.9% (15/1763) and 1.6% when @entity25390 were included. Stratifying the sample according to indications for prenatal invasive testing, the highest values of diagnostic yield increment were observed for @entity1 positive for second-trimester sonographic markers (1.5%) and for the presence of @entity2241 (1.3%). In contrast, the incremental yield was marginal in @entity1 with fetus with increased nuchal translucency (0.5%). CONCLUSION: The present study indicates that routine implementation of aCGH offers an incremental yield over conventional karyotype analysis, which is also present in cases with 'milder' indications, further supporting its use as a first-tier test.    2015 John Wiley _ Sons, Ltd.

Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of XXXX . Clinical experience of 1763 prenatal cases.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormalities'] @entity2241 :: ('MESH:D005315', 'Disease') :: ['fetal structural anomalies'] @entity25390 :: ('MESH:D009382', 'Disease') :: ['VOUS', 'variant of unknown significance']
@entity2008 :: (MESH:D002869,Disease) :: ['chromosomal abnormalities']
