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Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
Author(s) -
Shaffer Lisa G.,
Coppinger Justine,
Alliman Sarah,
Torchia Beth A.,
Theisen Aaron,
Ballif Blake C.,
Bejjani Bassem A.
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2053
Subject(s) - prenatal diagnosis , chromosome abnormality , population , abnormality , comparative genomic hybridization , chromosomal abnormality , medicine , cytogenetics , obstetrics , chromosome , karyotype , fetus , biology , genetics , pregnancy , gene , environmental health , psychiatry
Objective To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing. Methods Array comparative genomic hybridization (aCGH) analysis was performed for 151 prenatal cases and compared with the results from 1375 postnatal cases less than 3 months of age. Results Two of 151 prenatal cases (1.3%) showed a clinically significant cytogenetic abnormality. In contrast, of the 1375 postnatal cases studied, 11.4% showed a cytogenetic abnormality by aCGH. Many of these (40%) were referred for aCGH because of dysmorphic features, a clinical indication unlikely to be identified in the prenatal population. Conclusions The chance of detecting a chromosome abnormality in a prenatal population that has already been screened by routine cytogenetics is ∼1.3%. However, given that many of the abnormal array results in the neonatal population were among those with dysmorphic features as the primary indication for testing, which are not easily identifiable by ultrasound, offering prenatal testing by aCGH to a wider population would likely result in a higher detection rate. Copyright © 2008 John Wiley & Sons, Ltd.