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- W2022089314 abstract "Cytogenetic analysis utilizing microarray-based technologies has become an accepted adjunct to conventional chromosome testing. Indications include developmental delay, mental retardation, developmental disabilities such as seizures, and single or multiple malformations. This study was designed to compare the detection rate of chromosomal abnormalities by microarray analysis in a prenatal population with that of a neonatal population referred for diagnostic testing. Array comparative genomic hybridization (aCGH) analysis was carried out in 151 prenatal cases and in 1,375 postnatal infants who were less than 3 months of age. In the majority of prenatal cases, an ultrasound exam had identified a structural fetal anomaly. The most common indications for aCGH in the neonatal group were either isolated or multiple anomalies, each present in about one-third of cases, and dysmorphic features in about one-fifth of cases. A clinically significant cytogenetic abnormality was identified by aCGH testing in 2 of the 151 prenatal cases (1.3%) and 11.4% of the postnatal cases, of whom 41% had been referred because of dysmorphic features. Older infants had a lower incidence of abnormalities- especially trisomies and subtelomeric deletions- but this was not a significant difference. More than 70% of aCGH abnormalities found in neonates in this study would have gone undetected by routine cytogenetic analysis. It seems likely that the wider use of aCGH testing of fetuses before routine chromosomal analysis would increase the detection of chromosomal abnormalities prenatally. This approach identifies those abnormalities that are visible by light microscopy such as aneuploidy, marker chromosomes, and some telomeric deletions and unbalanced translocations, in addition to those requiring molecular techniques. The latter include microdeletions, most subtelomeric deletions, and many otherwise cryptic unbalanced translocations." @default.
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- W2022089314 date "2008-11-01" @default.
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- W2022089314 title "Comparison of Microarray-Based Detection Rates for Cytogenetic Abnormalities in Prenatal and Neonatal Specimens" @default.
- W2022089314 doi "https://doi.org/10.1097/01.ogx.0000334735.13818.9a" @default.
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