Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics.
Gynecol Endocrinol. 2014 Oct;30 Suppl 1:13-6.
Korostelev S, et al.
The authors examined the benefits of combining non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics. Data from 1,968 pregnant women was collected for the study. The authors determined that NIPT is more suitable and efficient for the detection of aneuploidy, but that the test has limitations for the detection of deletions and duplications. They found that using CMA for confirming NIPT findings or as a first test for women with ultrasound abnormalities can detect small imbalances in chromosomes, and concluded that the combination of NIPT and CMA allows a higher prenatal detection of chromosomal abnormalities.
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.
J Pediatr (Rio J). 2014 Sep 5. [Epub ahead of print]
Dorfman L, et al.
The authors set out to identify chromsomal imbalances associated with congenital anomalies of unknown origin. They genotyped 35 samples using a whole-genome comparative genomic hybridization microarray. They determined that array CGH provided a higher rate of detection of chromosomal anomalies, and argued that this determination is valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained.
Identification of QTLs for behavioral reactivity to social separation and humans in sheep using the OvineSNP50 BeadChip.
BMC Genomics. 2014 Sep 9;15(1):778. [Epub ahead of print]
Hazard D, et al.
The authors genotyped 934 Romane lambs using the Illumina OvineSNP50 BeadChip and correlated the data with standard behavioral tests. Their results indicated that in domestic sheep the behavioral responses to social separation and exposure to humans are under polygenic influence. The most relevant quantitative trait loci contained candidate genes previously described to be associated with various emotional and social behaviors in mammals, the authors noted.