2020
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
Xie X, Tan W, Li F, Carrano E, Ramirez P, DiAdamo A, Grommisch B, Amato K, Chai H, Wen J, Li P. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence. Molecular Genetics & Genomic Medicine 2020, 8: e1297. PMID: 32383339, PMCID: PMC7336728, DOI: 10.1002/mgg3.1297.Peer-Reviewed Original ResearchConceptsPositive predictive valueLarge case seriesNoninvasive prenatal screeningChromosomal microarray analysisCase seriesCytogenetic analysisMonosomy XPrenatal screening resultsPrenatal diagnosisMosaic patternSex chromosomal abnormalitiesEvidence-based approachReview of literaturePositive ratePrenatal genetic counselingSCA casesPredictive valueStructural abnormalitiesSystematic reviewCytogenetic testingPrenatal screeningSex chromosome abnormalitiesChromosomal abnormalitiesCase 2Case 1
2016
Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism