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
2019
Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
Chai H, DiAdamo A, Grommisch B, Boyle J, Amato K, Wang D, Wen J, Li P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Medical Sciences 2019, 7: 16. PMID: 30678103, PMCID: PMC6410168, DOI: 10.3390/medsci7020016.Peer-Reviewed Original ResearchArray comparative genomic hybridizationPathogenic copy number variantsMosaic patternStructural chromosomal rearrangementsChromosomal structural rearrangementsCopy number variantsComparative genomic hybridizationChromosomal rearrangementsGenomic imbalancesCommon aneuploidiesNumber variantsCellular proliferationIntegrated fishGenomic hybridizationFishSitu hybridizationStructural rearrangementsReflex FISHStructural chromosomal abnormalitiesSex chromosome aneuploidyACGH analysisChromosome aneuploidyAneuploidyCell culturesHybridization