2023
Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study
Workalemahu T, Dalton S, Son S, Allshouse A, Carey A, Page J, Blue N, Thorsten V, Goldenberg R, Pinar H, Reddy U, Silver R. Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study. BJOG An International Journal Of Obstetrics & Gynaecology 2023, 131: 157-162. PMID: 37264725, PMCID: PMC10689565, DOI: 10.1111/1471-0528.17561.Peer-Reviewed Original ResearchConceptsCopy number variantsFetal structural malformationsAbnormal copy number variantsNumber variantsSingle nucleotide polymorphism arrayResearch Network StudyStillbirth casesDNA copy number variantsSpecific copy number variantsCardiac defectsPolymorphism arrayStructural malformationsSecondary analysisCraniofacial defectsGenesSpecific malformation typesFetal structural abnormalitiesWald chi-square testUnknown clinical significanceChi-square testKbSkeletal defectsBenign copy number variantsPathogenic deletionsClinical significance
2012
Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
Reddy UM, Page GP, Saade GR, Silver RM, Thorsten VR, Parker CB, Pinar H, Willinger M, Stoll BJ, Heim-Hall J, Varner MW, Goldenberg RL, Bukowski R, Wapner RJ, Drews-Botsch CD, O'Brien BM, Dudley DJ, Levy B. Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth. New England Journal Of Medicine 2012, 367: 2185-2193. PMID: 23215556, PMCID: PMC4295117, DOI: 10.1056/nejmoa1201569.Peer-Reviewed Original ResearchMeSH KeywordsChromosome AberrationsChromosome DisordersChromosomes, HumanGenetic TestingHumansKaryotypingOligonucleotide Array Sequence AnalysisSequence DeletionStillbirthConceptsGenetic abnormalitiesAntepartum stillbirthCongenital anomaliesMicroarray analysisStillbirth Collaborative Research NetworkCopy number variantsAnalysis of stillbirthPopulation-based studyKaryotype analysisResults of karyotypeGeographic catchment areaSingle nucleotide polymorphism arrayClinical significancePostmortem examinationNonviable tissueStillbirthTrue prevalenceFetal tissuesUnaffected personsAbnormalitiesKaryotype resultsMicroarray testingCollaborative research networksGenetic diagnosisPolymorphism array