2023
P641: Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhang H, Jiang Y, Li P, Bale A. P641: Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine Open 2023, 1: 100697. DOI: 10.1016/j.gimo.2023.100697.Peer-Reviewed Original ResearchProducts of conceptionWhole-exome sequencingCohort studyPregnancy lossClinical utilityGenetic etiologyEtiology
2021
Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.Peer-Reviewed Original ResearchDetection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues
Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.Peer-Reviewed Original ResearchPathogenic copy number variantsAbnormality detection rateCytogenomic abnormalitiesCulture failureNormal karyotypeHigh diagnostic yieldProducts of conceptionCell contaminationMaternal cell contaminationMolecular inversion probesFresh fetal tissuesParaffin-embedded tissuesFalse-negative resultsFetal resultsRetrospective studyPregnancy lossDiagnostic yieldClinical utilityMaternal cellsFetal tissuesAbnormalitiesNegative resultsChromosomal imbalancesChromosome abnormalitiesUnbalanced structural chromosome abnormalities
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth