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
2014
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Molecular Cytogenetics 2014, 7: 84. PMID: 25530804, PMCID: PMC4271441, DOI: 10.1186/s13039-014-0084-5.Peer-Reviewed Original ResearchPrenatal ultrasound findingsUltrasound findingsMultiplex ligation-dependent probe amplificationCri du chat syndromeArray comparative genomic hybridization analysisComparative genomic hybridization analysisCytogenomic abnormalitiesLigation-dependent probe amplificationGenomic hybridization analysisMb deletionJacobsen syndromeGenetic counselingChat syndromeAbnormal ultrasound findingsPost-test genetic counselingMb duplicationPaternal balanced translocationSplit hand/foot malformationProbe amplificationACGH analysisMaternal screeningSpontaneous abortionPrenatal casesClinical utilityBackgroundThe aims