2025
Impact of chorionic villus sampling volume on time to result and pregnancy management
Lee E, Kohari K, Wong J, Copel J. Impact of chorionic villus sampling volume on time to result and pregnancy management. The Journal Of Maternal-Fetal & Neonatal Medicine 2025, 38: 2522998. PMID: 40915916, DOI: 10.1080/14767058.2025.2522998.Peer-Reviewed Original ResearchConceptsChorionic villus samplingRetrospective cohort studyOutcome of delayPregnancy terminationPrimary outcomeRetrospective cohort study of patientsPatient careCohort study of patientsStudy of patientsLow-volume groupHigh-volume groupGenetic test resultsPregnancy managementVillus samplingKaryotype resultsSecondary outcomesPatientsPregnancyAdjusted modelsCareOutcomesAssociationDaysGroupKaryotype
2020
Chapter 12 Prenatal testing
Copel J, Kohari K, Merriam A. Chapter 12 Prenatal testing. 2020, 201-221. DOI: 10.1016/b978-0-12-816561-4.00012-0.ChaptersPrenatal testingMaternal-fetal medicineSecond-trimester screeningFirst-trimester screeningTime of deliveryWhole-exome sequencingChorionic villus samplingCurrent pregnancyCell-free fetal DNA screeningCertain patientsMaternal ageReproductive endocrinologyGenetic testingVillus samplingDNA screeningPatientsObstetricsSitu hybridizationScreeningTest optionsMedical GeneticsRiskGeneticsOptionsPregnancy
2015
The effect of chorionic villus sampling on the fraction of cell-free fetal DNA in maternal plasma
Samuel AR, Son M, Ananth CV, Wapner RJ. The effect of chorionic villus sampling on the fraction of cell-free fetal DNA in maternal plasma. The Journal Of Maternal-Fetal & Neonatal Medicine 2015, 29: 2654-2657. PMID: 26482407, DOI: 10.3109/14767058.2015.1095885.Peer-Reviewed Original ResearchConceptsChorionic villus samplingCell-free fetal DNAMaternal plasmaFetal DNABaseline fractionWeeks' gestationCVS groupFirst trimesterPregnant womenCVS patientsFree fetal DNAGenetic testingChorionic villiMean fractionComparison groupVillus samplingWomenPatientsCffDNADaysUltrasoundGroupSubjectsTrimesterGestation
2003
Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products
McKenzie L, Cisneros P, Torsky S, Bacino C, Buster J, Carson S, Simpson J, Bischoff F. Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products. American Journal Of Medical Genetics Part A 2003, 121A: 56-59. PMID: 12900903, DOI: 10.1002/ajmg.a.20159.Peer-Reviewed Original ResearchConceptsPreimplantation genetic diagnosisCryptic translocationMaternal age-related aneuploidyAge-related aneuploidyGenetic diagnosisChromosome 17 centromere probeSevere mental retardationChorionic villus samplingUnbalanced productsPregnancy terminationClinical reportsEmpiric riskVillus samplingTransferable embryosMental retardationFrequent modeNormal offspringDiagnosisChildrenReportTranslocationUnbalanced segregants
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