0000000000243320

AUTHOR

Vanessa Peinado

showing 5 related works from this author

Clinical application of embryo aneuploidy testing by next-generation sequencing

2019

Abstract We review here the evolution in the field of embryo aneuploidy testing over the last 20 years, from the analysis of a subset of chromosomes by fluorescence in situ hybridisation to the transition toward a more comprehensive analysis of all 24 chromosomes. This current comprehensive aneuploidy testing most commonly employs next-generation sequencing (NGS). We present our experience in over 130 000 embryo biopsies using this technology. The incidence of aneuploidy was lower in trophectoderm biopsies compared to cleavage-stage biopsies. We also confirmed by NGS that embryo aneuploidy rates increased with increasing maternal age, mostly attributable to an increase in complex aneuploid …

Male0301 basic medicineTime FactorsNoninvasive Prenatal TestingAneuploidySingle Embryo TransferBiologyMiscarriageAndrology03 medical and health sciences0302 clinical medicinePregnancyRisk FactorsRecurrent miscarriagemedicineHumansGenetic TestingBlastocystPrecision MedicinePreimplantation DiagnosisGenetic testingPregnancy030219 obstetrics & reproductive medicinemedicine.diagnostic_testMosaicismHigh-Throughput Nucleotide SequencingCell BiologyGeneral MedicineAneuploidyEmbryo Transfermedicine.diseaseEmbryo transferBlastocyst030104 developmental biologymedicine.anatomical_structureReproductive MedicineCytogenetic AnalysisFemaleCell-Free Nucleic AcidsBiology of Reproduction
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False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3

2013

In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4. Single-cell day-4 arrayCGH diagnosis was then performed. A successful amplification was obtained in 97.4 % (37/38) of the day-4 cells analysed by arrayCGH. Day-3 FISH and day-4 arrayCGH diagnosis were concordant in 35/37 cases. The two discordant embryos were spread and all the cells from each embryo were re-analysed by FISH on day 5. The same error rate (2.7 %) for day-3 FISH and day-4 arrayCGH was obtained when comparing day-5 FISH re-analysis. After this pre-clinical phase, …

AdultBlastomeresmedicine.medical_specialtyTime FactorsPregnancy RateBiopsyConcordanceClinical pregnancyBiologySensitivity and SpecificityMiscarriagePregnancyarrayCGHDay-5 FISH re-analysisGeneticsmedicineChromosomes HumanHumansFalse Positive ReactionsEmbryo ImplantationGenetic TestingProspective StudiesIn Situ Hybridization FluorescenceGenetics (clinical)CryopreservationGynecologyComparative Genomic HybridizationReproducibility of ResultsObstetrics and GynecologyGeneral MedicineAneuploidyEmbryo Transfermedicine.diseaseBlastocystReproductive MedicineBlastomere biopsyBlastomere biopsyFish <Actinopterygii>Day-3 PGSFemaleFalse positive rateDevelopmental Biology
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New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

2014

The objective of this study was to evaluate the usefulness of comprehensive chromosome screening (CCS) using array comparative genomic hybridization (aCGH). The study included 1420 CCS cycles for recurrent miscarriage (n=203); repetitive implantation failure (n=188); severe male factor (n=116); previous trisomic pregnancy (n=33); and advanced maternal age (n=880). CCS was performed in cycles with fresh oocytes and embryos (n=774); mixed cycles with fresh and vitrified oocytes (n=320); mixed cycles with fresh and vitrified day-2 embryos (n=235); and mixed cycles with fresh and vitrified day-3 embryos (n=91). Day-3 embryo biopsy was performed and analyzed by aCGH followed by day-5 embryo tran…

AdultMalemedicine.medical_specialtyAbortion Habitualanimal structuresArticle SubjectAneuploidylcsh:MedicineTrisomyBiologyGeneral Biochemistry Genetics and Molecular BiologyPregnancyRecurrent miscarriagemedicineHumansAdvanced maternal ageOligonucleotide Array Sequence AnalysisGynecologyPregnancyComparative Genomic HybridizationGeneral Immunology and Microbiologylcsh:REmbryoGeneral Medicinemedicine.diseaseEmbryo TransferEmbryo MammalianEmbryo transferembryonic structuresOocytesClinical StudyFemaleTrisomyComparative genomic hybridization
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Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy.

2018

In this work we reviewed 18 years of experience using fluorescence in situ hybridization (FISH) for sperm aneuploidy testing. We evaluated parameters associated with increased numerical sperm chromosome abnormalities and determined the male contribution to embryo aneploidies in terms of reproductive outcome by increased sperm aneuploidy. This retrospective study analyzed data from 2008 sperm samples of infertile males undergoing FISH analysis because of clinical history of repetitive implantation failure, recurrent miscarriage, impaired sperm parameters, or mixed causes. Sperm concentration was the only sperm parameter associated with FISH results—we observed a gradual increase of abnormal …

0301 basic medicineInfertilityMaleendocrine systemmedicine.medical_treatmentAneuploidyFertilization in VitroBiologyIntracytoplasmic sperm injectionMale infertilityAndrology03 medical and health sciences0302 clinical medicinePregnancymedicineHumansSperm Injections IntracytoplasmicPrecision Medicinereproductive and urinary physiologyIn Situ Hybridization FluorescenceInfertility MalePreimplantation DiagnosisRetrospective StudiesChromosome AberrationsComparative Genomic Hybridization030219 obstetrics & reproductive medicineIn vitro fertilisationmedicine.diagnostic_testSperm Counturogenital systemHigh-Throughput Nucleotide SequencingEmbryoCell BiologyGeneral MedicineOligospermiamedicine.diseaseAneuploidySpermSpermatozoa030104 developmental biologyReproductive MedicineSperm MotilityFemaleFluorescence in situ hybridizationBiology of reproduction
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Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm fro…

2010

Objective To establish a baseline incidence of chromosomal abnormalities in testicular sperm of fertile men and to determine the best control sample for comparisons with azoospermic males to estimate their reproductive prognosis. Design Prospective study. Setting Infertility clinic. Patient(s) Sixteen obstructive azoospermic (OA) and 19 nonobstructive azoospermic patients (NOA). Control samples were ejaculated sperm from ten fertile donors and testicular sperm from ten other fertile donors. Intervention(s) Fluorescence in situ hybridization (FISH) in sperm. Main Outcome Measure(s) Sperm numerical abnormalities for chromosomes 13, 18, 21, X, and Y; ongoing implantation and pregnancy rates in…

AdultMaleendocrine systemmedicine.medical_specialtyPregnancy Ratemedicine.medical_treatmentAneuploidySemenBiologyTesticleIntracytoplasmic sperm injectionAndrologyPregnancyRisk FactorsTestismedicineHumansProspective StudiesSperm Injections Intracytoplasmicreproductive and urinary physiologyIn Situ Hybridization FluorescenceAzoospermiaGynecologyAzoospermiaPregnancymedicine.diagnostic_testurogenital systemIncidenceObstetrics and GynecologyMiddle AgedUniparental Disomymedicine.diseaseAneuploidyPrognosisSpermDiploidySpermatozoamedicine.anatomical_structureFertilityReproductive MedicineFemaleFluorescence in situ hybridizationFertility and sterility
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