Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2017
Abstract: To investigate the interchromosomal effect (ICE) in chromosome translocation carriers. read more here.
Keywords: exploration interchromosomal; preimplantation genetic; testing structural; effects preimplantation ... See more keywords
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5185
Abstract: To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of in vitro fertilization‐derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT‐A). read more here.
Keywords: genetic testing; monosomy; testing aneuploidy; preimplantation genetic ... See more keywords
Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review
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DOI: 10.1002/pd.6084
Abstract: To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS). read more here.
Keywords: clinical outcomes; preimplantation genetic; genetic testing; systematic review ... See more keywords
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6089
Abstract: The adoption of massively parallel short‐read DNA sequencing methods has greatly expanded the scope and availability of genetic testing for inherited diseases. Indeed, the power of these methods has encouraged the integration of whole genome… read more here.
Keywords: preimplantation genetic; diagnosis; genetic diagnosis; diagnosis long ... See more keywords
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders
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DOI: 10.1002/pd.6263
Abstract: Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub‐optimal PGT strategies, testing and reporting of results, which can be shared… read more here.
Keywords: preimplantation genetic; quality; genetic testing; years assessing ... See more keywords
Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-019-01595-7
Abstract: To investigate the validity, accuracy, and clinical outcomes of Karyomapping in preimplantation genetic testing (PGT) for β-thalassemia combined with human leukocyte antigen (HLA) matching. A total of 128 cycles from January 2014 to December 2017… read more here.
Keywords: genetic testing; karyomapping preimplantation; hla; thalassemia combined ... See more keywords
The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS)
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-020-02054-4
Abstract: Purpose To evaluate the factors that affect the incidence of euploid balanced embryos and interchromosomal effect (ICE) in carriers of different structural rearrangements. Methods This retrospective study includes 95 couples with reciprocal translocations (RecT) and… read more here.
Keywords: rect carriers; undergoing preimplantation; structural rearrangements; embryo ... See more keywords
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02126-z
Abstract: To determine whether next-generation sequencing (NGS) could be used to directly detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation genetic testing (PGT). From Sep. 2016 to Aug. 2018, a total of six couples… read more here.
Keywords: genetic testing; muscular dystrophy; preimplantation; ngs based ... See more keywords
Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02354-3
Abstract: To explore inheritance of the m.3697G > A mitochondrial DNA (mtDNA) mutation and the effectiveness of preimplantation genetic diagnosis (PGD) for the carrier. The study encompassed a pedigree of m.3697G > A mtDNA mutation, including one asymptomatic patient who… read more here.
Keywords: mutation load; preimplantation genetic; 3697g mitochondrial; mitochondrial dna ... See more keywords
Pregnancy and child developmental outcomes after preimplantation genetic screening: a meta-analytic and systematic review
Sign Up to like & getrecommendations! Published in 2018 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-018-0172-4
Abstract: BackgroundIn in vitro fertilization (IVF) treatment, preimplantation genetic diagnosis/screening (PGD/S) attempts to detect chromosomal abnormalities in embryos before implantation. Using the meta-analytic and qualitative review approaches, this study aims to evaluate the effect of PGD/S… read more here.
Keywords: pregnancy; meta analytic; screening; preimplantation genetic ... See more keywords
Perinatal Outcomes of Singleton Live Births Following Preimplantation Genetic Testing for Chromosomal Structural Rearrangements in Single Frozen-Thawed Blastocyst Transfer Cycles: a Retrospective Cohort Study
Sign Up to like & getrecommendations! Published in 2021 at "Reproductive Sciences"
DOI: 10.1007/s43032-021-00732-x
Abstract: This study investigated whether singleton pregnancies conceived after preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) are associated with a higher risk of adverse perinatal outcomes than singleton pregnancies conceived after intracytoplasmic sperm injection (ICSI).… read more here.
Keywords: genetic testing; singleton; perinatal outcomes; preimplantation genetic ... See more keywords