Clinical re-biopsy of segmental gains—the primary source of preimplantation genetic testing false positives

[1]  C. Rubio,et al.  PGDIS position statement on the transfer of mosaic embryos 2021. , 2022, Reproductive biomedicine online.

[2]  F. Spinella,et al.  Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. , 2021, Fertility and sterility.

[3]  H. Tournaye,et al.  Multiple vitrification-warming and biopsy procedures on human embryos: clinical outcome and neonatal follow-up of children. , 2020, Human reproduction.

[4]  K. Choy,et al.  The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis , 2020, Genes.

[5]  Chun-Chia Huang,et al.  Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does It Matter? , 2020, Journal of clinical medicine.

[6]  L. Gianaroli,et al.  Permanence of de novo segmental aneuploidy in sequential embryo biopsies. , 2020, Human reproduction.

[7]  C. Simón,et al.  Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos. , 2020, American journal of human genetics.

[8]  J. Horák,et al.  Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies , 2020, Molecular human reproduction.

[9]  C. Jalas,et al.  When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy , 2019, Journal of Assisted Reproduction and Genetics.

[10]  C. Rubio,et al.  PGDIS Position Statement on the Transfer of Mosaic Embryos 2019. , 2019, Reproductive biomedicine online.

[11]  B. Lawrenz,et al.  The clinicians´ dilemma with mosaicism-an insight from inner cell mass biopsies. , 2019, Human reproduction.

[12]  D. Griffin,et al.  One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies. , 2019, Fertility and sterility.

[13]  Chunmin Wang,et al.  Transfer of embryos with segmental mosaicism is associated with a significant reduction in live-birth rate. , 2019, Fertility and sterility.

[14]  G. Lu,et al.  Prevalence and authenticity of de-novo segmental aneuploidy (>16 Mb) in human blastocysts as detected by next-generation sequencing. , 2018, Reproductive biomedicine online.

[15]  L. Rienzi,et al.  Inconclusive chromosomal assessment after blastocyst biopsy: prevalence, causative factors and outcomes after re-biopsy and re-vitrification. A multicenter experience , 2018, Human reproduction.

[16]  M. Traversa,et al.  Challenges in interpreting the relevance of segmental mosaicism detected by NGS , 2018 .

[17]  M. Gordon,et al.  Cellular Stress Associated with Aneuploidy. , 2018, Developmental cell.

[18]  M. Traversa,et al.  Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes. , 2017, Fertility and sterility.

[19]  D. Wells,et al.  The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos , 2017, Human reproduction.

[20]  L. Arends,et al.  Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis , 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[21]  D. Wells,et al.  Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts , 2017, Human Genetics.

[22]  Parveen Kumar,et al.  Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential , 2016, Nature Communications.

[23]  P. Padakannaya,et al.  Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization. , 2015, Genetics research.

[24]  G. Lin,et al.  Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening. , 2014, Fertility and sterility.

[25]  P. Boyd,et al.  Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe , 2012, European Journal of Human Genetics.

[26]  M. Traversa,et al.  A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. , 2010, Molecular human reproduction.

[27]  Tomas W. Fitzgerald,et al.  Origins and functional impact of copy number variation in the human genome , 2010, Nature.

[28]  Geert Verbeke,et al.  Chromosome instability is common in human cleavage-stage embryos , 2009, Nature Medicine.

[29]  G. Voglino,et al.  De novo balanced chromosome rearrangements in prenatal diagnosis , 2009, Prenatal diagnosis.

[30]  R. Jansen,et al.  Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations , 2008, Prenatal diagnosis.

[31]  D. Warburton,et al.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.

[32]  N. Treff,et al.  Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations. , 2017, Fertility and sterility.

[33]  Ashok Agarwal,et al.  Cryopreservation of Mammalian Gametes and Embryos , 2017, Methods in Molecular Biology.