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In vitro fertilization (IVF) and aneuploidy

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Fetal aneuploidy can lead to developmental abnormalities as well as implantation failure after in vitro fertilization. Preimplantation genetic testing for aneuploidy (PGT-A) is designed to minimize these risks. 

PGT-A encompasses a range of methods, including comparative genomic hybridization, single nucleotide polymorphism array, quantitative PCR, and next-generation sequencing, using either a blastomere or trophectoderm cells from the blastocyst. These methods vary in their ability to detect partial aneuploidy (where one chromosomal portion is duplicated or absent in all cells), mosaicism, and partial mosaicism (where one cell line is euploid and the other is partial aneuploid). While advances in biopsy, screening, and embryo culture techniques have improved the efficacy and accessibility of PGT-A, there remains some debate over the evidence supporting its widespread use. 

This Collection will highlight original research on all aspects of IVF and aneuploidy, including current approaches in preimplantation genetic testing and the clinical implications of preimplantation aneuploidy and mosaicism.  

 
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IVF concept.  Close up view of needle inserting sperm into an embryo

Editors

  • Yasushi Hirota, MD, PhD

    Department of Obstetrics and Gynecology, Graduate School of Medicine, University of Tokyo, Japan

  • Michał Kunicki, MD, PhD

    Medical University of Warsaw, Poland INVICTA Fertility Clinic, Warsaw, Poland

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