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RESEARCH PRODUCT

Molecular biology approaches utilized in preimplantation genetics: real-time PCR, microarrays, next-generation sequencing, karyomapping, and others

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Abstract Over the past few decades the development of new molecular technologies has revolutionized diagnosis in the reproductive medicine field, with the evaluation of the two main factors involved in a successful pregnancy: the embryo and the endometrium. The detection of genetically abnormal embryos, as well as the identification of an optimum endometrium using transcriptomics have become a priority in assisted reproductive treatments to increase pregnancy rates. This chapter provides an overview of the molecular techniques currently employed in assisted reproduction for embryo evaluation such as preimplantation genetic testing karyotyping, fluorescence in situ hybridization, polymerase chain reaction, comparative genomic hybridization array, single-nucleotide polymorphism array, karyomapping, and next-generation sequencing; and for endometrial evaluation through gene expression—real-time polymerase chain reaction, DNA microarrays, and RNA-Seq. In each section, the reader will find a detailed description of the molecular principles of each technique, together with examples of its applications in clinical practice.