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  • Title: Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.
    Author: Sullivan-Pyke C, Dokras A.
    Journal: Obstet Gynecol Clin North Am; 2018 Mar; 45(1):113-125. PubMed ID: 29428279.
    Abstract:
    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates.
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