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Preimplantation genetic diagnosis (PGD) includes a sequence of events conducted to select a genetically healthy embryo for transfer. Steps include IVF or ICSI followed by embryo biopsy, DNA isolation and amplification, analysis method and result preparation. In India approximately 10,000 babies are born annually with beta thalassemia major despite of so much advancement in diagnostic modalities.1 Beta thalassemia is an autosomal recessive disorder that occurs due to beta globin gene mutation. Pre implantation genetic diagnosis allows positive selection of unaffected embryos and hence a chance to couple to give birth to an unaffected child.
Keywords: Beta thalassemia; Embryo biopsy; Trophoectoderm; Whole genome amplification