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Review

Application of preimplantation genetic diagnosis and screening in assisted reproduction

, &
Pages 103-110 | Published online: 10 Jan 2014
 

Abstract

Preimplantation genetic diagnosis was introduced initially to identify embryos with a certain genetic disease in couples with the risk of passing that disease onto their children. Currently, this method is more often applied to the detection of chromosomal aneuploidies in oocytes and embryos of couples undergoing assisted reproductive treatment. The development of new diagnostic procedures, such as comparative genomic hybridization, allows the simultaneous detection of numerical and structural errors in all human chromosomes. Future efforts will definitely lead to the introduction of microarray procedures that will diagnose chromosomal, as well as genetic, disorders or predispositions in a single reaction and with high resolution. This could have an impact on reproduction and could have important ethical and social implications for our attitude towards the management, for example, of late-onset diseases.

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