J. Clin. Med. 2014, 3(1), 280-309; doi:10.3390/jcm3010280
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Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

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Received: 22 January 2014; in revised form: 12 February 2014 / Accepted: 18 February 2014 / Published: 17 March 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract: Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD) has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH), to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.
Keywords: preimplantation genetic diagnosis; chromosomal microarray; embryo biopsy; next generation sequencing; inherited genetic disorders
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MDPI and ACS Style

Stern, H.J. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. J. Clin. Med. 2014, 3, 280-309.

AMA Style

Stern HJ. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. Journal of Clinical Medicine. 2014; 3(1):280-309.

Chicago/Turabian Style

Stern, Harvey J. 2014. "Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential." J. Clin. Med. 3, no. 1: 280-309.

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