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J. Clin. Med. 2014, 3(1), 280-309; doi:10.3390/jcm3010280

Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

1
Division of Reproductive Genetics, Genetics & IVF Institute, 3015 Williams Drive, Fairfax, VA 22031, USA
2
Departments of Obstetrics and Gynecology, Pediatrics and Human Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA
Received: 22 January 2014 / Revised: 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)
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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 preimplantation genetic diagnosis; chromosomal microarray; embryo biopsy; next generation sequencing; inherited genetic disorders
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Stern, H.J. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. J. Clin. Med. 2014, 3, 280-309.

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