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Review
. 2014 Mar 17;3(1):280-309.
doi: 10.3390/jcm3010280.

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

Harvey J Stern  1   2
Affiliations
Review

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

Harvey J Stern. J Clin Med. .

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: chromosomal microarray; embryo biopsy; inherited genetic disorders; next generation sequencing; preimplantation genetic diagnosis.

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Figures

Figure 1
Figure 1
Pre-PGD workup for a family with a previous child with spinal muscular atrophy. Panel (a) shows how the study of both parents and grandparents allows the phasing of the SMN mutation relative to polymorphic short tandem repeat (STR) markers; panel (b) shows the maternal and paternal haplotypes M1, M2, P1 and P2 and the distance of the STR markers from the SMN gene; panel (c) shows the four predicted fetal haplotypes. These reflect a Hardy–Weinberg equilibrium of one homozygous non-carrier, two heterozygous carriers and one that is homozygous and affected. Short tandem repeat markers linked with the SMN mutation are shown in red. DEL indicates the presense of the exon 7 (840 C>T) mutation.
Figure 2
Figure 2
Array comparative genomic hybridization (aCGH) tracing after trophectoderm biopsy: (a) normal male embryo (female embryo control in blue); (b) female embryo with monosomy for chromosome 20 (male control in red); (c) an excellent quality blastocyst showing chaotic chromosome abnormalities. Nearly every chromosome is aneuploid.
See this image and copyright information in PMC

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