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Preimplantation Genetic Screening and Diagnostic Testing

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Prenatal and Preimplantation Diagnosis

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Abstract

Preimplantation genetic diagnosis (PGD) can be performed for any single-gene disorder whose chromosomal location is known. More than 300 different single-gene conditions have been tested for, and worldwide testing has been performed in over 12,000 in vitro fertilization (IVF) cycles for this indication. Accuracy is high and embryo biopsy seems safe. Novel indications exist that are not possible with traditional prenatal genetic diagnosis. An example is HLA testing to identify a compatible embryo whose umbilical cord blood obtained at birth can be used for stem cell transplantation for an older, moribund sib. Other novel indications include non-disclosure testing to avoid transmission of a mutation for which the parent is at risk but does not wish to learn his/her genotype.

PGD to exclude chromosomal abnormalities is well accepted, increasingly so given recent diagnostic advances allowing information about all 24 chromosomes. Couples with a balanced chromosomal translocation can avoid unbalanced offspring and achieve a successful pregnancy much more quickly than with natural conception.

The rationale for PGD aneuploidy testing to detect aneuploidy and transfer only euploid embryos has long been unassailable, given that morphologically normal-appearing embryos can be aneuploid. PGD aneuploidy testing not only should decrease repeated pregnancy losses but increase liveborn pregnancy rates, especially in women in their late fourth and fifth decades. Array comparative genome hybridization (CGH) or single nucleotide polymorphisms (SNP)-based methods now allow all 24 chromosomes to be interrogated, unlike the situation existing when a series of randomized clinical trials (RCTs) failed to show benefit circa 2007. Laser-assisted 5–6 day trophectoderm biopsy is also now used to obtain embryonic DNA, as opposed to blastomere biopsy of the cleavage stage embryo. Contemporary results show significantly increased pregnancy rates and allow transfer of fewer embryos.

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  1. Department of Research and Grants, March of Dimes Foundation, 1275 Mamaroneck Avenue, White Plains, NY, 10605, USA

    Joe Leigh Simpson M.D.

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    Joann Paley Galst

  2. Department of Obstetrics and Gynecology; Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA

    Marion S. Verp

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Simpson, J.L. (2015). Preimplantation Genetic Screening and Diagnostic Testing. In: Paley Galst, J., Verp, M. (eds) Prenatal and Preimplantation Diagnosis. Springer, Cham. https://doi.org/10.1007/978-3-319-18911-6_2

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