Abstract
Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is required. In the last two decades, embryo biopsy at the cleavage stage has been the mostly performed procedure. However, recently, alternative methods allowing the retrieval of a larger number of cells (blastocyst stage biopsy), or representing a valid alternative to overcome ethical issues (polar body biopsy) have obtained increasing consensus. This article reviews different methods of embryo biopsy and points out their positive and negative aspects.
Highlights
Preimplantation Genetic Diagnosis (PGD) has been conceived as an alternative to fetal prenatal diagnosis
PGD can be used to perform sex selection for non-medical reasons, [3,4] to detect mutations that can predispose to specific diseases [5], to detect late-onset neurodegenerative disorders such as Huntington’s disease [5,6] and for HLA typing [7]
In order to obtain genetic material on which carry out genetic diagnosis, both PGD and Preimplantation Genetic Screening (PGS) require the procedure known as biopsy which consists in the removal of one or more cells from the embryo/oocyte to be diagnosed
Summary
Preimplantation Genetic Diagnosis (PGD) has been conceived as an alternative to fetal prenatal diagnosis. Most of them are fertile, but have been diagnosed with a specific genetic disease and this technique offers them the possibility to know the health status of their embryos before undertaking the pregnancy [1] In many cases, they have a previous history of recurrent miscarriages of genetic origin or affected pregnancy terminations following invasive prenatal diagnosis procedure such as amniocentesis or chorionic villus sampling [2]. In this case, the methodology is named Preimplantation Genetic Screening (PGS) or PGD for aneuploidy screening [9]. These techniques are array-comparative genomic hybridization (array-CGH) and single nucleotide polymorphism arrays (SNP-arrays)
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