Abstract
The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.
Highlights
A quarter of century has already passed since the first application of preimplantation genetic diagnosis (PGD) by Handyside in 1990 [1]
The aim of this review is to summarize the recent knowledge on preimplantation (PGD) and prenatal genetic diagnosis (PND) and the potential use of noninvasive testing of embryos and fetuses in the future
Cleavage stage Preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) could have negative impact on clinical outcome due to the embryo biopsy procedure whereas day 5 diagnosis allows the biopsy of cells that are not involved in the formation of the embryo rather than cells that may be committed to forming the inner cell mass (ICM) [11]
Summary
A quarter of century has already passed since the first application of preimplantation genetic diagnosis (PGD) by Handyside in 1990 [1]. In the beginning, this method was applied for monogenic diseases and sex-linked disorders. PGD could be offered for any disorder for which molecular testing can be performed. The point of this technique is the removal of cells from the preimplantation embryos in the IVF program, genetic testing of these cells, and replacement (or freezing) of normal embryos into the uterus. The aim of this review is to summarize the recent knowledge on preimplantation (PGD) and prenatal genetic diagnosis (PND) and the potential use of noninvasive testing of embryos and fetuses in the future
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