Preimplantation genetic diagnosis and screening: Current status and future challenges
Journal
Journal of the Formosan Medical Association
Journal Volume
117
Journal Issue
2
Pages
94-100
Date Issued
2018
Author(s)
Abstract
Preimplantation genetic diagnosis (PGD) is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted the diseases to the future offsprings. The major technical hurdle is it does not have a general formula for all mutations, thus different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scarce, whereas timely result is sometimes requested if fresh embryo transfer is desired. On the other hand, preimplantation genetic screening (PGS) screens embryo with aneuploidy and was also known as PGD-A (A denotes aneuploidy) in order to enhance the implantation rates as well as livebirth rates. In contrasts to PGD, PGS is still under ferocious debate, especially recent reports found that euploid babies were born after transferring the aneuploid embryos diagnosed by PGS back to the womb and only very few randomized trials of PGS are available in the literature. We have been doing PGD and/or PGS for more than 10 years as one of the core PGD/PGS laboratories in Taiwan. Here we provide a concise review of PGD/PGS regarding its current status, both domestically and globally, as well as its future challenges. ? 2017
SDGs
Other Subjects
DNA; aneuploidy; biopsy; comparative genomic hybridization; diagnostic accuracy; embryo transfer; gene locus; gene mutation; genetic screening; genotype; human; inheritance; live birth; polymerase chain reaction; preimplantation genetic diagnosis; quantitative analysis; Review; Taiwan; blastocyst; ethics; female; genetic disorder; genetic screening; in vitro fertilization; pregnancy; preimplantation genetic diagnosis; procedures; trends; Aneuploidy; Blastocyst; Embryo Transfer; Female; Fertilization in Vitro; Genetic Diseases, Inborn; Genetic Testing; Humans; Pregnancy; Preimplantation Diagnosis; Taiwan
Publisher
Elsevier B.V.
Type
review