Preimplantation genetic diagnosis and screening: Current status and future challenges

Hsin-Fu Chen; Shee-Uan Chen; Gwo-Chin Ma; Sung-Tsang Hsieh; Horng-Der Tsai; Yu-Shih Yang; Ming Chen

doi:10.1016/j.jfma.2017.08.006

Preimplantation genetic diagnosis and screening: Current status and future challenges

J Formos Med Assoc. 2018 Feb;117(2):94-100. doi: 10.1016/j.jfma.2017.08.006. Epub 2017 Sep 6.

Authors

Hsin-Fu Chen¹, Shee-Uan Chen², Gwo-Chin Ma³, Sung-Tsang Hsieh⁴, Horng-Der Tsai⁵, Yu-Shih Yang⁶, Ming Chen⁷

Affiliations

¹ Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
² Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan.
³ Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Institute of Biochemistry, Microbiology and Immunology, Chung Shan Medical University, Taichung, Taiwan; Department of Medical Laboratory Science and Biotechnology, Central Taiwan University of Science and Technology, Taichung, Taiwan.
⁴ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Anatomy and Cell Biology, College of Medicine, National Taiwan University, Taipei, Taiwan; Graduate Institute of Brain and Mind Sciences, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁵ Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
⁶ Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan; Department of Obstetrics and Gynecology, Fu-Jen Catholic University Hospital, New Taipei, Taiwan.
⁷ Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Life Science, Tunghai University, Taichung, Taiwan. Electronic address: mingchenmd@gmail.com.

PMID: 28888353
DOI: 10.1016/j.jfma.2017.08.006

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.

Keywords: Aneuploidy; Implantation rate; Monogenic inherited disorders; PGD; PGD-A; PGS.

Publication types

Review

MeSH terms

Aneuploidy
Blastocyst
Embryo Transfer
Female
Fertilization in Vitro / methods*
Genetic Diseases, Inborn / diagnosis*
Genetic Testing / ethics
Genetic Testing / methods*
Humans
Pregnancy
Preimplantation Diagnosis / ethics
Preimplantation Diagnosis / trends*
Taiwan