Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?

被引:72
作者
Brezina, Paul R. [1 ,2 ,3 ]
Anchan, Raymond [4 ]
Kearns, William G. [2 ,5 ]
机构
[1] Vanderbilt Univ, Sch Med, Dept OB GYN, Nashville, TN 37212 USA
[2] AdvaGenix, Rockville, MD 20850 USA
[3] Fertil Associates Memphis, Memphis, TN USA
[4] Harvard Med Sch, Brigham & Womens Hosp, Div Reprod Endocrinol & Infertil, Dept OB GYN, Boston, MA USA
[5] Johns Hopkins Univ, Sch Med, GENET, Dept OB GYN, Baltimore, MD 21218 USA
关键词
Preimplantation; Genetic screening; PGS; Embryo; Recurrent pregnancy loss; Microarray; FISH; Next Generation; NGS; CGH; SNP; POLYMORPHISM SNP MICROARRAY; IN-VITRO FERTILIZATION; COMPARATIVE GENOMIC HYBRIDIZATION; SCREENING PGS; ARRAY-CGH; HUMAN EMBRYOS; MOSAICISM; DIAGNOSIS; TROPHECTODERM; BLASTOCYSTS;
D O I
10.1007/s10815-016-0740-2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The purpose of the review was to define the various diagnostic platforms currently available to perform preimplantation genetic testing for aneuploidy and describe in a clear and balanced manner the various strengths and weaknesses of these technologies. A systematic literature review was conducted. We used the terms "preimplantation genetic testing," "preimplantation genetic diagnosis," "preimplantation genetic screening," "preimplantation genetic diagnosis for aneuploidy," "PGD," "PGS," and "PGD-A" to search through PubMed, ScienceDirect, and Google Scholar from the year 2000 to April 2016. Bibliographies of articles were also searched for relevant studies. When possible, larger randomized controlled trials were used. However, for some emerging data, only data from meeting abstracts were available. PGS is emerging as one of the most valuable tools to enhance pregnancy success with assisted reproductive technologies. While all of the current diagnostic platforms currently available have various advantages and disadvantages, some platforms, such as next-generation sequencing (NGS), are capable of evaluating far more data points than has been previously possible. The emerging complexity of different technologies, especially with the utilization of more sophisticated tools such as NGS, requires an understanding by clinicians in order to request the best test for their patients.. Ultimately, the choice of which diagnostic platform is utilized should be individualized to the needs of both the clinic and the patient. Such a decision must incorporate the risk tolerance of both the patient and provider, fiscal considerations, and other factors such as the ability to counsel patients on their testing results and how these may or may not impact clinical outcomes.
引用
收藏
页码:823 / 832
页数:10
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