Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

被引：11
作者：
Giuliano, Roberta [1 ]
Maione, Anna [2 ]
Vallefuoco, Angela [3 ]
Sorrentino, Ugo [4 ]
Zuccarello, Daniela [4 ]
机构：
[1] Univ Padua, Dept Womens & Childrens Hlth, Preimplantat Genet Diag, I-35128 Padua, Italy
[2] AOU Federico II, Maternal Child Dept, Fertil Unit, I-80131 Naples, Italy
[3] Univ Naples Federico II, Dept Clin Med & Surg, I-80138 Naples, Italy
[4] Univ Hosp Padova, Clin Genet & Epidemiol Unit, Via Giustiniani 3, I-35128 Padua, Italy
来源：
GENES | 2023年 / 14卷 / 11期
关键词：
preimplantation genetic testing; biopsy; pgt-m; pgt-a; pgt-sr; limits; WHOLE-GENOME AMPLIFICATION; CHROMOSOMAL MOSAICISM; TROPHECTODERM BIOPSY; PRACTICE GUIDELINES; EMBRYO BIOPSY; SINGLE-CELL; POLAR BODY; ESHRE PGD; DIAGNOSIS; TIME;
D O I：
10.3390/genes14112095
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk of transmitting genetic diseases. However, despite remarkable advancements, the implementation of PGT faces a series of limitations and challenges that require careful consideration. This review aims to foster a comprehensive reflection on the constraints of preimplantation genetic diagnosis, encouraging a broader discussion about its utility and implications. The objective is to inform and guide medical professionals, patients, and society overall in the conscious and responsible adoption of this innovative technology, taking into account its potential benefits and the ethical and practical challenges that it presents.
引用
收藏
页数：15
相关论文
共 44 条
  • [1] The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion
    Penzias A.
    Bendikson K.
    Butts S.
    Coutifaris C.
    Falcone T.
    Fossum G.
    Gitlin S.
    Gracia C.
    Hansen K.
    La Barbera A.
    Mersereau J.
    Odem R.
    Paulson R.
    Pfeifer S.
    Pisarska M.
    Rebar R.
    Reindollar R.
    Rosen M.
    Sandlow J.
    Vernon M.
    Widra E.
    [J]. FERTILITY AND STERILITY, 2018, 109 (03) : 429 - 436
  • [2] Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study
    Bay, Bjorn
    Ingerslev, Hans Jakob
    Lemmen, Josephine Gabriela
    Degn, Birte
    Rasmussen, Iben Anne
    Kesmodel, Ulrik Schioler
    [J]. FERTILITY AND STERILITY, 2016, 106 (06) : 1363 - +
  • [3] Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging
    Capalbo, Antonio
    Hoffmann, Eva R.
    Cimadomo, Danilo
    Ubaldi, Filippo Maria
    Rienzi, Laura
    [J]. HUMAN REPRODUCTION UPDATE, 2017, 23 (06) : 706 - 722
  • [4] Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies
    Capalbo, Antonio
    Treff, Nathan R.
    Cimadomo, Danilo
    Tao, Xin
    Upham, Kathleen
    Ubaldi, Filippo Maria
    Rienzi, Laura
    Scott, Richard T., Jr.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (07) : 901 - 906
  • [5] ESHRE PGT Consortium good practice recommendations for the organisation of PGT
    Carvalho, Filipa
    Coonen, Edith
    Goossens, Veerle
    Kokkali, Georgia
    Rubio, Carmen
    Meijer-Hoogeveen, Madelon
    Moutou, Celine
    Vermeulen, Nathalie
    De Rycke, Martine
    [J]. HUMAN REPRODUCTION OPEN, 2020, 2020 (03)
  • [6] ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
    Carvalho, Filipa
    Moutou, Celine
    Dimitriadou, Eftychia
    Dreesen, Jos
    Gimenez, Carles
    Goossens, Veerle
    Kakourou, Georgia
    Vermeulen, Nathalie
    Zuccarello, Daniela
    De Rycke, Martine
    [J]. HUMAN REPRODUCTION OPEN, 2020, 2020 (03)
  • [7] Preimplantation Genetic Testing for Monogenic Disorders
    De Rycke, Martine
    Berckmoes, Veerle
    [J]. GENES, 2020, 11 (08) : 1 - 15
  • [8] Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers
    De Vos, A.
    Staessen, C.
    De Rycke, M.
    Verpoest, W.
    Haentjens, P.
    Devroey, P.
    Liebaers, I.
    Van de Velde, H.
    [J]. HUMAN REPRODUCTION, 2009, 24 (12) : 2988 - 2996
  • [9] Is the polar body approach best for pre-implantation genetic screening?
    Delhanty, Joy D. A.
    [J]. PLACENTA, 2011, 32 : S268 - S270
  • [10] A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach
    Doroftei, Bogdan
    Ilie, Ovidiu-Dumitru
    Anton, Nicoleta
    Armeanu, Theodora
    Ilea, Ciprian
    [J]. DIAGNOSTICS, 2022, 12 (08)
12345