Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion

被引：14
|
作者：
Penzias, Alan [1 ]
Anderson, Jacob [1 ]
Bendikson, Kristin [1 ]
Gracia, Clarisa [1 ]
Falcone, Tommaso [1 ]
Hansen, Karl [1 ]
Hill, Micah [1 ]
Jin-dal, Sangita [1 ]
Kalra, Suleena [1 ]
Jain, Tarun [1 ]
Thomas, Michael [1 ]
Reindollar, Richard [1 ]
Robins, Jared [1 ]
Shannon, Chevis N. [1 ]
Steiner, Anne [1 ]
Tanrikut, Cigdem [1 ]
Yauger, Belinda [1 ]
Awwad, Rawan [1 ]
Besser, Andria [1 ]
机构：
[1] Amer Soc Reprod Med, 1209 Montgomery Highway, Birmingham, AL 35216 USA
来源：
FERTILITY AND STERILITY | 2023年 / 120卷 / 01期
关键词：
Preimplantation genetic testing; embryo; assisted reproduction; single-gene disorders; IVF; HUNTINGTONS-DISEASE; RECURRENCE RISK; DIAGNOSIS; PGD; DISORDERS; MOSAICISM; PCR;
D O I：
10.1016/j.fertnstert.2023.03.003
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
This statement is offered to update and expand on the prior American Society for Reproductive Medicine preimplantation genetic testing (PGT) opinion, elucidate the current clinical and technical complexities specific to PGT for monogenic conditions, assist pro-viders in supporting patient understanding of and access to this technology, and offer considerations for the development of future clinical and laboratory guidelines on PGT for monogenic conditions. (Fertil Steril & REG; 2023;120:61-71. & COPY;2023 by American Society for Reproductive Medicine.)
引用
收藏
页码：61 / 71
页数：11
相关论文
共 50 条
  • [41] Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M)
    Yang, Lin
    Xu, Yan
    Xia, Jun
    Yan, Huijuan
    Ding, Chenhui
    Shi, Qianyu
    Wu, Yujing
    Liu, Ping
    Pan, Jiafu
    Zeng, Yanhong
    Zhang, Yanyan
    Chen, Fang
    Jiang, Hui
    Xu, Yanwen
    Li, Wei
    Zhou, Canquan
    Gao, Ya
    FRONTIERS IN GENETICS, 2022, 13
  • [42] Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from US laboratory genetic counselors
    Porto, Anthony
    Caffrey, Rikki Gaber
    Crowley-Matoka, Megan
    Spencer, Sara
    Li, Mindy
    Propst, Lauren
    JOURNAL OF GENETIC COUNSELING, 2022, 31 (01) : 261 - 268
  • [43] Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
    Toft, Christian Liebst Frisk
    Ingerslev, Hans Jakob
    Kesmodel, Ulrik Schioler
    Hatt, Lotte
    Singh, Ripudaman
    Ravn, Katarina
    Nicolaisen, Bolette Hestbek
    Christensen, Inga Baasch
    Kolvraa, Mathias
    Jeppesen, Line Dahl
    Schelde, Palle
    Vogel, Ida
    Uldbjerg, Niels
    Farlie, Richard
    Sommer, Steffen
    Ostergard, Marianne Louise Vang
    Jensen, Ann Nygaard
    Mogensen, Helle
    Kjartansdottir, Kristin Ros
    Degn, Birte
    Okkels, Henrik
    Ernst, Anja
    Pedersen, Inge Sokilde
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2021, 38 (08) : 1959 - 1970
  • [44] Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing
    Volozonoka, Ludmila
    Miskova, Anna
    Gailite, Linda
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (09)
  • [45] Importance of genetic counseling in preimplantation genetic testing for aneuploidies (PGT-A)
    Sessarego Tabja, Silvana
    REVISTA PERUANA DE GINECOLOGIA Y OBSTETRICIA, 2019, 65 (02): : 183 - 188
  • [46] Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis
    Liu, Xinyu
    Zhang, Qian
    Cao, Kexin
    Li, Jie
    Gao, Yuan
    Xu, Peiwen
    Niu, Yuping
    Zhou, Wei
    Ni, Tianxiang
    Sun, Shuzhen
    Yan, Junhao
    CLINICAL KIDNEY JOURNAL, 2025, 18 (01)
  • [47] Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing
    Weihua Zhao
    Yanyan Song
    Chuanfeng Huang
    Shan Xu
    Qi Luo
    Runsi Yao
    Nan Sun
    Bo Liang
    Jia Fei
    Fangfang Gao
    Jie Huang
    Shoufang Qu
    BMC Medical Genomics, 17
  • [48] Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing
    Zhao, Weihua
    Song, Yanyan
    Huang, Chuanfeng
    Xu, Shan
    Luo, Qi
    Yao, Runsi
    Sun, Nan
    Liang, Bo
    Fei, Jia
    Gao, Fangfang
    Huang, Jie
    Qu, Shoufang
    BMC MEDICAL GENOMICS, 2024, 17 (01)
  • [49] State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies
    Thompson, Whitney S.
    Babayev, Samir N.
    McGowan, Michelle L.
    Kattah, Andrea G.
    Wick, Myra J.
    Bendel-Stenzel, Ellen M.
    Chebib, Fouad T.
    Harris, Peter C.
    Dahl, Neera K.
    Torres, Vicente E.
    Hanna, Christian
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (02): : 235 - 248
  • [50] The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping
    Chen, Chuanju
    Shi, Hao
    Niu, Wenbin
    Bao, Xiao
    Yang, Jingya
    Jin, Haixia
    Song, Wenyan
    Sun, Yingpu
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2023, 40 (12) : 2933 - 2943
12345