Assisted reproductive technologies at the nexus of fertility treatment and disease prevention

被引：19

作者：

Herbert, Mary ^{[1
,2
,3
]}

Choudhary, Meenakshi ^{[2
]}

Zander-Fox, Deidre ^{[4
,5
]}

机构：

[1] Newcastle Univ, Biosci Inst, Newcastle Upon Tyne NE1 4EP, England

[2] Newcastle Tyne Hosp NHS Fdn Trust, Newcastle Fertil Ctr, Newcastle Upon Tyne NE1 4EP, England

[3] Monash Univ, Monash Biomed Discovery Inst, Dept Anat & Dev Biol, Dev & Stem Cells Program, Melbourne, VIC 3800, Australia

[4] Monash IVF, Melbourne, VIC 3800, Australia

[5] Monash Univ, Sch Clin Sci, Dept Obstet & Gynaecol, Melbourne, VIC 3800, Australia

来源：

SCIENCE | 2023年 / 380卷 / 6641期

基金：

英国惠康基金;

关键词：

PREIMPLANTATION GENETIC DIAGNOSIS; MITOCHONDRIAL-DNA DISORDERS; TRANSMISSION; MODELS; PGD;

D O I：

10.1126/science.adh0073

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Assisted reproductive technology (ART) refers to processing gametes in vitro and usually involves in vitro fertilization. Originally developed for the treatment of infertility, culture of human embryos in vitro also provides an opportunity to screen embryos for inherited genetic disorders of the nuclear and mitochondrial genomes. Progress in identifying causative genetic variants has massively increased the scope of preimplantation genetic testing in preventing genetic disorders. However, because ART procedures are not without risk of adverse maternal and child outcomes, careful consideration of the balance of risks and benefits is warranted. Further research on early human development will help to minimize risks while maximizing the benefits of ART.

引用

页码：164 / 167

页数：4

共 42 条

[21]

Lee I. T., 2023, FERTIL STERIL

[22] Polygenic risk scores: from research tools to clinical instruments [J].

Lewis, Cathryn M. ;

Vassos, Evangelos .

GENOME MEDICINE, 2020, 12 (01)

[23] The risks of birth defects and childhood cancer with conception by assisted reproductive technology [J].

Luke, Barbara ;

Brown, Morton B. ;

Wantman, Ethan ;

Schymura, Maria J. ;

Browne, Marilyn L. ;

Fisher, Sarah C. ;

Forestieri, Nina E. ;

Rao, Chandrika ;

Nichols, Hazel B. ;

Yazdy, Mahsa M. ;

Gershman, Susan T. ;

Sacha, Caitlin R. ;

Williams, Melanie ;

Ethen, Mary K. ;

Canfield, Mark A. ;

Doody, Kevin J. ;

Eisenberg, Michael L. ;

Baker, Valerie L. ;

Williams, Carrie ;

Sutcliffe, Alastair G. ;

Richard, Melissa A. ;

Lupo, Philip J. .

HUMAN REPRODUCTION, 2022, 37 (11) :2672-2689

[24] Germline transmission of donor, maternal and paternal mtDNA in primates [J].

Ma, Hong ;

Van Dyken, Crystal ;

Darby, Hayley ;

Mikhalchenko, Aleksei ;

Marti-Gutierrez, Nuria ;

Koski, Amy ;

Liang, Dan ;

Li, Ying ;

Tippner-Hedges, Rebecca ;

Kang, Eunju ;

Lee, Yeonmi ;

Sidener, Heather ;

Ramsey, Cathy ;

Hodge, Travis ;

Amato, Paula ;

Mitalipov, Shoukhrat .

HUMAN REPRODUCTION, 2021, 36 (02) :493-505

[25] Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases [J].

Mitalipov, Shoukhrat ;

Amato, Paula ;

Parry, Samuel ;

Falk, Marni J. .

CELL REPORTS, 2014, 7 (04) :935-937

[26] Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial [J].

Munne, Santiago ;

Kaplan, Brian ;

Frattarelli, John L. ;

Child, Tim ;

Nakhuda, Gary ;

Shamma, F. Nicholas ;

Silverberg, Kaylen ;

Kalista, Tasha ;

Handyside, Alan H. ;

Katz-Jaffe, Mandy ;

Wells, Dagan ;

Gordon, Tony ;

Stock-Myer, Sharyn ;

Willman, Susan ;

Acacio, Brian ;

Lavery, Stuart ;

Carby, Anna ;

Boostanfar, Robert ;

Forman, Robert ;

Sedler, Mark ;

Jackson, Anthea ;

Jordan, Keith ;

Schoolcraft, William ;

Katz-Jaffe, Mandy ;

McReynolds, Susanna ;

Schnell, Vicki ;

Loy, Randall ;

Chantilis, Samuel ;

Ku, Lowell ;

Kaplan, Brian ;

Frattarelli, John ;

Morales, Arlene ;

Craig, H. Randall ;

Perloe, Mark ;

Witz, Craig ;

Wang, Wei-Hua ;

Wilcox, John ;

Norian, John ;

Thompson, Stephanie Marshall ;

Chen, Serena ;

Garrisi, John ;

Walmsley, Renee ;

Mendola, Robert ;

Shamma, F. Nicholas ;

Pang, Samuel ;

Sakkas, Denny ;

Rooney, Kristin ;

Sneeringer, Rita ;

Glassner, Michael ;

Stock-Myer, Sharyn .

FERTILITY AND STERILITY, 2019, 112 (06) :1071-+

[27] Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights [J].

Munne, Santiago ;

Spinella, Francesca ;

Grifo, Jamie ;

Zhang, John ;

Beltran, Monica Parriego ;

Fragouli, Elpida ;

Fiorentino, Francesco .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (02)

[28] Multiyear outcomes using sibling oocytes demonstrates safety and efficacy of a simplified culture system consistent with use in a low-cost IVF setting [J].

Ombelet, Willem ;

Van Blerkom, Jonathan ;

Nargund, Geeta ;

Van der Auwera, Ingrid ;

Janssen, Mia ;

Dhont, Nathalie ;

Bosmans, Eugene ;

Boshoff, Gerhard ;

Vertessen, Viktor-Jan ;

Campo, Rudi .

REPRODUCTIVE BIOMEDICINE ONLINE, 2022, 45 (03) :481-490

[29] Linear mitochondrial DNA is rapidly degraded by components of the replication machinery [J].

Peeva, Viktoriya ;

Blei, Daniel ;

Trombly, Genevieve ;

Corsi, Sarah ;

Szukszto, Maciej J. ;

Rebelo-Guiomar, Pedro ;

Gammage, Payam A. ;

Kudin, Alexei P. ;

Becker, Christian ;

Altmueller, Janine ;

Minczuk, Michal ;

Zsurka, Gabor ;

Kunz, Wolfram S. .

NATURE COMMUNICATIONS, 2018, 9

[30] Concise Reviews: Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease [J].

Richardson, Jessica ;

Irving, Laura ;

Hyslop, Louise A. ;

Choudhary, Meenakshi ;

Murdoch, Alison ;

Turnbull, Douglass M. ;

Herbert, Mary .

STEM CELLS, 2015, 33 (03) :639-645

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