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

被引：18

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

[1]

[Anonymous], MACK MISS

[2] International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases [J].

Boycott, Kym M. ;

Rath, Ana ;

Chong, Jessica X. ;

Hartley, Taila ;

Alkuraya, Fowzan S. ;

Baynam, Gareth ;

Brookes, Anthony J. ;

Brudno, Michael ;

Carracedo, Angel ;

den Dunnen, Johan T. ;

Dyke, Stephanie O. M. ;

Estivill, Xavier ;

Goldblatt, Jack ;

Gonthier, Catherine ;

Groft, Stephen C. ;

Gut, Ivo ;

Hamosh, Ada ;

Hieter, Philip ;

Hoehn, Sophie ;

Hurles, Matthew E. ;

Kaufmann, Petra ;

Knoppers, Bartha M. ;

Krischer, Jeffrey P. ;

Macek, Milan, Jr. ;

Matthijs, Gert ;

Olry, Annie ;

Parker, Samantha ;

Paschall, Justin ;

Philippakis, Anthony A. ;

Rehm, Heidi L. ;

Robinson, Peter N. ;

Sham, Pak-Chung ;

Stefanov, Rumen ;

Taruscio, Domenica ;

Unni, Divya ;

Vanstone, Megan R. ;

Zhang, Feng ;

Brunner, Han ;

Bamshad, Michael J. ;

Lochmueller, Hanns .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (05) :695-705

[3] Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial [J].

Capalbo, Antonio ;

Poli, Maurizio ;

Rienzi, Laura ;

Girardi, Laura ;

Patassini, Cristina ;

Fabiani, Marco ;

Cimadomo, Danilo ;

Benini, Francesca ;

Farcomeni, Alessio ;

Cuzzi, Juliana ;

Rubio, Carmen ;

Albani, Elena ;

Sacchi, Laura ;

Vaiarelli, Alberto ;

Figliuzzi, Matteo ;

Findikli, Necati ;

Coban, Onder ;

Boynukalin, Fazilet K. ;

Vogel, Ivan ;

Hoffmann, Eva ;

Livi, Claudia ;

Levi-Setti, Paolo E. ;

Ubaldi, Filippo M. ;

Simon, Carlos .

AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (12) :2238-2247

[4] Incomplete penetrance in mitochondrial optic neuropathies [J].

Caporali, Leonardo ;

Maresca, Alessandra ;

Capristo, Mariantonietta ;

Del Dotto, Valentina ;

Tagliavini, Francesca ;

Valentino, Maria Lucia ;

La Morgia, Chiara ;

Carelli, Valerio .

MITOCHONDRION, 2017, 36 :130-137

[5] The dawn of the future: 30 years from the first biopsy of a human embryo. The detailed history of an ongoing revolution [J].

Cimadomo, Danilo ;

Rienzi, Laura ;

Capalbo, Antonio ;

Rubio, Carmen ;

Innocenti, Federica ;

Maria Garcia-Pascual, Carmen ;

Ubaldi, Filippo Maria ;

Handyside, Alan .

HUMAN REPRODUCTION UPDATE, 2020, 26 (04) :453-473

[6] Human embryo research, stem cell-derived embryo models and in vitro gametogenesis: Considerations leading to the revised ISSCR guidelines [J].

Clark, Amander T. ;

Brivanlou, Ali ;

Fu, Jianping ;

Kato, Kazuto ;

Mathews, Debra ;

Niakan, Kathy K. ;

Rivron, Nicolas ;

Saitou, Mitinori ;

Surani, Azim ;

Tang, Fuchou ;

Rossant, Janet .

STEM CELL REPORTS, 2021, 16 (06) :1416-1424

[7]

Costa-Borges N, 2023, FERTIL STERIL

[8] Maternal spindle transfer overcomes embryo developmental arrest caused by ooplasmic defects in mice [J].

Costa-Borges, Nuno ;

Spath, Katharina ;

Miguel-Escalade, Irene ;

Mestres, Enric ;

Balmaseda, Rosa ;

Serafin, Anna ;

Garcia-Jimenez, Maria ;

Vanrell, Ivette ;

Gonzalez, JesCis ;

Rink, Klaus ;

Wells, Dagan ;

Calderon, Gloria .

ELIFE, 2020, 9

[9]

De Rycke Martine, 2020, Reproduction, V160, pA45, DOI 10.1530/REP-20-0082

[10] A demographic projection of the contribution of assisted reproductive technologies to world population growth [J].

Faddy, Malcolm J. ;

Gosden, Matthew D. ;

Gosden, Roger G. .

REPRODUCTIVE BIOMEDICINE ONLINE, 2018, 36 (04) :455-458

← 1 2 3 4 5 →