Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡
Status PubMed-not-MEDLINE Jazyk angličtina Země Velká Británie, Anglie Médium electronic-ecollection
Typ dokumentu časopisecké články
PubMed
31486804
PubMed Central
PMC6276693
DOI
10.1093/hropen/hox015
PII: hox015
Knihovny.cz E-zdroje
- Klíčová slova
- assisted reproductive technology, epigenetics, expanded carrier screening, female infertility, gamete donor anonymity, germline genome editing, male infertility, mitochondrial replacement therapy, non-invasive prenatal testing, preimplantation genetic testing,
- Publikační typ
- časopisecké články MeSH
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively-parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.
Althea Science Inc 3 Regent St 301 Livingston NJ 07039 USA
Bioethics Institute Ghent Department of Philosophy and Moral Science Ghent University Belgium
Centre for Medical Genetics UZ Brussel Laarbeeklaan 101 B 1090 Brussels Belgium
Department of Human Genetics KU Leuven O and N 1 Herestraat 49 Box 602 B 3000 Leuven Belgium
Institute for Women's Health University College London 86 96 Chenies Mews London WC1E 6HX UK
Laboratory of Genetics Helsinki University Hospital PO Box 720 FI 00029 Helsinki Finland
Reproductive Medicine Sahlgrenska University Hospital Blå Stråket 6 413 45 Göteborg Sweden
Reproductive Medicine Service of Dexeus Woman Health Gran Via Carles 3 71 75 08028 Barcelona Spain
S 1 S Me R Reproductive Medicine Unit Via Mazzini 12 40138 Bologna Italy
Synlab Genetics chemin d'Entre Bois 21 CH 1018 Lausanne Switzerland
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Abbott A. Genome test slammed for assessing ‘racial purity’. Nature 2012;486:167–167. PubMed
Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X. NGS-based assay for the identification of individuals carrying recessive genetic mutations in reproductive medicine. Hum Mutat 2016;37:516–523. PubMed
Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 2016;17:241. PubMed PMC
Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol 2015;16:240. PubMed PMC
Albertini DF, Gleicher N. A detour in the quest for oogonial stem cells: methods matter. Nat Med 2015;21:1126–1127. PubMed
Amant F, Verheecke M, Wlodarska I, Dehaspe L, Brady P, Brison N, Van Den Bogaert K, Dierickx D, Vandecaveye V, Tousseyn T et al. . Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. JAMA Oncol 2015;1:814–819. PubMed
Amiri-Yekta A, Coutton C, Kherraf Z-E, Karaouzène T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH et al. . Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Hum Reprod 2016;31:2872–2880. PubMed
Ankolkar M, Balasinor NH. Endocrine control of epigenetic mechanisms in male reproduction. Horm Mol Biol Clin Investig 2016;25:65–70. PubMed
Aston KI. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology 2014;2:315–321. PubMed
Bachelot A, Grouthier V, Courtillot C, Dulon J, Touraine P. Management of endocrine disease: congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. Eur J Endocrinol 2017;176:R167–R181. PubMed
Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS, Green RC. Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genet Med 2016;18:924–932. PubMed PMC
Barritt JA, Willadsen S, Brenner C, Cohen J. Cytoplasmic transfer in assisted reproduction. Hum Reprod Update 2001;7:428–435. PubMed
Ben Khelifa M, Coutton C, Blum MGB, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J et al. . Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. Hum Reprod 2012;27:3337–3346. PubMed
Benn P. Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y. Clin Genet 2016;90:477–485. PubMed
Bianchi DW, Chudova D, Sehnert AJ, Bhatt S, Murray K, Prosen TL, Garber JE, Wilkins-Haug L, Vora NL, Warsof S et al. . Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 2015;314:162–169. PubMed
Bieniek JM, Lo KC. Recent advances in understanding & managing male infertility. F1000Res 2016;5:2756. PubMed PMC
Blake L, Jadva V, Golombok S. Parent psychological adjustment, donor conception and disclosure: a follow-up over 10 years. Hum Reprod 2014;29:2487–2496. PubMed PMC
Boeldt DL, Schork NJ, Topol EJ, Bloss CS. Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing. Clin Genet 2015;87:225–232. PubMed PMC
Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 2011;26:972–977. PubMed PMC
Borry P, Rusu O, Dondorp W, De Wert G, Knoppers BM, Howard HC. Anonymity 2.0: direct-to-consumer genetic testing and donor conception. Fertil Steril 2014;101:630–632. PubMed
Bouilly J, Beau I, Barraud S, Bernard V, Azibi K, Fagart J, Fèvre A, Todeschini AL, Veitia RA, Beldjord C et al. . Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency. J Clin Endocrinol Metab 2016;101:4541–4550. PubMed
Bredenoord AL, Hyun I. The road to mitochondrial gene transfer: follow the middle lane. Mol Ther 2015;23:975–976. PubMed PMC
Brewer J, Demers L, Musci T. Survey of US obstetrician opinions regarding NIPT use in general practice: implementation and barriers. J Matern Fetal Neonatal Med 2017;30:1793–1796. PubMed
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN et al. . An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014;15:R53. PubMed PMC
Bunkar N, Pathak N, Lohiya NK, Mishra PK. Epigenetics: a key paradigm in reproductive health. Clin Exp Reprod Med 2016;43:59. PubMed PMC
Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, Gallego-Merlo J, Lorda-Sanchez I, Rodríguez-Ramirez L, Linares C, Hernandez C, de Alba MR. Non-invasive prenatal diagnosis in the management of preimplantation genetic diagnosis pregnancies. J Clin Med 2014;3:913–922. PubMed PMC
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I et al. . Mutant cohesin in premature ovarian failure. N Engl J Med 2014;370:943–949. PubMed PMC
Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet 2014;95:345–359. PubMed PMC
Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 2015;31:382–392. PubMed PMC
Carrell DT, Aston KI, Oliva R, Emery BR, De Jonge CJ. The ‘omics’ of human male infertility: integrating big data in a systems biology approach. Cell Tissue Res 2016;363:295–312. PubMed
Castellani C, Picci L, Tridello G, Casati E, Tamanini A, Bartoloni L, Scarpa M, Assael BM, Veneto CF Lab Network . Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med 2016;18:145–151. PubMed
Chitty LS, Bianchi DW. Next generation sequencing and the next generation: how genomics is revolutionizing reproduction. Prenat Diagn 2015;35:929–930. PubMed
Clarke HJ, Vieux K-F. Epigenetic inheritance through the female germ-line: The known, the unknown, and the possible. Semin Cell Dev Biol 2015;43:106–116. PubMed
Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U et al. . Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2014;22:160–170. PubMed PMC
Coates A, Kung A, Mounts E, Hesla J, Bankowski B, Barbieri E, Ata B, Cohen J, Munné S. Optimal euploid embryo transfer strategy, fresh versus frozen, after preimplantation genetic screening with next generation sequencing: a randomized controlled trial. Fertil Steril 2017;107:723–730.e3. PubMed
Committee Opinion No. 690: Carrier screening in the age of genomic medicine American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e35–e40. PubMed
Cordts EB, Santos MC, Bianco B, Barbosa CP, Christofolini DM. Are FSHR polymorphisms risk factors to premature ovarian insufficiency? Gynecol Endocrinol 2015;31:663–666. PubMed
D’Aurora M, Ferlin A, Di Nicola M, Garolla A, De Toni L, Franchi S, Palka G, Foresta C, Stuppia L, Gatta V. Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis. BMC Genomics 2015;16:156. PubMed PMC
Dahdouh EM, Balayla J, García-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril 2015;104:1503–1512. PubMed
DCR Donor Conceived Registry. 2017; Available from: www.donorconceiveregistry.org.uk.
de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab 2014;99:E2129–E2132. PubMed
de Waal E, Mak W, Calhoun S, Stein P, Ord T, Krapp C, Coutifaris C, Schultz RM, Bartolomei MS. In vitro culture increases the frequency of stochastic epigenetic errors at imprinted genes in placental tissues from mouse concepti produced through assisted reproductive technologies. Biol Reprod 2014;90:22. PubMed PMC
de Wert G, Dondorp W, Bianchi DW. Fetal therapy for Down syndrome: an ethical exploration. Prenat Diagn 2017;37:222–228. PubMed PMC
Deans Z, Clarke AJ, Newson AJ. For your interest? The ethical acceptability of using non-invasive prenatal testing to test ‘purely for information’. Bioethics 2015;29:19–25. PubMed
Demain LAM, Conway GS, Newman WG. Genetics of mitochondrial dysfunction and infertility. Clin Genet 2017a;91:199–207. PubMed
Demain LAM, Urquhart JE, O'sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA et al. . Expanding the genotypic spectrum of Perrault syndrome. Clin Genet 2017b;91:302–312. PubMed
Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M et al. . MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency. J Clin Endocrinol Metab 2017;102:576–582. PubMed PMC
De Wert G, Dondorp W, Pennings G, Shenfield F, Devroey P, Tarlatzis B, Barri P, Diedrich K. ESHRE Task Force on Ethics and Law. Intrafamilial medically assisted reproduction. Hum Reprod 2011;26:504–509. PubMed
Diez-Juan A, Rubio C, Marin C, Martinez S, Al-Asmar N, Riboldi M, Díaz-Gimeno P, Valbuena D, Simón C. Mitochondrial DNA content as a viability score in human euploid embryos: less is better. Fertil Steril 2015;104:534–41.e1. PubMed
Dondorp W, De Wert G, Pennings G, Shenfield F, Devroey P, Tarlatzis B, Barri P, Diedrich K, Eichenlaub-Ritter U, Tüttelmann F et al. . ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues. Hum Reprod 2014;29:1353–1359. PubMed
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A et al. . Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015;23:1592–1592. PubMed PMC
Donley G, Hull SC, Berkman BE. Prenatal whole genome sequencing: just because we can, should we? Hastings Cent Rep 2012;42:28–40. PubMed PMC
Drury S, Hill M, Chitty LS. Cell-free fetal DNA testing for prenatal diagnosis. Adv Clin Chem 2016;76:1–35. PubMed
DSR Donor Sibling Registry. 2017; Available from: www.donorsiblingregistry.com.
Dubov T, Toledano-Alhadef H, Bokstein F, Constantini S, Ben-Shachar S. The effect of parental age on the presence of de novo mutations—Lessons from neurofibromatosis type I. Mol Genet genomic Med 2016;4:480–486. PubMed PMC
Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, Schneider A, Stoll K, Wapner R, Watson MS. Expanded carrier screening in reproductive medicine—points to consider. Obstet Gynecol 2015;125:653–662. PubMed
El-Hazmi MAF. Ethics of genetic counseling—Basic concepts and relevance to Islamic communities. Ann Saudi Med 2004;24:84–92. PubMed PMC
ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S. A new mutation identified in SPATA16 in two globozoospermic patients. J Assist Reprod Genet 2016;33:815–820. PubMed PMC
Erler P, Sweeney A, Monaghan JR. Regulation of injury-induced ovarian regeneration by activation of oogonial stem cells. Stem Cells 2017;35:236–247. PubMed
ESHG Staffing of Medical Genetics Centres across Europe. 2013; Available from: https://www.eshg.org/index.php?id=111.
ESHG Euroopean Society for Human Genetics. 2017; Available from: https://www.eshg.org.
ESHRE European Society for Human Reproduction and Embryology. 2017; Available from: https://www.eshre.eu.
European IVF-Monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE), Calhaz-Jorge C, de Geyter C, Kupka MS, de Mouzon J, Erb K, Mocanu E, Motrenko T, Scaravelli G, Wyns C, Goossens V et al. . Assisted reproductive technology in Europe, 2012: results generated from European registers by ESHRE. Hum Reprod 2016;31:1638–1652. PubMed
Evitt NH, Mascharak S, Altman RB. Human germline CRISPR-Cas modification: toward a regulatory framework. Am J Bioeth 2015;15:25–29. PubMed PMC
Feil R, Fraga MF. Epigenetics and the environment: emerging patterns and implications. Nat Rev Genet 2012;13:97–109. PubMed
Feng R, Yan Z, Li B, Yu M, Sang Q, Tian G, Xu Y, Chen B, Qu R, Sun Z et al. . Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. J Med Genet 2016;53:662–671. PubMed PMC
Fleming TP, Kwong WY, Porter R, Ursell E, Fesenko I, Wilkins A, Miller DJ, Watkins AJ, Eckert JJ. The embryo and its future1. Biol Reprod 2004;71:1046–1054. PubMed
Fogleman S, Santana C, Bishop C, Miller A, Capco DG. CRISPR/Cas9 and mitochondrial gene replacement therapy: promising techniques and ethical considerations. Am J Stem Cells 2016;5:39–52. PubMed PMC
Fragouli E, Wells D. Aneuploidy in the human blastocyst. Cytogenet Genome Res 2011;133:149–159. PubMed
Fragouli E, Wells D. Mitochondrial DNA assessment to determine oocyte and embryo viability. Semin Reprod Med 2015;33:401–409. PubMed
Franasiak JM, Scott RT. Reproductive tract microbiome in assisted reproductive technologies. Fertil Steril 2015;104:1364–1371. PubMed
FTDNA Family Tree DNA. 2004; 2003 Available from: https://www.familytreedna.com/.
Galluzzi L, Palini S, De Stefani S, Andreoni F, Primiterra M, Diotallevi A, Bulletti C, Magnani M. Extracellular embryo genomic DNA and its potential for genotyping applications. Future Sci OA 2015;1:FSO62. PubMed PMC
Geraedts J, Sermon K. Preimplantation genetic screening 2.0: the theory. Mol Hum Reprod 2016;22:839–844. PubMed PMC
Ghédir H, Ibala-Romdhane S, Okutman O, Viot G, Saad A, Viville S. Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. Mol Hum Reprod 2016;22:35–45. PubMed
Ghosh J, Mainigi M, Coutifaris C, Sapienza C. Outlier DNA methylation levels as an indicator of environmental exposure and risk of undesirable birth outcome. Hum Mol Genet 2016;25:123–129. PubMed PMC
Giabicani E, Netchine I, Brioude F. New clinical and molecular insights into Silver–Russell syndrome. Curr Opin Pediatr 2016;28:529–535. PubMed
Gianaroli L, Magli MC, Pomante A, Crivello AM, Cafueri G, Valerio M, Ferraretti AP. Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study. Fertil Steril 2014;102:1692–9.e6. PubMed
Gifford WD, Pfaff SL, Macfarlan TS. Transposable elements as genetic regulatory substrates in early development. Trends Cell Biol 2013;23:218–226. PubMed PMC
Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH. Clinical implementation of routine screening for fetal trisomies in the UKNHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 2016;47:45–52. PubMed
Gil M, Accurti V, Santacruz B, Plana M, Nicolaides K. Analysis of cell-free dna in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017. http://www.ncbi.nlm.nih.gov/pubmed/28397325. PubMed
Girard SL, Bourassa CV, Lemieux Perreault L-P, Legault M-A, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G et al. . Paternal age explains a major portion of de novo germline mutation rate variability in healthy individuals. PLoS One 2016;11:e0164212. PubMed PMC
Gleicher N, Kushnir VA, Barad DH. Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review. Reprod Biol Endocrinol 2014;12:22. PubMed PMC
Gleicher N, Orvieto R. Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review. J Ovarian Res 2017;10:21. PubMed PMC
Gómez-Tatay L, Hernández-Andreu J, Aznar J. Mitochondrial modification techniques and ethical issues. J Clin Med 2017;6:25. PubMed PMC
Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 2015;373:2089–2090. PubMed
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2016;18:1056–1065. PubMed
Guo Y-W, Chiu C-Y, Liu C-L, Jap T-S, Lin L-Y. Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. Int J Clin Exp Pathol 2015;8:1057–1062. PubMed PMC
Gyselaers W, Hulstaert F, Neyt M. Contingent non-invasive prenatal testing: an opportunity to improve non-genetic aspects of fetal aneuploidy screening. Prenat Diagn 2015;35:1347–1352. PubMed
Hammond ER, McGillivray BC, Wicker SM, Peek JC, Shelling AN, Stone P, Chamley LW, Cree LM. Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified. Fertil Steril 2017;107:220–228.e5. PubMed
Hammoud SS, Nix DA, Zhang H, Purwar J, Carrell DT, Cairns BR. Distinctive chromatin in human sperm packages genes for embryo development. Nature 2009;460:473–478. PubMed PMC
Hammoud SS, Cairns BR, Carrell DT. Analysis of gene-specific and genome-wide sperm DNA methylation. Methods Mol Biol 2013;927:451–458. PubMed
Hancks DC, Kazazian HH. Roles for retrotransposon insertions in human disease. Mob DNA 2016;7:9. PubMed PMC
Hanson B, Johnstone E, Dorais J, Silver B, Peterson CM, Hotaling J. Female infertility, infertility-associated diagnoses, and comorbidities: a review. J Assist Reprod Genet 2017;34:167–177. PubMed PMC
Harper JC, SenGupta S, Vesela K, Thornhill A, Dequeker E, Coonen E, Morris MA. Accreditation of the PGD laboratory. Hum Reprod 2010;25:1051–1065. PubMed
Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I et al. . Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology. Eur J Hum Genet 2013;21:S1–S21. PubMed PMC
Harper JC, Kennett D, Reisel D. The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business. Hum Reprod 2016;31:1135–1140. PubMed
Harper J, Jackson E, Sermon K, Aitken RJ, Harbottle S, Mocanu E, Hardarson T, Mathur R, Viville S, Vail A et al. . Adjuncts in the IVF laboratory: where is the evidence for ‘add-on’ interventions? Hum Reprod 2017;32:485–491. PubMed
Hellebrekers DMEI, Wolfe R, Hendrickx ATM, de Coo IFM, de Die CE, Geraedts JPM, Chinnery PF, Smeets HJM. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update 2012;18:341–349. PubMed
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H et al. . Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24:e1–e12. PubMed PMC
Hens K, Dondorp W, Handyside AH, Harper J, Newson AJ, Pennings G, Rehmann-Sutter C, de Wert G. Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges. Hum Reprod Update 2013;19:366–375. PubMed
HGVS Human Genome Variation Society. 2017; Available from: http://varnomen.hgvs.org.
Hildt E. Human germline interventions-think first. Front Genet 2016;7:81. PubMed PMC
Hill M, Wright D, Daley R, Lewis C, McKay F, Mason S, Lench N, Howarth A, Boustred C, Lo K et al. . Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth 2014;14:229. PubMed PMC
Holtkamp KCA, Mathijssen IB, Lakeman P, van Maarle MC, Dondorp WJ, Henneman L, Cornel MC. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. Eur J Public Health 2017;27:372–377. PubMed PMC
Hotaling J, Carrell DT. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology 2014;2:339–350. PubMed
Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P, European Society of Human Genetics, P3G International Paediatric Platform, Human Genome Organisation; and the PHG Foundation . Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet 2015;23:1593–1600. PubMed PMC
Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NME, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q et al. . Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature 2016;534:383–386. PubMed PMC
Ishii T. Reproductive medicine involving genome editing: clinical uncertainties and embryological needs. Reprod Biomed Online 2017;34:27–31. PubMed
ISPD International Society of Prenatal Diagnosis - ‘Position statement from the chromosome abnormality screening committee on behalf of the board of the International Society for Prenatal Diagnosis. 2015; Available from: https://www.ispdhome.org/docs/ISPD/Society Statements/PositionStatement_Current_8Apr2015.pdf. PubMed
Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P. Attitudes of european geneticists regarding expanded carrier screening. J Obstet Gynecol neonatal Nurs JOGNN 2017;46:63–71. PubMed
Kamps R, Brandão R, Bosch B, Paulussen A, Xanthoulea S, Blok M, Romano A. Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification. Int J Mol Sci 2017;18:308. PubMed PMC
Kang X, He W, Huang Y, Yu Q, Chen Y, Gao X, Sun X, Fan Y. Introducing precise genetic modifications into human 3PN embryos by CRISPR/Cas-mediated genome editing. J Assist Reprod Genet 2016;33:581–588. PubMed PMC
Kelsey G, Feil R. New insights into establishment and maintenance of DNA methylation imprints in mammals. Philos Trans R Soc B Biol Sci 2012;368:20110336–20110336. PubMed PMC
Krausz C, Escamilla AR, Chianese C. Genetics of male infertility: from research to clinic. Reproduction 2015;150:R159–R174. PubMed
Krausz C, Sandoval J, Sayols S, Chianese C, Giachini C, Heyn H, Esteller M. Novel insights into DNA methylation features in spermatozoa: stability and peculiarities. PLoS One 2012;7:e44479. PubMed PMC
Laissue P. Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol 2015;411:243–257. PubMed
Laven J. Genetics of Early and Normal Menopause. Semin Reprod Med 2015;33:377–383. PubMed
Liang P, Xu Y, Zhang X, Ding C, Huang R, Zhang Z, Lv J, Xie X, Chen Y, Li Y et al. . CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein Cell 2015;6:363–372. PubMed PMC
Liebaers I, El Inati E, Lissens W, Viville S. Genes and infertility In: Sermon K, Viville S (eds). Textb Hum Reprod Genet. Cambridge: Cambridge University Press, 2014, 113.
Liehr T, Lauten A, Schneider U, Schleussner EWA. Noninvasive prenatal testing—When is it advantageous to apply? Biomed Hub 2017;2:458432. PubMed PMC
Lin R, Feng G, Shu J, Zhang B, Zhou H, Gan X, Wang C, Chen H. Blastocoele re-expansion time in vitrified-warmed cycles is a strong predictor of clinical pregnancy outcome. J Obstet Gynaecol Res 2017;43:689–695. PubMed
Liu T, Huang J. DNA end resection: facts and mechanisms. Genomics Proteomics Bioinformatics 2016;14:126–130. PubMed PMC
Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–487. PubMed
Lunshof JE. Human germ line editing-roles and responsibilities. Protein Cell 2016;7:7–10. PubMed PMC
Ma H, Marti-Gutierrez N, Park SW, Wu J, Lee Y, Suzuki K, Koski A, Ji D, Hayama T, Ahmed R et al. . Correction of a pathogenic gene mutation in human embryos. Nature 2017;548:413–419. doi:10.1038/nature23305. PubMed
Magli MC, Pomante A, Cafueri G, Valerio M, Crippa A, Ferraretti AP, Gianaroli L. Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid? Fertil Steril 2016;105:676–683.e5. PubMed
Marianowski P, Dąbrowski FA, Zyguła A, Wielgoś M, Szymusik I. Do We Pay Enough Attention to Culture Conditions in Context of Perinatal Outcome after In Vitro Fertilization? Up-to-Date Literature Review. Biomed Res Int 2016;2016:3285179. PubMed PMC
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, FORGE Canada Consortium et al. . Whole-exome sequencing and targeted copy number analysis in primary ciliary Dyskinesia. G3 (Bethesda) 2015;5:1775–1781. PubMed PMC
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M et al. . Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016;24:1515–1515. PubMed PMC
Maxwell SM, Colls P, Hodes-Wertz B, McCulloh DH, McCaffrey C, Wells D, Munné S, Grifo JA. Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing. Fertil Steril 2016;106:1414–1419.e5. PubMed
McAllister JM, Legro RS, Modi BP, Strauss JF. Functional genomics of PCOS: from GWAS to molecular mechanisms. Trends Endocrinol Metab 2015;26:118–124. PubMed PMC
McGrath J, Solter D. Nuclear transplantation in the mouse embryo by microsurgery and cell fusion. Science 1983;220:1300–1302. PubMed
Mersy E, Smits LJM, van Winden LAAP, de Die-Smulders CEM, South-East Netherlands NIPT Consortium, Paulussen ADC, Macville MVE, Coumans ABC, Frints SGM. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update 2013;19:318–329. PubMed
MGI Mouse Genome Informatics. 2017; Available from: http://www.informatics.jax.org/.
Millbank J. Numerical limits in donor conception regimes: genetic links and ‘extended family’ in the era of identity disclosure. Med Law Rev 2014;22:325–356. PubMed
Minear MA, Lewis C, Pradhan S, Chandrasekharan S. Global perspectives on clinical adoption of NIPT. Prenat Diagn 2015;35:959–967. PubMed PMC
Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S et al. . Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. J Hum Genet 2011;56:296–299. PubMed
Morris S, Karlsen S, Chung N, Hill M, Chitty LS. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service. PLoS One 2014;9:e93559. PubMed PMC
Munné S, Cohen J. Advanced maternal age patients benefit from preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2017;107:1145–1146. PubMed
Murugappan G, Shahine LK, Perfetto CO, Hickok LR, Lathi RB. Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Hum Reprod 2016;31:1668–1674. PubMed
Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S, Coonen E, Dreesen JCFM, Stevens SJC, Paulussen ADC et al. . Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med 2014a;16:838–845. PubMed PMC
Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK. Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Reprod Biomed Online 2014b;29:600–605. PubMed
Nuffield Council on Bioethics Novel techniques for the prevention of mitochondrial DNA disorders: an ethical review. 2012; Available from: http://nuffieldbioethics.org/project/mitochondrial-dna-disorders.
Nuffield Council on Bioethics Non-invasive prenatal testing: ethical issues. 2017; Available from: http://nuffieldbioethics.org/wp-content/uploads/NIPT-ethical-issues-full-report.pdf.
Norton ME, Wapner RJ. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;373:2581–2582. PubMed
O’Brien BM, Halliday J, Lambert-Messerlian G, Eklund EE, Kloza E, Palomaki GE. Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA. Prenat Diagn 2017;37:303–305. PubMed
Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V et al. . Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 2015;24:5581–5588. PubMed
Ormond KE, Mortlock DP, Scholes DT, Bombard Y, Brody LC, Faucett WA, Garrison NA, Hercher L, Isasi R, Middleton A et al. . Human Germline Genome Editing. Am J Hum Genet 2017;101:167–176. doi: 10.1016/j.ajhg.2017.06.012. PubMed PMC
Otten ABC, Smeets HJM. Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing. Hum Reprod Update 2015;21:671–689. PubMed
Palacios-González C. Ethics of mitochondrial replacement techniques: a habermasian perspective. Bioethics 2017;31:27–36. PubMed PMC
Palomaki GE, Kloza EM, O’Brien BM, Eklund EE, Lambert-Messerlian GM. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genet Med 2017;19:778–786. PubMed PMC
Patrinos GP, Baker DJ, Al-Mulla F, Vasiliou V, Cooper DN. Genetic tests obtainable through pharmacies: the good, the bad, and the ugly. Hum Genomics 2013;7:17. PubMed PMC
Pau CT, Mosbruger T, Saxena R, Welt CK. Phenotype and tissue expression as a function of genetic risk in polycystic ovary syndrome. PLoS One 2017;12:e0168870. PubMed PMC
Pelosi E, Forabosco A, Schlessinger D. Genetics of the ovarian reserve. Front Genet 2015;6:308. PubMed PMC
Pennisi E. The CRISPR Craze. Science (80-) 2013;341:833–836. PubMed
Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A, Danish Fetal Medicine Study Group, Danish Clinical Genetics Study Group . Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol 2014;43:265–271. PubMed
Pevec U, Rozman N, Gorsek B, Kunej T. RASopathies: presentation at the genome, interactome, and phenome levels. Mol Syndromol 2016;7:72–79. PubMed PMC
PGDIS Preimplantation Genetic Diagnosis International Society Position Statement on Chromosome Mosaicism and Preimplantation Aneuploidy Testing at the Blastocyst Stage. 2016;1–2. Available from: http://www.pgdis.org/docs/newsletter_071816.html.
Punab M, Poolamets O, Paju P, Vihljajev V, Pomm K, Ladva R, Korrovits P, Laan M. Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts. Hum Reprod 2017;32:18–31. PubMed PMC
Qin Y, Jiao X, Simpson JL, Chen Z-J. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update 2015;21:787–808. PubMed PMC
Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim S-H, Kim H-G, Chorich LP, Sullivan ME, Choi J-H, Cameron RS et al. . Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 2016;437:86–96. PubMed
Reznichenko A, Huyser C, Pepper M. Mitochondrial transfer: Implications for assisted reproductive technologies. Appl Transl Genomics 2016;11:40–47. PubMed PMC
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al. . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–423. PubMed PMC
Richardson J, Irving L, Hyslop LA, Choudhary M, Murdoch A, Turnbull DM, Herbert M. Concise reviews: assisted reproductive technologies to prevent transmission of mitochondrial DNA disease. Stem Cells 2015;33:639–645. PubMed PMC
Rijnders RJ, van der Schoot CE, Bossers B, de Vroede MA, Christiaens GC. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol 2001;98:374–378. PubMed
Rose NC, Benn P, Milunsky A. Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications? Prenat Diagn 2016;36:10–14. PubMed
Rossetti R, Ferrari I, Bonomi M, Persani L. Genetics of primary ovarian insufficiency. Clin Genet 2017;91:183–198. PubMed
Sälevaara M, Suikkari A-M, Söderström-Anttila V. Attitudes and disclosure decisions of Finnish parents with children conceived using donor sperm. Hum Reprod 2013;28:2746–2754. PubMed
Salvi S, Gurioli G, De Giorgi U, Conteduca V, Tedaldi G, Calistri D, Casadio V. Cell-free DNA as a diagnostic marker for cancer: current insights. Oncol Targets Ther 2016;9:6549–6559. PubMed PMC
Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. Clin Genet 2016. 10.1111/cge.12954. PubMed DOI
Scott RT, Galliano D. The challenge of embryonic mosaicism in preimplantation genetic screening. Fertil Steril 2016;105:1150–1152. PubMed
Seisenberger S, Peat JR, Hore TA, Santos F, Dean W, Reik W. Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers. Philos Trans R Soc Lond B Biol Sci 2013;368:20110330. PubMed PMC
Sermon K, Capalbo A, Cohen J, Coonen E, De Rycke M, De Vos A, Delhanty J, Fiorentino F, Gleicher N, Griesinger G et al. . The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. Mol Hum Reprod 2016;22:845–857. PubMed PMC
Sherkow JS. CRISPR: Pursuit of profit poisons collaboration. Nature 2016;532:172–173. PubMed
Simpson JL, Rechitsky S. Preimplantation diagnosis and other modern methods for prenatal diagnosis. J Steroid Biochem Mol Biol 2017;165:124–130. PubMed
Smallwood SA, Kelsey G. De novo DNA methylation: a germ cell perspective. Trends Genet 2012;28:33–42. PubMed
Smallwood SA, Tomizawa S-I, Krueger F, Ruf N, Carli N, Segonds-Pichon A, Sato S, Hata K, Andrews SR, Kelsey G. Dynamic CpG island methylation landscape in oocytes and preimplantation embryos. Nat Genet 2011;43:811–814. PubMed PMC
Smith ZD, Chan MM, Humm KC, Karnik R, Mekhoubad S, Regev A, Eggan K, Meissner A. DNA methylation dynamics of the human preimplantation embryo. Nature 2014;511:611–615. PubMed PMC
Soini S, Ibarreta D, Anastasiadou V, Aymé S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L et al. . The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet 2006;14:588–645. PubMed
St. John JC. Mitochondrial DNA copy number and replication in reprogramming and differentiation. Semin Cell Dev Biol 2016;52:93–101. PubMed
Stigliani S, Persico L, Lagazio C, Anserini P, Venturini PL, Scaruffi P. Mitochondrial DNA in Day 3 embryo culture medium is a novel, non-invasive biomarker of blastocyst potential and implantation outcome. Mol Hum Reprod 2014;20:1238–1246. PubMed
Strong A, Musunuru K. Genome editing in cardiovascular diseases. Nat Rev Cardiol 2016;14:11–20. PubMed
Sunde A, Brison D, Dumoulin J, Harper J, Lundin K, Magli MC, Van den Abbeel E, Veiga A. Time to take human embryo culture seriously. Hum Reprod 2016;31:2174–2182. PubMed
Tachibana M, Amato P, Sparman M, Gutierrez NM, Tippner-Hedges R, Ma H, Kang E, Fulati A, Lee H-S, Sritanaudomchai H et al. . Human embryonic stem cells derived by somatic cell nuclear transfer. Cell 2013;153:1228–1238. PubMed PMC
Tachibana M, Sparman M, Sritanaudomchai H, Ma H, Clepper L, Woodward J, Li Y, Ramsey C, Kolotushkina O, Mitalipov S. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 2009;461:367–372. PubMed PMC
Tachibana M, Amato P, Sparman M, Woodward J, Sanchis DM, Ma H, Gutierrez NM, Tippner-Hedges R, Kang E, Lee H-S et al. . Towards germline gene therapy of inherited mitochondrial diseases. Nature 2012;493:627–631. PubMed PMC
Takasaki N, Tachibana K, Ogasawara S, Matsuzaki H, Hagiuda J, Ishikawa H, Mochida K, Inoue K, Ogonuki N, Ogura A et al. . A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility. Proc Natl Acad Sci USA 2014;111:1120–1125. PubMed PMC
Tamminga S, van Maarle M, Henneman L, Oudejans CBM, Cornel MC, Sistermans EA. Maternal plasma DNA and RNA sequencing for prenatal testing. Adv Clin Chem 2016;74:63–102. PubMed
Tang H, Yan Y, Wang T, Zhang T, Shi W, Fan R, Yao Y, Zhai S. Effect of follicle-stimulating hormone receptor Asn680Ser polymorphism on the outcomes of controlled ovarian hyperstimulation: an updated meta-analysis of 16 cohort studies. J Assist Reprod Genet 2015;32:1801–1810. doi: 10.1007/s10815-015-0600-5. PubMed PMC
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 2016;6:e010002. PubMed PMC
Thornhill AR, Handyside AH, Ottolini C, Natesan SA, Taylor J, Sage K, Harton G, Cliffe K, Affara N, Konstantinidis M et al. . Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. J Assist Reprod Genet 2015;32:347–356. PubMed PMC
Traeger-Synodinos J. Pre-implantation genetic diagnosis. Best Pract Res Clin Obstet Gynaecol 2017;39:74–88. PubMed
Tucker EJ, Grover SR, Bachelot A, Touraine P, Sinclair AH. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum. Endocr Rev 2016;37:609–635. PubMed
Vajta G, Rienzi L, Ubaldi FM. Open versus closed systems for vitrification of human oocytes and embryos. Reprod Biomed Online 2015;30:325–333. PubMed
Van den Veyver IB. Recent advances in prenatal genetic screening and testing. F1000Research 2016;5:2591. PubMed PMC
van Montfoort APA, Hanssen LLP, de Sutter P, Viville S, Geraedts JPM, de Boer P. Assisted reproduction treatment and epigenetic inheritance. Hum Reprod Update 2012;18:171–197. PubMed PMC
Van Opstal D, Srebniak MI. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev Mol Diagn 2016;16:513–520. PubMed
Vassena R, Heindryckx B, Peco R, Pennings G, Raya A, Sermon K, Veiga A. Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells. Hum Reprod Update 2016;22:411–419. PubMed
Verhoef TI, Hill M, Drury S, Mason S, Jenkins L, Morris S, Chitty LS. Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways. Prenat Diagn 2016;36:636–642. PubMed PMC
Vermeesch JR, Voet T, Devriendt K. Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet 2016;17:643–656. PubMed
Victor AR, Brake AJ, Tyndall JC, Griffin DK, Zouves CG, Barnes FL, Viotti M. Accurate quantitation of mitochondrial DNA reveals uniform levels in human blastocysts irrespective of ploidy, age, or implantation potential. Fertil Steril 2017;107:34–42.e3. PubMed
Wald NJ, Bestwick JP, Huttly WJ. Improvements in antenatal screening for Down's syndrome. J Med Screen 2013;20:7–14. PubMed PMC
Wald NJ, Huttly WJ, Bestwick JP, Aquilina J, Peregrine E. Reflex antenatal DNA screening for Down syndrome. Prenat Diagn 2015;35:1154–1154. PubMed
Walton D. The slippery slope argument in the ethical debate on genetic engineering of humans. Sci Eng Ethics 2016. http://www.ncbi.nlm.nih.gov/pubmed/28000092. PubMed
Wang J, Zhang W, Jiang H, Wu B-L, Primary Ovarian Insufficiency Collaboration . Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med 2014;370:972–974. PubMed
White YAR, Woods DC, Takai Y, Ishihara O, Seki H, Tilly JL. Oocyte formation by mitotically active germ cells purified from ovaries of reproductive-age women. Nat Med 2012;18:413–421. PubMed PMC
Wilkinson J, Roberts SA, Vail A. Developments in IVF warrant the adoption of new performance indicators for ART clinics, but do not justify the abandonment of patient-centred measures. Hum Reprod 2017;32:1155–1159. PubMed
Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns 2013;22:4–15. PubMed
Wolf DP, Mitalipov N, Mitalipov S. Mitochondrial replacement therapy in reproductive medicine. Trends Mol Med 2015;21:68–76. PubMed PMC
Woods DC, Tilly JL. Autologous germline mitochondrial energy transfer (AUGMENT) in human assisted reproduction. Semin Reprod Med 2015;33:410–421. PubMed PMC
Yatsenko SA, Rajkovic A. Chromosomal causes of infertility: the story continues In: Sermon K, Viville S (eds). Textb Hum Reprod Genet. Cambridge: Cambridge University Press, 2014, 97.
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A et al. . X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med 2015;372:2097–2107. PubMed PMC
Yotova I, Hsu E, Do C, Gaba A, Sczabolcs M, Dekan S, Kenner L, Wenzl R, Tycko B. Epigenetic alterations affecting transcription factors and signaling pathways in stromal cells of endometriosis. PLoS One 2017;12:e0170859. PubMed PMC
Yuan P, He Z, Zheng L, Wang W, Li Y, Zhao H, Zhang VW, Zhang Q, Yang D. Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature. Hum Reprod 2017;32:1–10. PubMed
Zadeh S. Disclosure of donor conception in the era of non-anonymity: safeguarding and promoting the interests of donor-conceived individuals? Hum Reprod 2016;31:2416–2420. PubMed
Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E et al. . Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet 2015;96:894–912. PubMed PMC
Zamudio N, Barau J, Teissandier A, Walter M, Borsos M, Servant N, Bourc’his D. DNA methylation restrains transposons from adopting a chromatin signature permissive for meiotic recombination. Genes Dev 2015;29:1256–1270. PubMed PMC
Zegers-Hochschild F, Adamson GD, Dyer S, Racowsky C, de Mouzon J, Sokol R, Rienzi L, Sunde A, Schmidt L, Cooke ID et al. . The international glossary on infertility and fertility care. Fertil Steril 2017;108:393–406. doi: 10.1016/j.fertnstert.2017.06.005. PubMed
Zhang J, Zhuang G, Zeng Y, Grifo J, Acosta C, Shu Y, Liu H. Pregnancy derived from human zygote pronuclear transfer in a patient who had arrested embryos after IVF. Reprod Biomed Online 2016a;33:529–533. PubMed
Zhang Y, Li N, Wang L, Sun H, Ma M, Wang H, Xu X, Zhang W, Liu Y, Cram DS et al. . Molecular analysis of DNA in blastocoele fluid using next-generation sequencing. J Assist Reprod Genet 2016b;33:637–645. PubMed PMC
Zhang J, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu Z, Yang M, Merhi Z, Silber SJ, Munné S et al. . Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. Reprod Biomed Online 2017a;34:361–368. PubMed
Zhang S-P, Lu C-F, Gong F, Xie P-Y, Hu L, Zhang S-J, Lu G-X, Lin G. Polar body transfer restores the developmental potential of oocytes to blastocyst stage in a case of repeated embryo fragmentation. J Assist Reprod Genet 2017b;34:563–571. PubMed PMC
Zheng H, Jin H, Liu L, Liu J, Wang W-H. Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos. Mol Cytogenet 2015;8:38. PubMed PMC