Singling out genetic disorders and disease

Genome Medicine

Volumn 2, Issue 10, 2010, Pages

  De Rycke, Martine ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ACCURACY; BIOPSY; CHROMOSOME ABERRATION; EMBRYO TRANSFER; FERTILIZATION IN VITRO; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GOLD STANDARD; HAPLOTYPE; HLA TYPING; HUMAN; MONOGENIC DISORDER; MULTIPLEX POLYMERASE CHAIN REACTION; POSTHUMOUS CONCEPTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78751692668     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm195     Document Type: Review

References (54)

1. Verlinsky Y, Kuliev A. Preimplantation diagnosis of common aneuploidies in fertile couples of advanced maternal age. Hum Reprod 1996, 11:2076-2077.
2. Checa MA, Alonso-Coello P, Solà I, Robles A, Carreras R, Balasch J. IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis. J Assist Reprod Genet 2009, 26:273-283. 10.1007/s10815-009-9328-4, 2719075, 19629673.
3. Harper J, Coonen E, De Rycke M, Fiorentino F, Geraedts J, Goossens V, Harton G, Moutou C, Pehlivan Budak T, Renwick P, Sengupta S, Traeger-Synodinos J, Vesela K. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. Hum Reprod 2010, 25:821-823. 10.1093/humrep/dep476, 20124394.
4. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990, 344:768-770. 10.1038/344768a0, 2330030.
5. The ESHRE PGD consortium. , http://www.eshre.eu/01/default.aspx?pageid=201
6. Harper J, Coonen E, De Rycke M, Harton G, Moutou C, Pehlivan T, Traeger-Synodinos J, Van Rij M, Goossens V. ESHRE PGD consortium data collection X: Cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod 2010,
7. Verlinsky Y, Rechitsky S, Verlinsky O, Xu K, Schattman G, Masciangelo C, Strom C, Rosenwaks Z, Kuliev A. Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online 2001, 2:102-105. 10.1016/S1472-6483(10)62233-X, 12537806.
8. Spits C, De Rycke M, Van Ranst N, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 2007, 27:447-456. 10.1002/pd.1708, 17330926.
9. Kuliev A, Rechitsky S, Verlinsky O, Tur-Kaspa I, Kalakoutis G, Angastiniotis M, Verlinsky Y. Preimplantation diagnosis and HLA typing for haemoglobin disorders. Reprod Biomed Online 2005, 11:362-370. 10.1016/S1472-6483(10)60845-0, 16176679.
10. Verlinsky Y, Rechitsky S, Sharapova T, Laziuk K, Barsky I, Verlinsky O, Tur-Kaspa I, Kuliev A. Preimplantation diagnosis for immunodeficiencies. Reprod Biomed Online 2007, 14:214-223. 10.1016/S1472-6483(10)60790-0, 17298726.
11. Van de Velde H, De Rycke M, De Man C, De Hauwere K, Fiorentino F, Kahraman S, Pennings G, Verpoest W, Devroey P, Liebaers I. The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing. Hum Reprod 2009, 24:732-740. 10.1093/humrep/den423, 19059946.
12. Devolder K. Preimplantation HLA typing: having children to save our loved ones. J Med Ethics 2005, 31:582-586. 10.1136/jme.2004.010348, 1734026, 16199599.
13. Steffann J, Frydman N, Gigarel N, Burlet P, Ray PF, Fanchin R, Feyereisen E, Kerbrat V, Tachdjian G, Bonnefont JP, Frydman R, Munnich A. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet 2006, 43:244-247. 10.1136/jmg.2005.032326, 2563237, 16155197.
14. Tajima H, Sueoka K, Moon SY, Nakabayashi A, Sakurai T, Murakoshi Y, Watanabe H, Iwata S, Hashiba T, Kato S, Goto Y, Yoshimura Y. The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy. J Assist Reprod Genet 2007, 24:227-232. 10.1007/s10815-007-9114-0, 17342424.
15. Poulton J, Bredenoord AL. 174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands. Neuromuscul Disord 2010, 20:559-563. 10.1016/j.nmd.2010.05.008, 20627569.
16. Poulton J, Chiaratti MR, Meirelles FV, Kennedy S, Wells D, Holt IJ. Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS Genet 2010, 6pii:e1001066. 10.1371/journal.pgen.1001066, 20711358.
17. Bredenoord AL, Dondorp W, Pennings G, De Die-Smulders CE, De Wert G. PGD to reduce reproductive risk: the case of mitochondrial DNA disorders. Hum Reprod 2008, 23:2392-2401. 10.1093/humrep/den290, 18664474.
18. Bredenoord A, Dondorp W, Pennings G, de Die-Smulders C, Smeets B, de Wert G. Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice. Eur J Hum Genet 2009, 17:1550-1559. 10.1038/ejhg.2009.88, 19471315.
19. Liebaers I, Sermon K, Staessen C, Joris H, Lissens W, Van Assche E, Nagy P, Bonduelle M, Vandervorst M, Devroey P, Van Steirteghem A. Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection. Hum Reprod 1998, 13:186-195.
20. De Vos A, Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat Diagn 2001, 21:767-780. 10.1002/pd.172, 11559914.
21. Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom CM. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 1990, 5:826-829.
22. Joris H, De Vos A, Janssens R, Devroey P, Liebaers I, Van Steirteghem A. Comparison of the results of human embryo biopsy and outcome of PGD after zona drilling using acid Tyrode medium or a laser. Hum Reprod 2003, 18:1896-1902. 10.1093/humrep/deg355, 12923146.
23. De Vos A, Staessen C, De Rycke M, Verpoest W, Haentjens P, Devroey P, Liebaers I, Van de Velde H. Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers. Hum Reprod 2009, 24:2988-2996. 10.1093/humrep/dep251, 19773223.
24. Barbash-Hazan S, Frumkin T, Malcov M, Yaron Y, Cohen T, Azem F, Amit A, Ben-Yosef D. Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril 2009, 92:890-896. 10.1016/j.fertnstert.2008.07.1761, 18829021.
25. McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005, 84:1628-1636. 10.1016/j.fertnstert.2005.05.063, 16359956.
26. Kokkali G, Traeger-Synodinos J, Vrettou C, Stavrou D, Jones GM, Cram DS, Makrakis E, Trounson AO, Kanavakis E, Pantos K. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod 2007, 22:1443-1449. 10.1093/humrep/del506, 17261575.
27. McArthur SJ, Leigh D, Marshall JT, Gee AJ, De Boer KA, Jansen RP. Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations. Prenat Diagn 2008, 28:434-442. 10.1002/pd.1924, 18444225.
28. Moutou C, Gardes N, Nicod JC, Viville S. Strategies and outcomes of PGD of familial adenomatous polyposis. Mol Hum Reprod 2007, 13:95-101. 10.1093/molehr/gal102, 17114207.
29. Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K. Preimplantation genetic diagnosis for Marfan syndrome. Fertil Steril 2006, 86:310-320. 10.1016/j.fertnstert.2005.12.059, 16756980.
30. Iacobelli M, Greco E, Rienzi L, Ubaldi F, Podini D, Nuccitelli A, Tesarik J, Baldi M, Fiorentino F. Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X. Reprod Biomed Online 2003, 7:558-562. 10.1016/S1472-6483(10)62072-X, 14680548.
31. Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 2010, 16:329-337. 10.1093/molehr/gaq013, 20172975.
32. Fiorentino F, Kokkali G, Biricik A, Stavrou D, Ismailoglu B, De Palma R, Arizzi L, Harton G, Sessa M, Pantos K. Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 2010,
33. Coskun S, Alsmadi O. Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn 2007, 27:297-302. 10.1002/pd.1667, 17278176.
34. Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K. Whole-genome multiple displacement amplification from single-cells. Nat Protoc 2006, 1:1965-1970. 10.1038/nprot.2006.326, 17487184.
35. Höckner M, Erdel M, Spreiz A, Utermann G, Kotzot D. Whole genome amplification from microdissected chromosomes. Cytogenet Genome Res 2009, 125:98-102. 10.1159/000227832, 19729911.
36. Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single-cells. Reprod Biomed Online 2010, 20:470-476. 10.1016/j.rbmo.2010.01.006, 20144563.
37. Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, Ross R, Alper M, Barrett B, Frederick J, Potter D, Behr B, Rabinowitz M. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod 2010, 25:1066-1075. 10.1093/humrep/dep452, 2839907, 20100701.
38. Treff NR, Su J, Tao X, Miller KA, Levy B, Scott RT. A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos. Fertil Steril 2010, 94:477-484. 10.1016/j.fertnstert.2009.03.067, 19394599.
39. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty J, Munné S. First clinical application of comparative genomic hybridisation and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2002, 78:543-549. 10.1016/S0015-0282(02)03271-5, 12215331.
40. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using CGH. Hum Genet 2000, 106:210-217.
41. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimlantation confirmation of euploidy by comparative genomic hybridisation. N Engl J Med 2001, 345:1537-1541. 10.1056/NEJMoa011052, 11794220.
42. Wells D, Brynn L. Cytogenetics in reproductive medicine: the contribution of comparative genomic hybridisation (CGH). BioEssays 2003, 25:289-300. 10.1002/bies.10232, 12596234.
43. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch JR. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res 2006, 34:e68. 10.1093/nar/gkl336, 16698960.
44. Munne S, Ketterson K, Wagner C, Hill D, Cohen J, Wells D. Pregnancy outcome following comprehensive chromosome analysis at the cleavage and blastocyst stages. Fertil Steril 2010, 94:S175-S176.
45. Scriven PN, Bossuyt PM. Diagnostic accuracy: theoretical models for preimplantation genetic testing of a single nucleus using the fluorescence in situ hybridization technique. Hum Reprod 2010, 25:2622-2628. 10.1093/humrep/deq196, 20675683.
46. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 2009, 24:1221-1228. 10.1093/humrep/den488, 19155287.
47. Thornhill AR, De Die-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Schmutzler AG, Scriven PN, Sermon KD, Wilton L. ESHRE PGD Consortium "Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)". Hum Reprod 2005, 20:35-48. 10.1093/humrep/deh579, 15539444.
48. Preimplantation Genetic Diagnosis International Society The Preimplantation Genetic Diagnosis International Society (PGDIS): Guidelines for good practice in PGD. Reprod Biomed Online 2004, 9:430-434. 10.1016/S1472-6483(10)61279-5, 15511344, Preimplantation Genetic Diagnosis International Society.
49. Preimplantation Genetic Diagnosis International Society (PGDIS) Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online 2008, 16:134-147. 10.1016/S1472-6483(10)60567-6, 18252060, Preimplantation Genetic Diagnosis International Society (PGDIS).
50. Corveleyn A, Morris MA, Dequeker E, Sermon K, Davies JL, Antiñolo G, Schmutzler A, Vanecek J, Nagels N, Zika E, Palau F, Ibarreta D. Provision and quality assurance of preimplantation genetic diagnosis in Europe. Eur J Hum Genet 2008, 16:290-299. 10.1038/sj.ejhg.5201976, 18091772.
51. Vendrell X, Carrero R, Alberola T, Bautista-Llácer R, García-Mengual E, Claramunt R, Pérez-Alonso M. Quality management system in PGD/PGS: now is the time. J Assist Reprod Genet 2009, 26:197-204. 10.1007/s10815-009-9307-9, 2682188, 19266277.
52. 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. 10.1093/humrep/dep450, 20097923.
53. The UK National External Quality Assessment Service (UKNEQAS). , http://www.ukneqas-molgen.org.uk
54. The Cytogenetics European Quality Assessment Service (CEQA). , http://www.ceqa-cyto.eu