Preimplantation genetic diagnosis (PGD): Results from a Parisian center;Indications et résultats du diagnostic pré-implantatoire (DPI)

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 35, Issue 4, 2006, Pages 356-372

  Feyereisen, E ^a   Romana, S ^a   Kerbrat, V ^a   Steffann, J ^a   Gigarel, N ^a   Lelorc'h, M ^a   Burlet, P ^a   Ray, P ^a   Hamamah, S ^b   Chevalier, N ^a   Fanchin, R ^a   Foix L'Helias L ^a   Tachdjian, G ^b   Munnich, A ^a   Frydman, R ^a   Vekemans, M ^a   Frydman, N ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Chromosomal rearrangements; Mitochondrial DNA disorders; Preimplantation genetic diagnosis (PGD); Single gene defects; X linked diseases

Indexed keywords

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; ARTIFICIAL INSEMINATION; BECKER MUSCULAR DYSTROPHY; CHROMOSOME ABERRATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DUCHENNE MUSCULAR DYSTROPHY; EMBRYO; EMBRYO TRANSFER; FEMALE; FRAGILE X SYNDROME; GENETIC ANALYSIS; GENETIC SCREENING; HEMOPHILIA; HUMAN; HYDROCEPHALUS; INTRACYTOPLASMIC SPERM INJECTION; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; OOCYTE; PRENATAL DIAGNOSIS; TWIN PREGNANCY; X CHROMOSOME LINKED DISORDER;

EID: 33745036549     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0368-2315(06)76408-0     Document Type: Article

References (56)

1. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344: 768-70.
2. Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998; 102: 117-23.
3. Pierce KE, Fitzgerald LM, Seibel MM, Zilberstein M. Preimplantation genetic diagnosis of chromosome balance in embryos from a patient with a balanced reciprocal translocation. Mol Hum Reprod 1998; 4: 167-72.
4. Liu J, Lissens W, Silber SJ, Devroey P, Liebaers I, Van Steirteghem A. Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. JAMA 1994; 272: 1858-60.
5. Ao A, Ray P, Harper J, Lesko J, Paraschos T, Atkinson G et al. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). Prenat Diagn 1996; 16: 137-42.
6. Blaszczyk A, Tang YX, Dietz HC, Adler A, Berkeley AS, Krey LC et al. Preimplantation genetic diagnosis of human embryos for Marfan's syndrome. J Assist Reprod Genet 1998; 15: 281-4.
7. Campana M, Serra A, Neri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet 1986; 24: 341-56.
8. Katz MG, Fitzgerald L, Bankier A, Savulescu J, Cram DS. Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD). Prenat Diagn 2002; 22: 1117-22.
9. Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA et al. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 2004; 20: 35-48. Epub 2004 Nov 11.
10. Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat Diagn 2002; 22: 512-8.
11. ESHRE PGD Consortium Steering Committee. ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection IV: May-December 2001. Hum Reprod 2005; 20: 19-34.
12. Geraedts JP, Harper J, Braude P, Sermon K, Veiga A, Gianaroli L et al. Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenat Diagn 2001; 21: 1086-92.
13. Liebaers I, Sermon K, Staessen C, Joris H, Lissens W, Van Assche E et al. Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection. Hum Reprod 1998; 13 (suppl. 1): 186-95.
14. De Vos A, Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat Diagn 2001; 21: 767-80.
15. Ray PF, Ao A, Taylor DM, Winston RM, Handyside AH. Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice. Prenat Diagn 1998; 18: 1402-12.
16. Ray PF, Gigarel N, Bonnefont JP, Attie T, Hamamah S, Frydman N et al. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn 2000; 20: 1048-54.
17. Ray PF, Vekemans M, Munnich A. Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Mol Hum Reprod 2001; 7: 489-94.
18. Ray PF, Frydman N, Attie T, Hamamah S, Kerbrat V, Tachdjian G et al. Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. Mol Hum Reprod 2002; 8: 688-94.
19. Burlet P, Frydman N, Gigarel N, Bonnefont JP, Kerbrat V, Tachdjian G et al. Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil Steril 2005; 84: 734-9.
20. Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R et al. Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28. Hum Genet 2004; 114: 298-305. Epub 2003 Dec 12.
21. Gigarel N, Ray PF, Burlet P, Frydman N, Royer G, Lebon S et al. Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR. Mol Genet Metab 2005; 84: 289-92. Epub 2004 Dec 9.
22. Harper JC, Coonen E, Ramaekers FC, Delhanty JD, Handyside AH, Winston RM et al. Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labelled probes. Hum Reprod 1994; 9: 721-4.
23. Staessen C, Van Assche E, Joris H, Bonduelle M, Vandervorst M, Liebaers I et al. Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis. Mol Hum Reprod 1999; 5: 382-9.
24. Coonen E, Dumoulin JC, Dreesen JC, Bras M, Evers JL, Geraedts JP. Clinical application of FISH for sex determination of embryos in preimplantation diagnosis of X-linked diseases. J Assist Reprod Genet 1996; 13: 133-6.
25. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998; 18: 1437-49.
26. Scriven PN, O'Mahony F, Bickerstaff H, Yeong CT, Braude P, Mackie Ogilvie C. Clinical pregnancy following blastomere biopsy and PGD for a reciprocal translocation carrier: analysis of meiotic outcomes and embryo quality in two IVF cycles. Prenat Diagn 2000; 20: 587-92.
27. Frydman N, Fanchin R, Le Du A, Bourrier MC, Tachdjian G, Frydman R. Improvement of IVF results and optimisation of quality control by using intermittent activity. Reprod Biomed Online 2004; 9: 521-8.
28. Marozzi A, Vegetti W, Manfredini E, Tibiletti MG, Testa G, Crosignani PG et al. Association between idiopathic premature ovarian failure and fragile X premutation. Hum Reprod 2000; 15: 197-202.
29. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97: 189-94.
30. Platteau P, Sermon K, Seneca S, Van Steirteghem A, Devroey P, Liebaers I. Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible. Hum Reprod 2002; 17: 2807-12.
31. Howard-Peebles PN. Successful pregnancy in a fragile X carrier by donor egg. Am J Med Genet 1996; 64: 377.
32. Apessos A, Abou-Sleiman PM, Harper JC, Delhanty JD. Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat Diagn 2001; 21: 504-11.
33. Feyereisen E, Amar A, Kerbrat V, Steffann J, Munnich A, Vekemans M et al. Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation? Hum Reprod 2005; (in press).
34. Chen SH, Escudero T, Cekleniak NA, Sable DB, Garrisi MG, Munne S. Patterns of ovarian response to gonadotropin stimulation in female carriers of balanced translocation. Fertil Steril 2005; 83: 1504-9.
35. st Annual Meeting of the ASRM, Montreal, Quebec, Canada, 15-19/10/2005. Fertil Steril 2005; 84 (abstracts book): S338.
36. Kyu Lim C, Hyun Jun J, Mi Min D, Lee HS, Young Kim J, Koong MK et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 2004; 24: 556-61.
37. Fridstrom M, Ahrlund-Richter L, Iwarsson E, Malmgren H, Inzunza J, Rosenlund B et al. Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities. Prenat Diagn 2001; 21: 781-7.
38. Munne S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000; 73: 1209-18.
39. Steffann J, Frydman N, Gigarel N, Burlet P, Ray PF, Fanchin R et al. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet 2006; 43: 244-7.
40. Vandervorst M, Staessen C, Sermon K, De Vos A, Van de Velde H, Van Assche E et al. The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis. Hum Reprod Update 2000; 6: 364-73.
41. Sermon K. Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum Reprod Update 2002; 8: 11-20.
42. Frydman N, Ray P, Romana S, Fanchin R, Lelorc'h M, Kerbrat V et al. First birth after preimplantation genetic diagnosis performed on thawed embryos. J Gynecol Obstet Biol Reprod 2003; 32: 363-7.
43. Lalic I, Catt J and MacArthur S. Pregnancies after cryopreservation of embryos biopsied for PGD. Hum Reprod 2001; 16 (abstract book 1): 32.
44. Jericho H, Wilton L, Gook DA, Edgar DH. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos. Hum Reprod 2003; 18: 568-71.
45. Hardy K, Martin KL, Leese HJ, Winston RM, Handyside AH. Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 1990; 5: 708-14.
46. Sermon K, Goossens V, Seneca S, Lissens W, De Vos A, Vandervorst M, et al. Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos. Prenat Diagn 1998; 18: 1427-36.
47. Van de Velde H, De Vos A, Sermon K, Staessen C, De Rycke M, Van Assche E et al. Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat Diagn 2000; 20: 1030-7.
48. Pickering S, Polidoropoulos N, Caller J, Scriven P, Ogilvie CM, Braude P. Preimplantation Genetic Diagnosis Study Group. Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil Steril 2003; 79: 81-90.
49. Liu J, Van den Abbeel E, Van Steirteghem A. The in-vitro and in-vivo developmental potential of frozen and non-frozen biopsied 8-cell mouse embryos. Hum Reprod 1993; 8: 1481-6.
50. Harper JC, Wells D, Piyamongkol W, Abou-Sleiman P, Apessos A, Ioulianos A, et al. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 2002; 22: 525-33.
51. Moutou C, Gardes N, Viville S. Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach. Prenat Diagn 2004; 24: 562-9.
52. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet 2004; 363: 1633-41.
53. Tachdjian G, Frydman N, Audibert F, Ray P, Kerbrat V, Ernault P et al. Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre. Hum Reprod 2002; 17: 2183-6.
54. st Annual meeting of the ASRM, Montreal, Quebec, Canada, 15-19/10/2005. Fertil Steril 2005; 84 (abstracts book): S100.
55. Vandervorst M, Liebaers I, Sermon K, Staessen C, De Vos A, Van de Velde H et al. Successful preimplantation genetic diagnosis is related to the number of available cumulus-oocyte complexes. Hum Reprod 1998; 13: 3169-76.
56. Lavery SA, Aurell R, Turner C, Castello C, Veiga A, Barri PN et al. Preimplantation genetic diagnosis: patients' experiences and attitudes. Hum Reprod 2002; 17: 2464-7.