Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: Clinical considerations affecting outcome

BJOG: An International Journal of Obstetrics and Gynaecology

Volumn 113, Issue 12, 2006, Pages 1393-1401

  Grace, J ^a,c   El Toukhy, T ^a   Scriven, P ^a   Ogilvie, C ^a   Pickering, S ^a   Lashwood, A ^a   Flinter, F ^a   Khalaf, Y ^a,b   Braude, P ^a,b  

^a GUY S HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Assisted conception; Live birth; PGD; Preimplantation genetic diagnosis; Translocation

Indexed keywords

AGE DISTRIBUTION; ARTICLE; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CRYOPRESERVATION; EMBRYO TRANSFER; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC IDENTIFICATION; HUMAN; INFORMATION PROCESSING; INTRACYTOPLASMIC SPERM INJECTION; MOLECULAR PROBE; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TEACHING HOSPITAL; UNITED KINGDOM; X CHROMOSOME LINKED DISORDER;

ADULT; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS; REPRODUCTIVE TECHNIQUES, ASSISTED; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 33750930661     PISSN: 14700328     EISSN: 14710528     Source Type: Journal    
DOI: 10.1111/j.1471-0528.2006.01143.x     Document Type: Article

References (46)

1. Flinter FA. Preimplantation diagnosis. BMJ 2001;322:1008-9.
2. Braude PR, Pickering S, Flinter FA, Mackie Ogilvie C. Preimplantation genetic diagnosis. Nat Rev Genet 2002;3:953-66.
3. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, et al. Over a decade of experience with preimplantation diagnosis. Fertil Steril 2004;82:302-3.
4. Harper JC, Boelaert K, Geraedts J, Harton G, Kearns WG, Moutou C, et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow up to October 2003. Hum Reprod 2006;21:3-21.
5. Mackie Ogilvie C, Scriven PN. Preimplantation genetic diagnosis (PGD) for reciprocal translocations. Prenat Diagn 2004;24:553-5.
6. Mackie Ogilvie C, Braude PR, Scriven PN. Successful pregnancy outcomes following preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil 2001;4:168-71.
7. Scriven PN, Flinter FA, Braude PR, Mackie Ogilvie C. Robertsonian translocations - reproductive risks and indications for preimplantation genetic diagnosis (PGD). Hum Reprod 2001;16:2267-73.
8. Munne S, Escudero T, Sandalinas M, Sable D, Cohen J. Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 2000;90:303-8.
9. 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.
10. 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.
11. Bickerstaff H, Flinter F, Yeong CT, Braude P. Clinical application of preimplantation genetic diagnosis. Hum Fertil (Camb) 2001;4:24-30.
12. Pickering S, Polidoropoulos N, Caller J, Scriven P, Ogilvie CM, Braude P, et al. 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.
13. Sermon K. Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum Reprod Update 2002;8:11-20.
14. De Vos A, Sermon K, De Rijcke M, Goossens V, Henderix P, Van Ranst N, et al. Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A. Mol Hum Reprod 2003;9:429-35.
15. Sermon K. The improvement of accuracy in PGD for monogenic disorders: the Brussels experience. Fifth International Symposium on Preimplantation genetic diagnosis, 5-7 June 2003, Antalya, Turkey, Abstract P17.
16. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998;18:1437-49.
17. 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.
18. Human Fertilisation and Embryology Authority. Code of Practice, 6th edn. London, UK: Human Fertilisation and Embryology Authority 2004.
19. Daniels G, Pettigrew R, Thornhill A, Abbs S, Lashwood A, O'Mahony F, et al. Six unaffected live-births following preimplantation diagnosis for spinal muscular atrophy. Mol Hum Reprod 2001;7:995-1000.
20. Goossens V, Sermon K, Lissens W, De Rycke M, Saerens B, De Vos A, et al. Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation. Mol Hum Reprod 2003;9:559-67.
21. Braude PR, De Wert GM, Evers-Kiebooms G, Pettigrew RA, Geraedts JP. Non-disclosure preimplantation genetic diagnosis for Huntington's disease: practical and ethical dilemmas. Prenat Diagn 1998;18:1422-6.
22. Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE, et al. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn 2000;20:1055-62.
23. Khalaf Y, Taylor A, Braude P. Low serum estradiol concentrations after five days of controlled ovarian hyperstimulation for in vitro fertilization are associated with poor outcome. Fertil Steril 2000;74:63-6.
24. Schoolcraft W, Schlenker T, Gee M, Stevens J, Wagley L. Improved controlled ovarian hyperstimulation in poor responder in vitro fertilization patients with a microdose follicle-stimulating hormone flare, growth hormone protocol. Fertil Steril 1997;67:93-7.
25. Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn 2002;4:11-29.
26. Thornhill AR, de Die-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 2005;20:35-48.
27. Fassihi H, Grace J, Lashwood A, Whittock NV, Braude PR, Pickering SJ, et al. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome: birth of a healthy baby four years after embryo diagnosis and following two frozen embryo replacement cycles. Br J Dermatol 2006;154:546-50.
28. 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.
29. 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.
30. de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP. Results from 10 years of preimplantation-genetic diagnostics in The Netherlands Ned Tijdschr Geneeskd 2004;148:2491-6 (Dutch).
31. Gianaroli L, Magli MC, Fiorentino F, Baldi M, Ferraretti AP. Clinical value of preimplantation genetic diagnosis. Placenta 2003;24(Suppl 2):S77-83.
32. Simon C, Landeras J, Zuzuarregui JL, Martin JC, Remohi J, Pellicer A. Early pregnancy losses in in vitro fertilization and oocyte donation. Fertil Steril 1999;72:1061-5.
33. Fedorcsak P, Storeng R, Dale PO, Tanbo T, Abyholm T. Obesity is a risk factor for early pregnancy loss after IVF or ICSI. Acta Obstet Gynecol Scand 2000;79:43-8.
34. Tummers P, De Sutter P, Dhont M. Risk of spontaneous abortion and twin pregnancies after IVF/ICSI. Hum Reprod 2003;18:1720-3.
35. Grace J, El-Toukhy T, Braude PR. Absence of embryo compaction on day 4 of PGD conception cycles is associated with an increased risk of miscarriage. Hum Reprod 2005;20(Suppl 1):O-111.
36. 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.
37. Tarin JJ, Handyside AH. Embryo biopsy strategies for preimplantation diagnosis. Fertil Steril 1993;59:943-52.
38. Edgar DH, Bourne H, Jericho H, McBain JC. The developmental potential of cryopreserved human embryos. Mol Cell Endocrinol 2000;169:69-72.
39. Scriven PN. Preimplantation genetic diagnosis for carriers of reciprocal translocations. J Assoc Genet Tech 2003;29:49-59.
40. Jacobs PA, Hassold TJ. Chromosome abnormalities: origin and etiology in abortions and live births. In: Vogal F, Sperling K, editors. Human Genetics. Berlin, Germany: Springer-Verlag; 1987. pp. 233-44.
41. Munne S. Preimplantation genetic diagnosis and human implantation - a review. Placenta 2003;24(Suppl B):S70-6.
42. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, Fauser BC, et al. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 2006;21:223-33.
43. Rai R, et al. Recurrent miscarriage and parental karyotype abnormalities - prospective pregnancy outcome of spontaneously conceived pregnancies. In: The Society for Gynecological Investigation Annual Meeting, 2004, Houston, TX.
44. Munne S, Chen S, Fischer J, Colls P, Zheng X, Stevens J, et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril 2005;84:331-5.
45. Rubio C, Pehlivan T, Rodrigo L, Simon C, Remohi J, Pellicer A. Embryo aneuploidy screening for unexplained recurrent miscarriage: a mini review. Am J Reprod Immunol 2005;53:159-65.
46. Fiorentino F, Biricik A, Nuccitelli A, De Palma R, Kahraman S, Iacobelli M, et al. Strategies and clinical outcome of 250 cycles of preimplantation genetic diagnosis for single gene disorders. Hum Reprod 2006;21:670-84.