Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States

Fertility and Sterility

Volumn 92, Issue 5, 2009, Pages 1544-1556

  Gutiérrez Mateo, Cristina ^a   Sánchez García, Jorge F ^a   Fischer, Jill ^a   Tormasi, Sophia ^a   Cohen, Jacques ^a   Munné, Santiago ^a   Wells, Dagan ^a,b  

^a Reprogenetics LLC   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

ADO; allele dropout; contamination; fingerprinting; Monogenic disorders; PCR; single gene disorders

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; BLASTOMERE; CYSTIC FIBROSIS; DISEASE TRANSMISSION; EMBRYO; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DISORDER; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MONOGENIC DISORDER; MULTIPLEX POLYMERASE CHAIN REACTION; OUTCOME ASSESSMENT; PREGNANCY RATE; PREGNANCY TERMINATION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; UNITED STATES;

ADULT; ANEUPLOIDY; BLASTOCYST; CLINICAL LABORATORY TECHNIQUES; FALSE POSITIVE REACTIONS; FEMALE; FERTILIZATION IN VITRO; GENETIC DISEASES, INBORN; HUMANS; MALE; MIDDLE AGED; PREGNANCY; PREIMPLANTATION DIAGNOSIS; RETROSPECTIVE STUDIES; TIME FACTORS; UNITED STATES; YOUNG ADULT;

EID: 70350573031     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.08.111     Document Type: Article

References (44)

1. Sermon K. Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum Reprod Update 8 (2002) 11-20
2. Handyside A.H., Pattinson J.K., Penketh R.J., Delhanty J.D., Winston R.M., and Tuddenham E.G. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1 (1989) 347-349
3. Handyside A.H., Kontogianni E.H., Hardy K., and Winston R.M. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344 (1990) 768-770
4. Liu J., Lissens W., Devroey P., Van Steirteghem A., and Liebaers I. Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos. Hum Reprod 9 (1994) 716-720
5. Verlinsky Y., and Kuliev A. Micromanipulation of gametes and embryos in preimplantation genetic diagnosis and assisted fertilization. Curr Opin Obstet Gynecol 4 (1992) 720-725
6. Verlinsky Y., Handyside A., Grifo J., Munne S., Cohen J., Liebers I., et al. Preimplantation diagnosis of genetic and chromosomal disorders. J Assist Reprod Genet 11 (1994) 236-243
7. Liu J., Lissens W., Silber S.J., Devroey P., Liebaers I., and 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 272 (1994) 1858-1860
8. Handyside A.H., Lesko J.G., Tarin J.J., Winston R.M., and Hughes M.R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327 (1992) 905-909
9. Munne S., and Wells D. Preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 14 (2002) 239-244
10. Sermon K., Van Steirteghem A., and Liebaers I. Preimplantation genetic diagnosis. Lancet 363 (2004) 1633-1641
11. Braude P., Pickering S., Flinter F., and Ogilvie C.M. Preimplantation genetic diagnosis. Nat Rev Genet 3 (2002) 941-953
12. Hardy K., and Handyside A.H. Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Arch Pathol Lab Med 116 (1992) 388-392
13. Sermon K., Lissens W., Nagy Z.P., Van Steirteghem A., and Liebaers I. Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum Reprod 10 (1995) 2214-2217
14. Findlay I., Urquhart A., Quirke P., Sullivan K., Rutherford A.J., and Lilford R.J. Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Hum Reprod 10 (1995) 1005-1013
15. Rechitsky S., Strom C., Verlinsky O., Amet T., Ivakhnenko V., Kukharenko V., et al. Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. J Assist Reprod Genet 16 (1999) 192-198
16. Renwick P.J., Trussler J., Ostad-Saffari E., Fassihi H., Black C., Braude P., et al. Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod Biomed Online 13 (2006) 110-119
17. Rechitsky S., Strom C., Verlinsky O., Amet T., Ivakhnenko V., Kukharenko V., et al. Allele dropout in polar bodies and blastomeres. J Assist Reprod Genet 15 (1998) 253-257
18. Piyamongkol W., Harper J.C., Delhanty J.D., and Wells D. PGD protocols using multiplex fluorescent PCR. Reprod Biomed Online 2 (2001) 212-214
19. Kuliev A., Rechitsky S., Verlinsky O., Ivakhnenko V., Evsikov S., Wolf G., et al. Preimplantation diagnosis of thalassemias. J Assist Reprod Genet 15 (1998) 219-225
20. Ao A., Wells D., Handyside A.H., Winston R.M., and Delhanty J.D. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 15 (1998) 140-144
21. Findlay I., Ray P., Quirke P., Rutherford A., and Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 10 (1995) 1609-1618
22. Navidi W., and Arnheim N. Using PCR in preimplantation genetic disease diagnosis. Hum Reprod 6 (1991) 836-849
23. Piyamongkol W., Bermudez M.G., Harper J.C., and Wells D. Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod 9 (2003) 411-420
24. Tracey M. Short tandem repeat-based identification of individuals and parents. Croat Med J 42 (2001) 233-238
25. Grace J., and Drakeley A. Preimplantation genetic diagnosis. Br J Hosp Med (Lond) 67 (2006) 197-199
26. Feyereisen E., Steffann J., Romana S., Lelorc'h M., Ray P., Kerbrat V., et al. Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles. Fertil Steril 87 (2007) 60-73
27. Pickering S., Polidoropoulos N., Caller J., Scriven P., Ogilvie C.M., and Braude P. Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil Steril 79 (2003) 81-90
28. 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 6 (2000) 364-373
29. Weghofer A., Munne S., Brannath W., Chen S., Tomkin G., Cekleniak N., et al. The impact of LH-containing gonadotropins on diploidy rates in preimplantation embryos: long protocol stimulation. Hum Reprod 23 (2008) 499-503
30. Thornhill A.R., deDie-Smulders C.E., Geraedts J.P., Harper J.C., Harton G.L., Lavery S.A., et al. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 20 (2005) 35-48
31. 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 21 (2006) 670-684
32. Goossens V., De Rycke M., De Vos A., Staessen C., Michiels A., Verpoest W., et al. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod 23 (2008) 481-492
33. Liu J., Van den Abbeel E., and Van Steirteghem A. The in-vitro and in-vivo developmental potential of frozen and non-frozen biopsied 8-cell mouse embryos. Hum Reprod 8 (1993) 1481-1486
34. Munne S., Gianaroli L., Tur-Kaspa I., Magli C., Sandalinas M., Grifo J., et al. Substandard application of preimplantation genetic screening may interfere with its clinical success. Fertil Steril 88 (2007) 781-784
35. Cohen J., Wells D., and Munne S. Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril 87 (2007) 496-503
36. Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online 16 (2008) 134-147
37. Hassold T., and Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2 (2001) 280-291
38. Hassold T.J., and Jacobs P.A. Trisomy in man. Annu Rev Genet 18 (1984) 69-97
39. Munne S., Magli C., Cohen J., Morton P., Sadowy S., Gianaroli L., et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 14 (1999) 2191-2199
40. Rechitsky S., Verlinsky O., Amet T., Rechitsky M., Kouliev T., Strom C., et al. Reliability of preimplantation diagnosis for single gene disorders. Mol Cell Endocrinol 183 Suppl 1 (2001) S65-S68
41. Michiels A., Van Assche E., Liebaers I., Van Steirteghem A., and Staessen C. The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization. Hum Reprod 21 (2006) 2396-2402
42. Grace J., El-Toukhy T., Scriven P., Ogilvie C., Pickering S., Lashwood A., et al. Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. BJOG 113 (2006) 1393-1401
43. Harper J.C., de Die-Smulders C., Goossens V., Harton G., Moutou C., Repping S., et al. ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod 23 (2008) 741-755
44. Soini S. Preimplantation genetic diagnosis (PGD) in Europe: diversity of legislation a challenge to the community and its citizens. Med Law 26 (2007) 309-323