An evaluation of PGD in clinical genetic services through 3 years application for prevention of β-thalassaemia major and sickle cell thalassaemia

Molecular Human Reproduction

Volumn 9, Issue 5-6, 2003, Pages 301-307

  Traeger Synodinos, Joanne ^a   Vrettou, Christina ^a   Palmer, Giles ^b,c   Tzetis, Maria ^a   Mastrominas, Minas ^b   Davies, Stephen ^b   Kanavakis, Emmanuel ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b Embryogenesis Centre for Reproductive and Fertility Studies   (Greece)

^c MITERA HOSPITAL   (Greece)

Author keywords

thalassaemia major and HbS; Genetic services; PGD; Prenatal diagnosis

Indexed keywords

ARTICLE; BIOPSY; BLASTOMERE; CELL COUNT; CONTROLLED STUDY; COUNSELING; DIAGNOSTIC ERROR; EMBRYO; EMBRYO DEVELOPMENT; EMBRYO TRANSFER; FEMALE; FIRST TRIMESTER PREGNANCY; GENETIC SCREENING; GENOTYPE; HEALTH CARE QUALITY; HEALTH SERVICE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MULTIPLE PREGNANCY; OOCYTE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REPRODUCTIVE HEALTH; SECOND TRIMESTER PREGNANCY; SICKLE CELL ANEMIA; THALASSEMIA MAJOR;

ANEMIA, SICKLE CELL; BETA-THALASSEMIA; FEMALE; HUMANS; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS;

EID: 0038649598     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Cao, A., Galanello, R. and Rosatelli, M.C. (1998) Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin. Haematol., 11, 215-238.
2. De Rycke, M., Van de Velde, H., Sermon, K., Lissens, W., De Vos, A., Vandervorst, M., Vanderfaeillie, A., Van Steirteghem, A. and Liebaers, I. (2001) Preimplantation genetic diagnosis for sickle-cell anemia and for β-thalassemia. Prenat. Diagn., 21, 214-222.
3. Edwards, R.G. and Beard, H.K. (1999) Blastocyst stage transfer: pitfalls and benefits. Is the success of human IVF more a matter of genetics and evolution than growing blastocysts? Hum. Reprod., 14, 1-6.
4. Edwards, R.G. and Hollands, P. (1988) New advances in human embryology: implications of the preimplantation diagnosis of genetic disease. Hum. Reprod., 3, 549-556.
5. El-Hashemite, N., Wells, D. and Delhanty, J.D.A. (1997) Single-cell detection of β-thalassaemia mutations using silver-stained SSCP analysis: an application for preimplantation diagnosis. Mol. Hum. Reprod, 3, 693-698.
6. ESHRE PGD Consortium Steering Committee (2002) ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection III, May 2001. Hum. Reprod., 17, 233-246.
7. European IVF-Monitoring Programme (1997) Assisted reproductive technology in Europe. Results generated from European registers by ESHRE. Hum. Reprod., 16, 384-391.
8. Gardner, D., Schoolcraft, W., Wagley, L., Schlenker, T., Stevens, J. and Hesla, J. (1998) A prospective randomized trail of blastocyst culture and transfer in in-vitro fertilization. Hum. Reprod, 13, 3434-3440.
9. Handyside, A.H., Pattinson, J.K., Penketh, R.J., Delhanty, J.D., Winston, R.M. and Tuddenham, E.G. (1989) Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet, i, 347-349.
10. Hardy, K., Martin, K.L., Leese, H.J., Winston, R.M.L. and Handyside, A.H. (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum. Reprod., 5, 708-714.
11. Harper, J.C. and Delhanty, J.D.A. (2000) Preimplantation genetic diagnsosis. Curr. Opin. Obstetr. Gynecol., 12, 67-72.
12. Harper, J.C., Wells, D., Piyamongkol, W., Abou-Sleiman, P., Apessos, A., Ioulianos, I., Davis, M., Doshi, A., Serhal, P., Ranieri, M. et al. (2002) Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat. Diagn., 22, 525-533.
13. Ho, P.J., Hall, G.W., Luo, L.Y., Weatherall, D.J. and Thein, S.L. (1998) Beta thalassaemia intermedia: is it possible consistently to predict phenotype from genotype? Brit. J. Haematol., 100, 70-78.
14. Holding, C. and Monk, M. (1989) Diagnosis of beta-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet, ii, 532-535.
15. Kanavakis, E. and Traeger-Synodinos, J. (2002) Preimplantation genetic diagnosis in clinical practice. J. Med. Genet., 39, 6-11.
16. Kanavakis, E., Traeger-Synodinos, J., Vrettou, C., Maragoudaki, E., Tzetis, M. and Kattamis, C. (1997) Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods. Mol. Hum. Reprod., 3, 523-528.
17. Kanavakis, E., Vrettou, C., Palmer, G., Tzetis, M., Mastrominas, M. and Traeger-Synodinos, J. (1999) Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat. Diagn., 19, 1217-1222.
18. Kuliev, A., Rechitsky, S., Verlinsky, O., Ivakhnenko, V., Eviskov, S., Wolf, G., Angastiniotis, M., Georghiou, D., Kukharenko, V., Strom, C. et al. (1998) Preimplanation diagnosis of thalassemias. J. Assist. Reprod Genet., 15, 219-225.
19. Lewis, C.M., Pinel, T., Whittaker, J.C. and Handysie, A.H. (2001) Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum. Reprod., 16, 43-50.
20. Losekoot, M., Fodde, R., Harteveld, C.L., van Heeren, H., Giordano, P.C. and Bernini, L.F. (1990) Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassemia. Brit. J. Haematol., 76, 269-274.
21. Loukopoulos, D (1996) Current status of thalassaemia and the sickle cell syndromes in Greece. Semin. Hematol., 33, 76-86.
22. Palmer, G.A., Traeger-Synodinos, J., Davies, S., Tzetis, M., Vrettou, C., Mastrominas, M. and Kanavakis, E. (2002) Pregnancies following blastocyst stage transfer in PGD cycles at risk for β-thalassaemic haemoglobinopathies. Hum. Reprod., 17, 25-31.
23. Perniola, R., Magliari, F., Rosatelli, M.C. and De Marzi, C.A. (2000) High-risk pregnancy in beta-thalassaemia major women. Report of three cases. Gynaecol. Obstet. Invest., 49, 137-139.
24. Piyamongkol, W., Harper, J.C., Delhanty, J.D.A. and Wells, D. (2001) Preimplantation genetic diagnosis protocols for α- and β-thalassaemias using multiplex fluorescent PCR. Prenat. Diagn., 21, 753-59.
25. Ray, P.F., Kaeda, J.S., Bingham, J., Roberts, I. and Handyside, A.H. (1996) Preimplantation genetic diagnosis of β-thalassaemia major. Lancet, 347, 1696.
26. Sermon, K., Lissens, W., Joris, H., Steirteghem, A.V. and Liebaers, I. (1996) Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol. Hum. Reprod., 2, 209-212.
27. Skordis, N., Christou, S., Koliou, M., Pavlides, N. and Angastiniotis, M. (1998) Fertility in female patients with thalassaemia. J. Pediatr. Endocrinol. Metab., 11, 935-943.
28. Strom, C.M., Levin, R., Strom, S., Masciangelo, C., Kuliev, A. and Verlinsky, Y. (2000) Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants. Pediatrics, 106, 650-653.
29. Traeger-Synodinos, J., Mavroidis, N., Kanavakis, E., Drogari, E., Matsaniotis, N., Humphries, S., Day, I.N.M. and Kattamis, C. (1998) Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independant ancestors account for 60% of probands. Hum. Genet., 102, 343-347.
30. Van de Velde, H., de Vos, A., Sermon, K., Staessen, C., de Rycke, M., Van Assche, E., Lissens, W., Vandervorst, M., Van Ranst, H., Liebaers, I. and Van Steirteghem, A. (2000) Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat. Diagn., 20, 1030-1037.
31. Van Steirteghem, A.C., Nagy, Z., Joris, H., Lui, J., Staessen, C., Smitz, J., Wisanto, A. and Devroey, P. (1993) High fertilization and implantation rates after intracytoplasmic sperm injection. Hum. Reprod., 8, 1061-1066.
32. Vrettou, C., Palmer, G., Kanavakis, E., Tzetis, M., Antoniadi, T., Mastrominas, M. and Traeger-Synodinos, J. (1999) A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat. Diagn., 19, 1209-1216.
33. Weatherall, D.J. (2000) Single gene disorders or complex traits: lessons from thalassaemia and other monogenic diseases. Brit. Med. J., 321, 1117-1120.
34. Wells, D. and Delhanty, J.D. (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genome hybridization. Mol. Hum. Reprod., 6, 1055-1062.
35. Wells, D. and Sherlock, J.K. (1998) Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat. Diagn., 18, 1389-1401.