Preimplantation genetic diagnosis for β-thalassaemia: The Sardinian experience

Prenatal Diagnosis

Volumn 24, Issue 12, 2004, Pages 949-954

  Monni, Giovanni ^a   Cau, Giuseppina ^a   Usai, Valeria ^a   Perra, Graziella ^a   Lai, Rosalba ^a   Ibba, Giuseppe ^b   Faà, Valeria ^b   Incani, Federica ^b   Rosatelli, Maria Cristina ^b  

^a Osp Regionale per le Microcitemie   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

thalassaemia; IVF; PGD; Preimplantation diagnosis; Termination of pregnancy

Indexed keywords

ARTICLE; BETA THALASSEMIA; BIOPSY; CHORION VILLUS SAMPLING; CONTROLLED STUDY; EMBRYO; FERTILIZATION; FERTILIZATION IN VITRO; FIRST TRIMESTER PREGNANCY; GENETIC ANALYSIS; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; HUMAN TISSUE; INTRACYTOPLASMIC SPERM INJECTION; MAJOR CLINICAL STUDY; OOCYTE DEVELOPMENT; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

BETA-THALASSEMIA; BIOPSY; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; EMBRYO; EMBRYO CULTURE TECHNIQUES; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; HUMANS; ITALY; MALE; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS; SPERM INJECTIONS, INTRACYTOPLASMIC;

EID: 10844270509     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1051     Document Type: Article

References (34)

1. Cao A, Cossu P, Monni G, Rosatelli MC. 1987. Chorionic villus sampling and acceptance rate of prenatal diagnosis. Prenat Diagn 7: 531-533.
2. Cao A, Rosatelli MC, Galanello R, et al. 1989. The prevention of thalassemia in Sardinia. Clin Genet 36: 277-285.
3. Cao A, Rosatelli MC, Monni G, Galanello R. 2002. Screening for thalassemia. A model of success. Obstet Gynecol Clin N Am 29: 305-328.
4. Chamayou S, Alecci C, Giambona A, et al. 2002. Successful application of preimplantation genetic diagnosis for β-thalassaemia and sickle cell anaemia in Italy. Hum Reprod 17: 1158-1165.
5. Chamayou S, Guglielmino A, Giambona A, et al. 1998. Attitude of potential consumers in Sicily towards preimplantation genetic diagnosis for β-thalassemia and aneuploidies. Hum Reprod 13: 1936-1944.
6. 2+-free medium on the biopsy procedure for preimplantation genetic diagnosis and further development of human embryos. Hum Reprod 13: 2880-2883.
7. ESHRE PGD Consortium Steering Committee. 2002. ESHRE preimplantation genetic diagnosis consortium: data collection III (May 2001). Hum Reprod 17: 233-246.
8. Fiorentino F, Magli MC, Podini D, et al. 2003. The minisequencing method: an alternative strategy for preimplantation genetic of single gene disorders. Mol Human Reprod 9: 399-410.
9. Gardner DK, Schoolcraft WB, Wagley L, Schlenker T, Stevens J, Helsa J. 1998. A prospective randomized trial of blastocyst culture and transfer in-vitro fertilization. Hum Reprod 13: 3434-3440.
10. Handyside AH, Kontogianni EH, Hardy K, Winston RM. 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768-770.
11. Handyside AH, Lesco JG, Tarín JJ, Winston RM, Hughes MR. 1992. Birth of normal girl after in-vitro fertilization and pre-implantation diagnosis for cystic fibrosis. N Engl J Med 327: 905-909.
12. Hardy K, Martin KL, Leese HL, Winston RM, Handyside AH. 1990. Human preimplantation development in-vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 5: 708-714.
13. Harper JC, Delhanty JD. 2000. Preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 12: 67-72.
14. Harper JC, Wells D, Piyamongkol W, et al. 2002. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 22: 525-533.
15. Kanavakis E, Vrettou C, Palmer G, Tzetis M, Mastrominas M, Traeger-Synodinos J. 1999. Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn 19: 1217-1222.
16. Kuliev A, Rechitsky S, Verlinsky O, et al. 1999. Birth of healthy children after preimplantation diagnosis of thalassemias. J Assist Reprod Genet 16: 207-211.
17. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Evsikov S, Wolf G et al. 1998. Preimplantation diagnosis of thalassemias. J Assist Reprod Genet 15: 219-25.
18. Liebaers I, Sermon K, Staessen C, et al. 1998. Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection. Hum Reprod 13(Suppl 1): 186-195.
19. Monni G, Ibba RM, Lai R, et al. 1993. Early transabdominal chorionic villus sampling in couples at high genetic risk. Am J Obstet Gynecol 168(1 pt 1): 170-173.
20. Palermo G, Joris H, Devroey P, Van Steirteghem AC. 1992. Pregnancies after intracytoplasmic injection of single spermatozoa into an oocyte. Lancet 340: 17-18.
21. Palomba ML, Monni G, Lai R, Cau G, Olla G, Cao A. 1994. Psychological implications and acceptability of preimplantation diagnosis. Hum Reprod 9(2): 360-362.
22. Pergament E. 1991. Preimplantation diagnosis patient perspective. Prenat Diagn 11: 493-500.
23. Pickering S, Polidoropoulos N, Caller J, Scriven P, Ogilvie CM, Braude P. and The PGD Study Group. 2003. Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil Steril 79: 81-90.
24. Piyamongkol W, Bermùdez MG, Harper JC, Wells D. 2003. Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Human Reprod 9: 411-420.
25. Piyamongkol W, Harper JC, Delhanty JDA, Wells D. 2001. Preimplantation genetic diagnosis protocols for α- and β-thalassaemias using multiplex fluorescent PCR. Prenat Diagn 21: 753-759.
26. Ray PF, Handyside AH. 1996b. Increasing the denaturation temperature during the first cycle of amplification reduces allele dropout from single cells from preimplantation genetic diagnosis. Mol Hum Reprod 3: 213-218.
27. Ray PF, Kaeda JS, Bingham J, Roberts I, Handyside AH. 1996a. Preimplantation genetic diagnosis of β-thalassaemia major. Lancet 347: 1696.
28. Rosatelli C, Tuveri T, Scalas MT, et al. 1992. Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population. Hum Genet 89(6): 585-589.
29. Sermon K, Van Steirteghem A, Liebaers I. 2004. Preimplantation genetic diagnosis. Lancet 363: 1633-1641.
30. Strom CM, Ginsberg N, Rechitsky S, et al. 1998. Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis. Am J Obstet Gynecol 178: 1298-1306.
31. Thornhill AR, McGrath JA, Eady RAJ, Braude PR, Handyside AH. 2001. A comparison of different lysis buffer to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn 21: 490-497.
32. Vandervorst M, Liebaers I, Sermon K, et al. 1998. Successful preimplantation genetic diagnosis is related to the number of available cumulus-oocyte complexes. Hum Reprod 13: 3169-3176.
33. Weatherall DJ, Clegg JB. 2001. The Thalassaemia Syndromes (4th edn). Blackwell Scientific Publication: Oxford.
34. WHO Scientific Group. 1996. Control of hereditary diseases. WHO Technical Report Series 865: 1-84.