Experience in preimplantation genetic diagnosis for exclusion of homozygous α° thalassemia

Prenatal Diagnosis

Volumn 26, Issue 11, 2006, Pages 1029-1036

  Chan, Vivian ^a   Ng, Ernest H Y ^a   Yam, Irene ^a   Yeung, William S B ^a   Ho, P C ^a   Chan, T K ^a  

^a QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Blastomere; Homozygous a thal; PCR; PGD

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; BIOPSY; BLASTOMERE; CLINICAL ARTICLE; FEMALE; FERTILIZATION IN VITRO; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; OOCYTE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ALLELES; ALPHA-THALASSEMIA; BLASTOMERES; FEMALE; HOMOZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS; REPRODUCTIVE TECHNIQUES, ASSISTED;

EID: 33751345813     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1550     Document Type: Article

References (28)

1. Angastiniotis M, Modell B, Englezos P, Boulyjenkov V. 1995. Prevention and control of haemoglobinopathies. Bull World Health Organ 73: 375-386.
2. Bowden DK, Vickers MA, Higgs DR. 1992. A PCR-based strategy to detect the common severe determinants of a thalassaemia. Br J Haematol 81: 104-108.
3. Chan V, Ghosh A, Chan TK, Wong V, Todd D. 1984. Prenatal diagnosis of homozygous a thalassemia by direct DNA analysis of uncultured amniotic fluid cells. Br Med J 288: 1327-1329.
4. Chan V, Chan TK, Cheng MY, Kan YW, Todd D. 1986. Organization of ζ-α genes in the Chinese. Br J Haematol 64: 97-105.
5. Chan V, Lau K, Yip B, Sin SY, Cheung M-C, Kan YW. 1998. Diagnosis of spinal muscular atrophy from fetal normoblasts in maternal blood. Lancet 352: 1196-1198.
6. Chang M-Y, Soong Y-K, Wong M-L. 1996. Preimplantation diagnosis of α-thalassemia by blastomere aspiration and polymerase chain reaction: preliminary experience. J Formos Med Assoc 95: 203-208.
7. nd International Conference on Thalassemia in China: Thalassemia in Millennium, Nanning, Guangxi, Oct 13-16, 1998, abstract 3-4.
8. Ghosh A, Tang MHY, Lam YH, Fung E, Chan V. 1994. Ultrasound measurement of placental thickness to detect pregnancies affected by homozygous α-thalassaemia-l. Lancet 344: 988-989.
9. Handyside AH, Robinson MD, Simpson RJ, et al. 2004. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 10: 767-772.
10. Hardy K, Martin KL, Leese HJ, Winston RML, Handyside AH. 1990. Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 5: 708-714.
11. Hellani A, Coskun S, Benkhalifa M, et al. 2004. Multiple displacement amplification on single cell and possible PGD applications. Mol Hum Reprod 10: 847-852.
12. International Working Group on Preimplantation Genetics. 2000. Preimplantation diagnosis: an integral part of assisted reproduction. J Assist Reprod Genet 17: 75-79.
13. Ko T-M, Tseng L-H, Hsieh F-J, Hsu P-M, Lee T-Y. 1992. Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction. Hum Genet 88: 245-248.
14. Lam YH, Tang MH, Lee CP, Tse HY. 1999. Prenatal ultrasonographic prediction of homozygous type 1 alpha-thalassemia at 12 to 13 weeks of gestation. Am J Obstet Gynecol 180: 148-150.
15. Li X-H, Zhuang G-L, Zhou C-Q, Cheng G, Shu Y-M, Zeng R-P. 2000. Preimplantation genetic diagnosis of human embryos with α-thalassemia. The First Conference of Reproductive Medicine of Mainland China, Hong Kong and Taiwan. Zhuhai: China; 0-10.
16. Liang ST, Wong VCW, So WWK, Ma HK, Chan V, Todd D. 1985. Homozygous α-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 92: 680-684.
17. Malmgren H, Sahlen S, Inzunza J, et al. 2002. Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations. Mol Hum Reprod 8: 502-510.
18. Monni G, Cau G, Usai V, et al. 2004. Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience. Prenat Diagn 24: 949-954.
19. Ng EHY, Yeung WSB, Lau EYL, So WWK, Ho PC. 2000. High serum oestradiol levels in fresh IVF cycles do not impair implantation and pregnancy rates in subsequent FET cycles. Hum Reprod 15: 250-255.
20. Piyamongkol W, Harper JC, Delhanty JDA, Wells D. 2001. Preimplantation genetic diagnostic protocols for α- and β-thalassaemias using multiplex fluorescent PCR. Prenat Diagn 21: 753-759.
21. Ray PF, Handyside AH. 1996a. Increasing the denaturing temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. Mol Hum Reprod 2: 213-218.
22. Ray PF, Handyside AH. 1996b. PCR from single cells for preimplantation diagnosis. In Molecular Diagnosis of Genetic Diseases, Elles R (ed.). Humana Press: USA; 245-258.
23. Strom CM, Rechitsky S, Verlinsky Y. 1991. Reliability of gender determination using the polymerase chain reaction (PCR) for single cells. J In Vitro Fert Embryo Transf 8: 225-229.
24. Thornhill AR, McGrath JA, Eady RAJ, Braude PR, Handyside AH. 2001. A Comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn 21: 490-497.
25. Thornhill AR, deDie-Smulders CE, Geraedts JP, et al. 2005. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 20: 35-48.
26. Verlinsky Y, Kuliev A. 2004. Present status of preimplantation diagnosis. In International Seminar on Preimplantation HLA Typing and Stem-cell Transplantation. Cyprus. March. 2004. abstract 0-5.
27. Verlinsky Y, Cohen J, Munne S. et al. 2004. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril 82: 292-294.
28. Wells D, Delhanty JDA. 2001. Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol Med 7: 23-30.