Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing

Fetal Diagnosis and Therapy

Volumn 24, Issue 4, 2009, Pages 334-339

  Pangalos, Constantinos G ^a   Hagnefelt, Birgitta ^a   Kokkali, Georgia ^b   Pantos, Konstantinos ^b   Konialis, Christopher P ^a  

^a Diagnostic Genetic Center   (Greece)

^b Genesis Athens Hospital   (Greece)

Author keywords

Chronic granulomatous disease; Preimplantation genetic diagnosis; Preimplantation HLA typing; Transplantation

Indexed keywords

AMELOGENIN; ANTIBIOTIC AGENT; INTERFERON; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ARTICLE; BIOPSY; BLASTOCYST; BLOOD DONOR; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CORD BLOOD STEM CELL TRANSPLANTATION; DELIVERY; FETUS; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; HLA MATCHING; HLA SYSTEM; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT TANDEM REPEAT;

ADULT; BLASTOCYST; CORD BLOOD STEM CELL TRANSPLANTATION; FEASIBILITY STUDIES; FEMALE; FERTILIZATION IN VITRO; GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; HISTOCOMPATIBILITY TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; PREIMPLANTATION DIAGNOSIS; SIBLINGS; TISSUE DONORS;

EID: 54749128671     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000160665     Document Type: Article

References (28)

1. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A: Preimplantation genetic diagnosis for Fanconi anemia combined with HLA-matching. J Am Med Assoc 2001;285:130-133.
2. Fiorentino F, Biricik A, Karadayi H, et al: Development and clinical application of a strategy for preimplantation genetic diagnosis of single gene disorders combined with HLA matching. Mol Hum Reprod 2004;10:445-460.
3. Verlinsky Y, Rechitsky S, Shaparova T, Morris R, Taranissi M, Kuliev A: Preimplantation HLA testing. J Am Med Assoc 2004;291:2079-2085.
4. Fiorentino F, Kahraman S, Karadayi H, et al: Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching. Eur J Hum Genet 2005;13:953-958.
5. Fiorentino F, Biricik A, Nuccitelli A, et al: Strategies and clinical outcome of 250 cycles of preimplantation genetic diagnosis for single gene disorders. Hum Reprod 2006;21:670-684.
6. Van de Velde H, Georgiou I, De Rycke M, et al: Novel universal approach for preimplantation genetic diagnosis of β-thalassaemia in combination with HLA matching of embryos. Hum Reprod 2004;19:700-708.
7. Petersdorf E, Gooley T, Anasetti C, et al: Optimizing outcome after unrelated marrow transplantation by comprehensive matching of HLA class I and II alleles in the donor and recipient. Blood 1998;92:3515-3520.
8. Sasazuki T, Juji T, Morishima Y, et al: Effect of matching of class I HLA alleles on clinical outcome after transplantation of hematopoietic stem cells from an unrelated donor. N Engl J Med 1998;339:1177-1185.
9. Bielorai B, Hughes M, Auerbach A, et al: Successful umbilical cord blood transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood 2004;103:1147-1151.
10. Pennings G, Scots R, Liebaers I: Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a sibling. Hum Reprod 2002;17:534-538.
11. Robertson J: Extending preimplantation genetic diagnosis: the ethical debate: ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 2003;18:465-471.
12. Fost N: Conception for donation. J Am Med Assoc 2004;291:2125-2126.
13. de Wert G: Preimplantation genetic diagnosis: the ethics of intermediate cases. Hum Reprod 2005;20:3261-3266.
14. Johnston RB Jr: Clinical aspects of chronic granulomatous disease. Hematology 2001;8:17-22.
15. Ho C, Vowels M, Lockwood L, Ziegler J: Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease. Bone Marrow Transplant 1996;18:213-215.
16. Horwitz M, Barrett A, Brown M, Carter C, et al: Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. New Engl J Med 2001;344:881-888.
17. Foissac A, Salhi M, Cambon-Thomsen A: Microsatellites in the HLA region: 1999 update. Tissue Antigens 2000;55:477-509.
18. Cullen M, Malasky M, Harding A, Carrington M: High-density map of short tandem repeats across the human major histocompatibility complex. Immunogenetics 2003;54:900-910.
19. Pantos K, Meimeth-Damianaki T, Vaxevanoglou T, Kapetanakis E: Prospective study of a modified gonadotropin-releasing hormone agonist long protocol in an in vitro fertilization program. Fertil Steril 1994;61:709-713.
20. Yanagimachi R: Intracytoplasmic injection of spermatozoa and spermatogenic cells: its biology and applications in humans and animals. Reprod Biomed Online 2005;10:247-288.
21. Jones GM, Trounson AO, Gardner DK, Kausche A, Lolatgis N, Wood C: Evolution of a culture protocol for successful blastocyst development and pregnancy. Hum Reprod 1998;13:169-177.
22. Kokkali G, Vrettou C, Traeger-Synodinos J, Jones GM, Cram DS, Stavrou D, Trounson AO, Kanavakis E, Pantos K: Birth of a healthy infant following trophectoderm biopsy from blastocysts for preimplantation diagnosis of β-thalassaemia major. Hum Reprod 2005;20:1855-1859.
23. Kokkali G, Traeger-Synodinos J, Vrettou C, Stavrou D, Jones GM, Cram DS, Makrakis E, Trounson AO, Kanavakis E, Pantos K: Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation diagnosis of β-thalassaemia: a pilot study. Hum Reprod 2007;22:1443-1449.
24. Jones GM, Trounson AO: Blastocyst stage transfer: pitfalls and benefits. The benefits of extended culture. Hum Reprod 1999;14:1405-1408.
25. de Boer K, Catt J, Jansen R, Leigh D, McArthur S: Moving to blastocyst biopsy for PGD and single embryo transfer at Sydney IVF. Fertil Steril 2004;82:295-298.
26. McArthur S, Leigh D, Marshall J, de Boer K, Jansen R: Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing in human blastocysts. Fertil Steril 2005;84:1628-1636.
27. Kearney W, Caplan A: Parity for donation of bone marrow;in Blank RH, Bonnicksen AL (eds): Emerging Issues in Biomedical Policy. An Annual Review. Genetic and Reproductive Technologies. New York, Columbia University Press, 1992, vol 1, pp 262-285.
28. Czeizel AE, Gasztonyi Z, Kuliev A: Periconceptional clinics: a medical health care infrastructure of new genetics. Fetal Diag Ther 2005;20:515-518.