Preimplantation genetic diagnosis: Technology and clinical applications

Wisconsin Medical Journal

Volumn 106, Issue 3, 2007, Pages 145-151

  Swanson, Amy ^a,b   Strawn, Estil ^a   Lau, Eduardo ^a   Bick, David ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b FROEDTERT MEMORIAL LUTHERAN HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; BECKER MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPING; METHODOLOGY; OUTCOME ASSESSMENT; PATIENT CARE; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; REVIEW; SPINAL MUSCULAR ATROPHY; SPONTANEOUS ABORTION; VIGNETTE;

BIOPSY; HUMANS; PREIMPLANTATION DIAGNOSIS; REPRODUCTIVE TECHNIQUES, ASSISTED; WISCONSIN;

EID: 34250029468     PISSN: 10981861     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (49)

1. Handyside AH, Kontogianni EH, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768-770.
2. Rubio C, Rodrigo L, Perez-Cano I, et al. FISH screening of aneuploidies in preimplantation embryos to improve IVF outcome. Reprod Biomed Online. 2005;11(4):497-506.
3. 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(3):670-684.
4. Verlinksy Y, Rechitsky S, Schoolcraft W, et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285(24):3130-3133.
5. Kuliev A, Verlinsky Y. Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice. Curr Opin Obstet Gynecol. 2005;17(2):179-183.
6. Schenker JG. Clinical aspects of ovarian hyperstimulation syndrome. Eur J Obstet Gynecol Reprod Biol. 1999;85(1):13-20.
7. El-Shawarby S, Margara R, Trew G, et al. A review of complications following transvaginal oocyte retrieval for in-vitro fertilization. Hum Fertil. 2004;7(2):127-133.
8. Shenfield F, Pennings G, Devroey P, et al, for the ESHRE Ethics Task Force. Taskforce 5: preimplantation genetic diagnosis. Hum Reprod. 2003;18(3):649-651.
9. Rebar RW, DeCherney AH. Assisted reproductive technology in the United States. N Engl J Med. 2004;350(16):1603-1604.
10. Katayama AC. US ART practitioners soon to begin their forced march into a regulated future. J Assist Reprod Genet. 2003;20(7):265-270.
11. Papanikolaou EG, Kolibianakis E, Devroey P. Emerging drugs in assisted reproduction. Expert Opin Emerg Drugs. 2005;10(2):425-440.
12. Speroff L, Fritz M. Fertilization. In: Clinical Gynecologic Endocrinology & Infertility. 7th ed. Philadelphia: Lippincott Williams & Wilkens; 2005: 1215-1274.
13. Yanagimachi R. Intracytoplasmic injection of spermatozoa and spermatogenic cells: its biology and applications in humans and animals. Reprod Biomed Online. 2005;10(2):247-288.
14. De Vos A, Van Steirteghem A. Aspects of biopsy procedure prior to preimplantation genetic diagnosis. Prenat Diagn. 2001;21(9):767-780.
15. Kuliev A, Verlinsky Y. Place of Preimplantation Genetic Diagnosis in Genetic Practice. Am J Med Genet. 2005;134A:105-110.
16. De Boer K, MacArthur S, Murray C, Jansen R. First live birth following blastocyst biopsy and PGD analysis. Reprod Biomed Online. 2002;4:35.
17. Kokkali G, Vrettou C, Traeger-Synodinos J, et al. Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassemia major: case report. Hum Reprod. 2005;20(7):1855-1859.
18. Thornhill AR, deDie-Smulders CE, Geraedts JP, et al. ESHRE PGD Consortium 'best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).' Hum Reprod. 2005;20(1):35-48.
19. Ruangvutilert P, Delhanty JD, Rodeck CH, Harper JC. Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast cultures. Prenat Diagn. 2000;20(2):159-162.
20. Munne S, Chen S, Fischer J, et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriage. Fertil Steril. 2005;84(2):331-335.
21. Kearns WG, Pen R, Graham J, et al. Preimplantation genetic diagnosis and screening. Semin Repro Med. 2005;23(4):336-347.
22. Munne S. Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online. 2006;12(2):234-253.
23. Rechitsky S, Verlinsky O, Amet T, et al. Reliability of preimplantation diagnosis for single gene disorders. Mol Cell Endocrinol. 2001;183:S65-68.
24. Hussey ND, Davis T, Hall JR, et al. Preimplantation genetic diagnosis for beta-thalassemia using sequencing of single cell PCR products to detect mutations and polymorphic loci. Mol Hum Reprod. 2002;8:1136-1143.
25. Hook EB, Lindsjo A. Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York State study. Am J Hum Genet. 1978;30:19-27.
26. Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA. 1983;249:2034-2038.
27. Munne S, Alikani M, Tomkin G, et al. Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril. 1995;64:382-391.
28. Harper JC, Boelaert K, Geraedts J, et al. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod. 2006;21(1):3-21.
29. Morris JK, Mutton DE, Alberman E. Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register. Prenat Diagn. 2005;25(12):1120-1128.
30. Lee RM, Silver RM. Recurrent pregnancy loss: summary and clinical recommendations. Semin Reprod Med. 2000;18(4):433-440.
31. Findikli N. Embryo aneuploidy screening for repeated implantation failure and unexplained recurrent miscarriage. Reprod Biomed Online. 2006;13(1):38-46.
32. Rubio C, Pehlivan T, Rodrigo L, Simon C, Remohi J, Pellicer A. Embryo aneuploidy screening for unexplained recurrent miscarriage: a minireview. Am J Reprod Immunol. 2005;53(4):159-165.
33. Tarranissi M, El-Toukhy T, Verlinsky Y. Influence of maternal age on the outcome of PGD for aneuploidy screening in patients with recurrent implantation failure. Reprod Biomed Online. 2005;10:628-32.
34. Schlegel PN. Male infertility: evaluation and sperm retrieval. Clin Obstet Gynecol. 2006;49(1):55-72.
35. Gianaroli L, Magli MC, Cavallini G, et al. Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod. 2005;20(8):2140-2152.
36. Kahraman S, Findikli N, Biricik A, et al. Preliminary FISH studies on spermatozoa and embryos in patients with variable degrees of teratozoospermia and a history of poor prognosis. Reprod Biomed Online. 2006;12(6):752-761.
37. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2005;90(1):152-156.
38. Papanikolaou EG, Vernaeve V, Kolibianakis E, et al. Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? Hum Reprod. 2005;20(10):2899-2903.
39. Stern C, Pertile M, Norris H, Hale L, Baker HWCG. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14:2097-2101.
40. Verlinsky Y, Tur-Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online. 2005;11(2):219-225.
41. Fallon L, Harton GL, Sisson ME, et al. Preimplantation genetic diagnosis for spinal muscular atrophy type I. Neurology. 1999;53(5):1087-1090.
42. 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(3):670-684.
43. Schulman JD, Karabinus DS. Scientific aspects of preconception gender selection. Reprod Biomed Online. 2005;10(Suppl 1):111-115.
44. Grewal SS, Hahn JP, MacMillan ML, Ramsay NKC, Wagner JE. Successful hematopoietic stem cell transplantation for Fanconi anemia from an uaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood. 2004;103(3):1147-1151.
45. Kuliev A, Verlinsky Y. Preimplantation HLA typing and stem cell transplantation: report of international meeting, Cyprus, 27-28, March, 2004. Reprod Biomed Online. 2004;9(2):205.
46. Gerris J. Single embryo transfer and IVF/ICSI outcome: a balanced appraisal. Human Reprod Update. 2005;11(2):105-121.
47. Donoso P, Platteau P, Papanikolaou EG, Staessen C, Van Steirteghem A, Devroey P. Does PGD for aneuploidy screening change the selection of embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men? Hum Reprod. 2006;21(9):2390-2395.
48. Harper J, Sermon K, et al. ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod. 2007;22(2):323-336.
49. Coskun S, Alsmadi O. Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn. 2007;27(4):297-302.