Preimplantation Genetic Diagnosis

Pediatric Clinics of North America

Volumn 53, Issue 4, 2006, Pages 559-577

  Bick, David P ^a   Lau, Eduardo C ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; BIOPSY; CHROMOSOME DISORDER; FERTILIZATION IN VITRO; GENETIC ANALYSIS; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; MONOGENIC DISORDER; PATIENT CARE; PREIMPLANTATION GENETIC DIAGNOSIS; REVIEW; TECHNIQUE; TECHNOLOGY; TREATMENT INDICATION;

BIOPSY; FERTILIZATION IN VITRO; GENETIC DISEASES, INBORN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREDICTIVE VALUE OF TESTS; PREIMPLANTATION DIAGNOSIS;

EID: 33746228280     PISSN: 00313955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pcl.2006.05.006     Document Type: Review

References (105)

1. Handyside A.H., Kontogianni E.H., Hardy K., et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344 (1990) 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 11 4 (2005) 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 21 3 (2006) 670-684
4. Verlinksy Y., Rechitsky S., Schoolcraft W., et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 285 24 (2001) 3130-3133
5. Thornhill A.R., deDie-Smulders C.E., Geraedts J.P., et al. ESHRE PGD consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 20 1 (2005) 35-48
6. Schenker J.G. Clinical aspects of ovarian hyperstimulation syndrome. Eur J Obstet Gynecol Reprod Biol 85 1 (1999) 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 7 2 (2004) 127-133
8. Shenfield F., Pennings G., Devroey P., et al., for the ESHRE Ethics Task Force. Taskforce 5: preimplantation genetic diagnosis. Hum Reprod 18 3 (2003) 649-651
9. Rebar R.W., and DeCherney A.H. Assisted reproductive technology in the United States. N Engl J Med 350 16 (2004) 1603-1604
10. Katayama A.C.U.S. ART practitioners soon to begin their forced march into a regulated future. J Assist Reprod Genet 20 7 (2003) 265-270
11. Papanikolaou E.G., Kolibianakis E., and Devroey P. Emerging drugs in assisted reproduction. Expert Opin Emerg Drugs 10 2 (2005) 425-440
12. Lass A. UK Timing of hCG Group. Monitoring of in vitro fertilization-embryo transfer cycles by ultrasound versus by ultrasound and hormonal levels: a prospective, multicenter, randomized study. Fertil Steril 80 1 (2003) 80-85
13. Ludwig M., Doody K.J., and Doody K.M. Use of recombinant human chorionic gonadotropin in ovulation induction. Fertil Steril 79 (2003) 1051-1059
14. Kwan I., Bhattacharya S., Knox F., et al. Conscious sedation and analgesia for oocyte retrieval during in vitro fertilization procedures. Cochrane Database Syst Rev 3 (2005) CD004829
15. Speroff L., and Fritz M. Fertilization. Clinical gynecologic endocrinology and infertility. 7th edition (2005), Lippincott Williams & Wilkins, Philadelphia 1215-1274
16. Suh R.S., Zhu X., Phadke N., et al. IVF within microfluidic channels requires lower total numbers and lower concentrations of sperm. Hum Reprod 21 (2006) 477-483
17. Bungum M., Bungum L., and Humaidan P. A prospective study, using sibling oocytes, examining the effect of 30 seconds versus 90 minutes gamete co-incubation in IVF. Hum Reprod 21 2 (2006) 518-523
18. Yanagimachi R. Intracytoplasmic injection of spermatozoa and spermatogenic cells: its biology and applications in humans and animals. Reprod Biomed Online 10 2 (2005) 247-288
19. De Vos A., and Van Steirteghem A. Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat Diagn 21 9 (2001) 767-780
20. Kuliev A., and Verlinsky Y. Place of preimplantation diagnosis in genetic practice. Am J Med Genet 134A (2005) 105-110
21. De Boer K., MacArthur S., Murray C., et al. First live birth following blastocyst biopsy and PGD analysis. Reprod Biomed Online 4 (2002) 35
22. 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 20 7 (2005) 1855-1859
23. McArthur S.J., Leigh D., Marshall J.T., et al. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 84 6 (2005) 1628-1636
24. Ruangvutilert P., Delhanty J.D., Rodeck C.H., et al. Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast cultures. Prenat Diagn 20 (2000) 159-162
25. 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 miscarriages. Fertil Steril 84 2 (2005) 331-335
26. Kearns W.G., Pen R., Graham J., et al. Preimplantation genetic diagnosis and screening. Semin Reprod Med 23 4 (2005) 336-347
27. Baart E.B., Martini E., van den Berg I., et al. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 21 1 (2006) 223-233
28. Rechitsky S., Verlinsky O., Amet T., et al. Reliability of preimplantation diagnosis for single gene disorders. Mol Cell Endocrinol 183 (2001) S65-S68
29. Hussey N.D., Davis T., Hall J.R., et al. Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci. Mol Hum Reprod 8 (2002) 1136-1143
30. Fiorentino F., Kahraman S., Karadayi H., et al. Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching. Eur J Hum Genet 13 8 (2005) 953-958
31. Handyside A.H., Robinson M.D., Simpson R.J., et al. 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 10 (2004) 767-772
32. Lewis C.M., Pinel T., Whittakeer J.C., et al. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum Reprod 16 1 (2001) 43-50
33. Fiorentino F., Magli M.C., Podini D., et al. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 9 7 (2003) 399-410
34. Bermudez M.G., Piyamongkol W., Tomaz S., et al. Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis. Prenat Diagn 23 (2003) 669-677
35. Burlet P., Frydman N., Gigarel N., et al. Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil Steril 84 3 (2005) 734-739
36. Loeys B., Nuytinck L., Van Acker P., et al. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Prenat Diagn 22 (2002) 22-28
37. Hook E.B., and 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 30 (1978) 19-27
38. Hook E.B., Cross P.K., and Schreinemachers D.M. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 249 (1983) 2034-2038
39. Munne S., Alikani M., Tomkin G., et al. Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril 64 (1995) 382-391
40. Harper J.C., 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 21 1 (2006) 3-21
41. Morris J.K., Mutton D.E., and Alberman E. Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register. Prenat Diagn 25 12 (2005) 1120-1128
42. Rubio C., Pehlivan T., Rodrigo L., et al. Embryo aneuploidy screening for unexplained recurrent miscarriage: a minireview. Am J Reprod Immunol 53 4 (2005) 159-165
43. Schlegel P.N. Male infertility: evaluation and sperm retrieval. Clin Obstet Gynecol 49 1 (2006) 55-72
44. Gianaroli L., Magli M.C., Cavallini G., et al. Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod 20 8 (2005) 2140-2152
45. Foresta C., Garolla A., Bartoloni L., et al. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 90 1 (2005) 152-156
46. Papanikolaou E.G., Vernaeve V., Kolibianakis E., et al. Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment?. Hum Reprod 20 10 (2005) 2899-2903
47. Stern C., Pertile M., Norris H., et al. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod 14 (1999) 2097-2101
48. Verlinsky Y., Tur-Kaspa I., Cieslak J., et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 11 2 (2005) 219-225
49. Fallon L., Harton G.L., Sisson M.E., et al. Preimplantation genetic diagnosis for spinal muscular atrophy type I. Neurology 53 5 (1999) 1087-1090
50. Goosens V., Sermon K., Lissens W., et al. Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the deltaF508 mutation. Mol Hum Reprod 9 9 (2003) 559-567
51. Verlinsky Y., Rechitsky S., Verlinsky O., et al. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online 4 3 (2002) 218-222
52. Vrettou C., Traeger-Synodinos J., Tzetis M., et al. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 23 5 (2004) 513-521
53. Sermon K., Seneca S., De Rycke M., et al. PGD in the lab for triplet repeat diseases-myotonic dystrophy, Huntington's disease and fragile-X syndrome. Mol Cell Endocrinol 183 (2001) S77-S85
54. Drusedau M., Dreesen J.C.F.M., de Die-Smulders C., et al. Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)n repeat detection. Mol Hum Reprod 10 1 (2004) 71-75
55. Xu K., Rosenwaks Z., Beaverson K., et al. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn. Am J Ophthalmol 137 (2004) 18-23
56. Girardet A., Hamamah S., Dechaud H., et al. Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy. Mol Hum Reprod 9 7 (2003) 421-427
57. Levinson G, Maddalena A, Howard-Peebles PN, et al. Preimplantation genetic screening: an option for families at risk for transmission of the fragile X chromosome. In: Hagerman RJ, McKenzie P, editors. 1992 International Fragile X Conference Proceedings. Dillon (CO): Spectra Publishing Co; 1992. p. 383.
58. Schulman J.D., and Karabinus D.S. Scientific aspects of preconception gender selection. Reprod Biomed Online 10 Suppl 1 (2005) 111-115
59. Fugger E.F., Black S.H., Keyvanfar K., et al. Births of normal daughters after MicroSort sperm separation and intrauterine insemination, in-vitro fertilization, or intracytoplasmic sperm injection. Hum Reprod 13 9 (1998) 2367-2370
60. Christianson A., and Modell B. Medical genetics in developing countries. Annu Rev Genomics Hum Genet 5 (2004) 219-265
61. Wagner J.E. Practical and ethical issues with genetic screening. Hematology. American Society of Hematology Educational Program (2005), American Society of Hematology, Washington (DC) 498-502
62. Harris M., Winship I., and Spriggs M. Controversies and ethical issues in cancer-genetics clinics. Lancet Oncol 6 (2005) 301-310
63. Ao A., Wells D., Handyside A.H., et al. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 15 3 (1998) 140-144
64. De Rycke M., Georgiou I., Sermon K., et al. PGD for autosomal dominant polycystic kidney disease type 1. Mol Hum Reprod 11 1 (2005) 65-71
65. Verlinsky Y., Rechitsky S., Verlinsky O., et al. Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA 287 8 (2002) 1018-1040
66. Almeida V.M., Costa P.M., Moreira P., et al. Birth of two healthy females after preimplantation genetic diagnosis for familial amyloid polyneuropathy. Reprod Biomed Online 10 5 (2005) 641-644
67. Moutou C., Gardes N., and Viville S. New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications. Eur J Hum Genet 12 12 (2004) 1007-1014
68. Schulman J.D., Black S.H., Handyside A., et al. Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet 49 2 (1996) 57-58
69. Stern H.J., Harton G.L., Sisson M.E., et al. Non-disclosing preimplantation genetic diagnosis for Huntington disease. Prenat Diagn 22 6 (2002) 503-507
70. Spriggs M. Commodification of children again and non-disclosure preimplantation genetic diagnosis for Huntington's disease. J Med Ethics 30 6 (2004) 538
71. Sermon K., De Rijcke M., Lissens W., et al. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing. Eur J Hum Genet 10 10 (2002) 591-598
72. Braude P.R., De Wert G.M., Evers-Kiebooms G., et al. Non-disclosure preimplantation genetic diagnosis for Huntington's disease: practical and ethical dilemmas. Prenat Diagn 18 3 (1998) 1422-1426
73. Seeho S.K.M., Burton G., Leigh D., et al. The role of preimplantation genetic diagnosis in the management of severe rhesus alloimmunization: first unaffected pregnancy: case report. Hum Reprod 20 3 (2005) 697-701
74. Grewal S.S., Hahn J.P., MacMillan M.L., et al. Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood 103 3 (2004) 1147-1151
75. Bielorai B., Hughes M.R., Auerbach A.D., et al. Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor. Am J Hematol 77 (2004) 397-399
76. Van de Velde H., Georgiou I., De Rycke M., et al. Novel universal approach for preimplantation genetic diagnosis of beta-thalassemia in combination with HLA matching of embryos. Hum Reprod 19 3 (2004) 700-708
77. 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 10 6 (2004) 445-460
78. Verlinsky Y., Rechitsky S., Sharapova T., et al. Preimplantation HLA testing. JAMA 291 (2004) 2079-2085
79. Rechitsky S., Kuliev A., Tur-Kaspa I., et al. Preimplantation genetic diagnosis with HLA matching. Reprod Biomed Online 9 2 (2004) 210-221
80. Kuliev A., and Verlinsky Y. Preimplantation HLA typing and stem cell transplantation: report of international meeting, Cyprus, 27-28, March, 2004. Reprod Biomed Online 9 2 (2004) 205-209
81. Qureshi N., Foote D., Walters M.C., et al. Outcomes of preimplantation genetic diagnosis therapy in treatment of β-thalassemia: a retrospective analysis. Ann NY Acad Sci 1054 (2005) 500-503
82. Wilton L., Williamson R., McBain J., et al. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 345 21 (2001) 1537-1541
83. Wilton L., Voullaire L., Sargeant P., et al. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril 80 4 (2003) 860-868
84. Jericho H., Wilton L., Gook D., et al. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos. Hum Reprod 18 (2003) 568-571
85. Lasken R.S., and Egholm M. Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens. Trends Biotechnol 21 (2003) 531-535
86. Lu Y., Gioia-Patricola L., Gomez J.V., et al. Use of whole genome amplification to rescue DNA from plasma samples. Biotechniques 39 4 (2005) 511-515
87. Hellani A., Coskun S., Benkhalifa M., et al. Multiple displacement amplification on single cell and possible PGD applications. Hum Reprod 10 11 (2004) 847-852
88. Hellani A., Coskun S., Tbakhi A., et al. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online 10 3 (2005) 376-380
89. Lovmar L., Fredriksson M., Liljedahl U., et al. Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res 31 (2003) e129
90. Zhang L., Cui X.F., Schmitt K., et al. Whole genome amplification from a single cell: implication for genetic analysis. Proc Natl Acad Sci U S A 89 (1992) 5847-5851
91. Montgomery G.W., Campbell M.J., Dickson P., et al. Estimation of the rate of SNP genotyping errors from DNA extracted from different tissues. Twin Res Hum Genet 8 4 (2005) 346-352
92. Sohni Y.R., Burke J.P., Dyck P.J., et al. Microfluidic chip-based method for genotyping microsatellites, VNTRs and insertion/deletion polymorphisms. Clin Biochem 36 1 (2003) 35-40
93. Qin J., Leung F.C., Fung Y., et al. Rapid authentication of ginseng species using microchip electrophoresis with laser-induced fluorescence detection. Anal Bioanal Chem 381 (2005) 812-819
94. Hashimoto M., Barany F., and Soper S.A. Polymerase chain reaction/ligase detection reaction/hybridization assays using flow-through microfluidic devices for the detection of low-abundant DNA point mutations. Biosens Bioelectron 21 10 (2006) 1915-1923
95. Okada Y., Nakamura K., Wada M., et al. Genotyping of thiopurine methyltransferase using pyrosequencing. Biol Pharm Bull 28 4 (2005) 677-681
96. Soderback E., Zackrisson A.-L., Lindblom B., et al. Determination of CYP2D6 gene copy number by pyrosequencing. Clin Chem 51 3 (2005) 522-531
97. Kruckeberg K.E., and Thibodeau S.N. Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. Clin Chem 50 3 (2004) 522-529
98. Bao Y.P., Huber M., Wei T.-F., et al. SNP identification in unamplified human genomic DNA with gold nanoparticle probes. Nucleic Acids Res 33 2 (2005) e15
99. Huber M., Wei T.F., Muller U.R., et al. Gold nanoparticle probe-based gene expression analysis with unamplified total human RNA. Nucleic Acids Res 32 18 (2004) e137
100. Wells D., Bermudez M.G., Steuerwald N., et al. Association of abnormal morphology and altered gene expression in human preimplantation embryos. Fertil Steril 84 2 (2005) 343-355
101. Hughes T.R., Roberts C.J., Dai H., et al. Widespread aneuploidy revealed by DNA microarray expression profiling. Nat Genet 25 7 (2000) 333-337
102. Neely L.A., Patel S., Garver J., et al. A single-molecule method for the quantitation of microRNA gene expression. Nat Methods 3 1 (2006) 41-46
103. Van de Velde H., De Vos A., Sermon K., et al. Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat Diagn 20 (2000) 1030-1037
104. Assisted reproductive technology success rates: national summary and fertility clinic reports. US Department of Health and Human Services, Centers for Disease Control and Prevention, Coordinating Center for Health Promotion, National Center for Chronic Disease Prevention and Health Promotion, Division of Reproductive Health. Atlanta (GA); 2003.
105. Bonduelle M., Wennerholm U.B., Loft A., et al. A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception. Hum Reprod 20 (2005) 413-419