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Review

Expanding indications for preimplantation genetic diagnosis

Pages 599-607 | Published online: 10 Jan 2014

References

  • Handyside AH, Kontogiani EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature344, 768–770 (1990).
  • Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom CM. Analysis of the first polar body: preconception genetic diagnosis. Hum. Reprod.5, 826–829 (1990).
  • Preimplantation Genetic Diagnosis International Society (PGDIS). 10th International Congress on Preimplantation Genetic Diagnosis. Reprod. BioMed. Online20, S1–S42 (2010).
  • Harper J, Coonen E, De Rycke M et al. ESHRE Preimplantation Genetic Diagnosis (PGD) consortium data collecttion X: cycles from January to December 2007 with pregnancy follow up to October 2008. Hum. Reprod.25, 2685–2797 (2010).
  • Verlinsky Y, Kuliev A. Practical Preimplantation Genetic Diagnosis. Springer, Berlin, Germany, 204 (2006).
  • Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: program requirements and laboratory quality assurance. Reprod. BioMed. Online16, 134–147 (2008).
  • ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium. Best practice guidelines for preimplantation genetic diagnosis/screening (PGD/PGS). Hum. Reprod.26, 14–46 (2011).
  • Munne S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil. Steril.92, 408–430 (2010).
  • Treff NT, Levy B, Su J, Northrop LE, Tao X, Scott RT. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol. Hum. Reprod.16, 583–589 (2010).
  • Johnson DS, Gemelos G, Ryan A et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum. Reprod.25, 1066–1075 (2010).
  • Treff NT, Sue G, Tao X, Levy B, Scott RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil. Steril.94, 2017–2021 (2010).
  • Gutierrez-Mateo C, Colls P, Sanchez-Garcia et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil. Steril.95, 953–958 (2011).
  • Fragouli E, Alfarawati S, Daphnis DD et al. Cytogenetic analysis of human blastocyst with the use of FISH, CGH, and aCGH: scientific data and technical evaluation. Hum. Reprod.26, 480–490 (2011).
  • Kuliev A, Zlatopolsky Z, Kirillova I, Spivakova J, Cieslak-Janzen G. Meiosis errors in over 20,000 oocytes studied in the practice of preimplantation aneuploidy testing. Reprod. BioMed. Online22, 2–8 (2011).
  • Gabriel AS, Thornhill AR, Ottolini CS et al. Array comparative genomic hybridization on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans. J. Med. Genet.7, 433–437 (2011).
  • Geraedts J, Collins J, Gianaroli L et al. What next for preimplantation genetic screening? A polar body approach. Hum. Reprod.25, 575–577 (2010).
  • Geraedts J, Montag M, Magli C et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum. Reprod. DOI: 10.1093/humrep/der294 (2011) (Epub ahead of print).
  • Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe MG, Wells D. Clinical application of comprehensive chromosomal screening in the blastocyst stage. Fertil. Steril.94, 1700–1706 (2010).
  • Scott RT, Tao X, Ferry KM, Treff NR. A prospective randomized controlled trial demonstrating significantly increased clinical pregnancy rates following 24 chromosome aneuploidy screening: biopsy on day 5 with fresh transfer. Fertil. Steril.94(4), S2 (2010).
  • Brezina PR, Benner A, Rechitsky S et al. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil. Steril.95, 1786 (2011).
  • Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott RT. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil. Steril.95(5), 1606–1612.e1–e2 (2011).
  • Kuliev A, Rechitsky S, Laziuk K, Verlinsky O, Tur-Kaspa I, Verlinsky Y. Pre-embryonic diagnosis for Sandhoff disease. Reprod. BioMed. Online12, 328–333 (2006).
  • Kuliev A, Rechitsky S. Polar body based preimplantation genetic diagnosis for Mendelian disorders. Mol. Hum. Reprod.17, 275–285 (2011).
  • Rechitsky S, Kuliev A. Novel indications for preimplantation genetic diagnosis. Reprod. BioMed. Online20, S1–S2 (2010).
  • Rechitsky S, Pomerantseva K, Pakhalchuk T, Polling D, Verlinsky O, Kuliev A. First systematic experience of preimplantation genetic diagnosis for de novo mutations. Reprod. BioMed. Online22, 350–361 (2011).
  • Verlinsky Y, Kuliev A. Preimplantation diagnosis of genetic diseases: a new technique for assisted reproduction. Wiley-Liss, NY, USA, 155 (1993).
  • Liebaers I, Desmyttere S, Verpoest W et al. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum. Reprod.25, 275–282 (2010).
  • Simpson JL. Children born after preimplantation genetic diagnosis show no increase in congenital anomalies. Hum. Reprod.25, 6–8 (2010).
  • Goossens V, Harton G, Moutou C et al. ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. European Society of Human Reproduction and Embryology PGD Consortium. Hum. Reprod.23, 264–265 (2008).
  • Wilton L, Thornhill A, Traeger-Synodinos J, Sermon K, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum. Reprod.24, 1221–1228 (2009).
  • Renwick P, Trussler J, Braude P, Ogilvie CM. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod. BioMed. Online20, 470–476 (2010).
  • Altarescu G, Brooks B, Kaplan Y et al. Single sperm analysis for haplotype construction of de novo paternal mutations: application to PGD for neufibromatosis type 1. Hum. Reprod.21, 2047–2051 (2006).
  • Moutou C, Gardes N, Nicod JC, Viville S Strategies and outcomes of PGD of familial adenomatous polyposis. Mol. Hum. Reprod.13, 95–101 (2007).
  • Altarescu G, Eldar-Geva T, Varshower I et al. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis of female carriers of de novo paternal mutations. Hum. Reprod.24, 3225–3229 (2009).
  • Dhanjal S, Kakourou G, Mammas T et al. Preimplantation genetic diagnosis for retinoblastoma predisposition. Br.J. Ophtalmol.91, 1090–1091 (2007).
  • Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE. Gonadal mosaicism for incontinentia pigmenti in a healthy male. J. Med. Genet.32, 887–890 (1995).
  • Verhoef S, Bakker L, Tempelaars AMP et al. High rate of mosaicism in tuberous sclerosis complex. Am. J. Hum. Genet.64, 1632–1637 (1999).
  • Consoli C, Moss C, Green S, Balderson D, Cooper D, Upadhyaya M. Gonosomal mosaicism for a nonsence mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J. Invest. Dermatol.125, 463–466 (2005).
  • Carlson EA, Desnick RJ, Opitz JM. Mutational mosaicism and genetic counseling in retinoblastoma. Am. J. Med. Genet.4, 365–381 (2005).
  • Shwab AL, Tuohy TMF, Condie M, Neklason DW, Burt RW. Gonadal mosaicism and familial adenomatous polyposis. Familial Cancer7, 173–177 (2008).
  • Verlinsky Y, Rechitsky S, Verlinsky O et al. Preimplantation diagnosis for p53 tumor-suppressor gene mutations. Reprod. BioMed. Online2, 102–105 (2001).
  • Simpson JL. Celebrating preimplantation genetic diagnosis of p53 mutations in Li–Fraumeni syndrome. Reprod. BioMed. Online3, 2–3 (2001).
  • Cram D. Preimplantation genetic diagnosis for familial cancer. Reprod. BioMed. Online3, 3–4 (2001).
  • Rechitsky S, Verlinsky O, Chistokhina A et al. Preimplantation genetic diagnosis for cancer predisposition. Reprod. BioMed. Online4, 148–155 (2002).
  • Jasper MJ, Liebelt J, Hussey ND. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat. Diagn.27, 447–456 (2007).
  • Sagi M, Weinberg N, Eilat A et al. Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenat. Diagn.28, 292–298 (2008).
  • Moutou C, Gardes N, Nicod JC, Viville S. Preimplantation genetic diagnosis for BRCA1/2 – a novel clinical experience. Eur. J. Obstet. Gynecol. Reprod. Biol.45, 9–13 (2009).
  • Vadaparampil ST, Quinn GP, Knapp C, Malo TL, Friedman S. Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer. Genet. Med.11, 757–765 (2009).
  • Quinn GP, Vadaparampil ST, King LM, Miree CA, Friedman S. Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer. Familial Cancer8, 441–449 (2009).
  • Verlinsky Y, Rechitsky S, Verlinsky O et al. Preimplantation diagnosis for early onset Alzheimer disease caused by V717L mutation. JAMA287, 1018–1021 (2002).
  • Verlinsky Y, Rechitsky S, Verlinsky O et al. Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. Nat. Engl. J. Med.348, 1449–1454 (2003).
  • Abou-Sleiman PM, Apessos A, Harper JC, Serhal P, Delhanty JDA. Pregnancy following preimplantation genetic diagnosis for Crouson syndrome. Mol. Hum. Reprod.8, 304–309 (2002).
  • He J, McDermont DA, Song Y, Gilbert F, Kligman I, Basson C. Preimplantation genetic diagnosis of human congenital heart disease and Holt–Oram syndrome. AJMG126A, 93–98 (2004).
  • Verlinsky Y, Rechitsky S, Schoolcraft W, Kuliev A. Preimplantation diagnosis for homeobox gene HLXB9 mutation causing currarino syndrome. Am. J. Med. Genet.134A, 103–104 (2005).
  • Lucarelli G, Andreani M, Angelucci E. The cure of thalassemia by bone marrow transplantation. Blood16, 81–85 (2002).
  • Kuliev A, Verlinsky Y. Peimplantation HLA typing and stem cell transplantation. Reprod. BioMed. Online9, 205–209 (2004).
  • Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA285, 3130–3133 (2001).
  • Gluckman E, Broxmeyer HA, Auerbach AD et al. Hematopoietic reconstitution in a patient with Fanconi’s anemia by means of umbilical-cord blood from HLA-identical sibling. N. Engl. J. Med.321, 1174–1178 (1989).
  • Gluckman E, Devergie A, Schaison G et al. Bone marrow transplantation in Fanconi anemia. Br. J. Haematol.45, 557–564 (1980).
  • Wagner J, Davies SM, Auerbach AD. Hemotopoietic stem cell transplantation in the treatment of Fanconi anemia. In: Hematopoietic Cell Transplantation Second Edition. Forman SJ, Blum KG, Thomas ED (Eds). Blackwell Science Inc. MA, USA, 1204–1219 (1999).
  • Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A. Preimplantation HLA typing. JAMA291, 2079–2085 (2004).
  • Rechitsky S, Kuliev A, Tur-Kaspa I, Morris R, Verlinsky Y. Preimplantation HLA typing with preimplantation genetic diagnosis. Reprod. BioMed. Online6, 488–493 (2004).
  • Van deVelde H, Georgiou I, De Rycke M et al. Novel universal approach for preimplantation genetic diagnosis of β-thalassemia in combination with HLA matching of embryos. Hum. Reprod.19, 700–708 (2004).
  • Kahraman S, Karlilaya G, Sertyel S, Karadayi H, Findicli N, Oncu N. Clinical aspects of preimplantation genetic diagnosis of single-gene disorders combined with HLA typing. Reprod. BioMed. Online9, 529–532 (2004).
  • Kuliev A, Rechitsky S, Tur-Kaspa I, Verlinsky Y. Preimplantation genetics: improving access to stem cell therapy. Ann. NY Acad. Sci.1054, 1–5 (2005).
  • Kuliev A, Rechitsky S, Verlinsky O, Kalakoutis G, Angastiniotis M, Verlinsky Y. Preimplantation diagnosis and HLA typing for haemoglobin disorders. Reprod. BioMed. Online11, 362–370 (2005).
  • Goussetis E, Kokkali G, Petrakou E et al. Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing. Biol. Blood Marrow Transplant.16, 344–349 (2010).
  • Rechitsky S, Kuliev A, Sharapova T et al. Preimplantation HLA typing with aneuploidy testing. Reprod. BioMed. Online12, 81–92 (2006).
  • Edwards RG. Ethics of PGD: thoughts on the consequences of typing HLA in embryos. Reprod. BioMed. Online9, 222–224 (2004).
  • Fost NC. Conception for donation. JAMA291, 2125–2126 (2004).
  • Kahraman S, Beyazyurek C, Ekmeksi C et al. Seven years experience of preimplantation HLA typing: a clinical experience of 327 cycles. Reprod. BioMed. Online23, 363–371 (2011).

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