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Preimplantation Genetic Diagnostics of Monogenic-based Diseases: Possibilities, Pitfalls and First Accomplishments in the Czech Republic


Authors: M. Putzová;  L. Pecnová;  J. Hulvert;  L. Vykysalá;  M. Landfeld;  K. Míka;  P. Potužníková;  M. Brandejská;  D. Stejskal
Authors‘ workplace: Centrum lékařské genetiky a reprodukční medicíny GENNET, Praha vedoucí MUDr. D. Stejskal
Published in: Čes-slov Pediat 2008; 63 (11): 626-633.
Category: Review

Overview

Preimplantation genetic diagnosis (PGD) has become the standard part of reproductive genetics. PGD enables transfer of mutation free embryos and precedes prenatal diagnosis and termination of affected pregnancies.

The introduction of advanced techniques of molecular genetics into clinical practice has broadened spectrum of cases solvable by PGD: in addition to chromosomal aberrations diagnosed by fluorescent in situ hybridization (FISH), precise diagnosis of a wide range of monogenic disorders has become available as well.

Authors are reporting on the first successful PGD for cystic fibrosis carried out at their centre in 2007. Highly polymorphic intragenic and extragenic short tandem repeat markers were used for preimplantation genetic haplotype analysis of CFTR gene in combination with direct analysis of F508del deletion by fragment analysis.

Key words:
monogenic diseases, PGD, PGH, multiplex PCR, whole genome amplification


Sources

1. Handyside AH, Kontogianni EH, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990;344(6268): 768–770.

2. Fragouli E. Preimplantation genetic diagnosis: present and future. J. Assist. Repris. Genet. 2007;24: 201–207.

3. Dreesen JC, Bras M, de Die-Smulders C, et al. Preimplantation genetic diagnosis of spinal muscular atrophy. Mol. Hum. Reprod. 1998;4(9): 881–885.

4. Hawkins TL, Detter JC, Richardson PM. Whole genome amplification: applications and advances. Curr. Opin. Biotechnik. 2002;13: 65–67.

5. Sun G, Kaushal R, Pal P, et al. Whole-genome amplification: relative efficiencies of the current methods. Leg. Med. (Tokyo) 2005;7: 279–286.

6. Sherlock J, Cirigliano V, Petrou M, et al. Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann. Hum. Genet. 1998;62: 9–23.

7. Lewis CM, Pinel T, Whittaker JC, et al. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum. Reprod. 2001;16(1): 43–50.

8. Abou-Sleiman PM, Apessos A, Harper JC, et al. First application of preimplantation genetic diagnosis to neurofibromatosis types 2 (NF2). Prenat. Diagn. 2002;22(6): 519–524.

9. Goossens 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 ΔF508 mutation. Mol. Hum. Reprod. 2003;9(9): 559–567.

10. Cystic fibrosis mutations database. www.genet.sickkids. on.ca/cftr

11. Renwick PJ, Trussler J, Ostad-Saffari E, et al. Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis. Reprod. Biomed. Online 2006;13(1): 110–119.

12. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Polar body-based preimplantation diagnosis for X-linked disorders. Reprod. Biomed. Online 2002;4(1): 38–42.

13. Thornhill AR, deDie-Smulders CE, Geraedts JP, et al. ESHRE PGD Consortium. Best practice quidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum. Reprod. 2005;20(1): 35–48.

14. The Preimplantation Genetic Diagnosis International Society (PGDIS): Guidelines for good practice in PGD. Reprod. Biomed. Online 2004; 9(4), 430–434.

15. Rechitsky S, Kuliev A, Tur-Kaspa I, et al. Preimplantation genetic diagnosis with HLA matching. Reprod. Biomed. Online 2004;9(2): 210–221.

16. Renwick P, Ogilvie CM. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues.Expert Rev. Mol. Diagn. 2007;Jan;7(1):33-43.

17. Altarescu G, Brooks B, Kaplan Y, et al. Singlesperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1. Hum. Reprod. 2006;21(8): 2047–2051.

18. Spits C, Le Caignec C, De Rycke M, et al. Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum. Mutat. 2006;27(5): 496–503.

19. Baart EB, 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. 2006;21(1): 223–233.

20. Daphnis DD, Delhanty JD, Jerkovic S, et al. Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy. Hum. Reprod. 2005;20(1): 129–137.

21. Balaščaková M, Piskáčková T, Holubová A, et al. Současné metodické postupy a přehled preimplantační, prenatální a postnatální diagnostiky cystické fibrózy v České republice. Čes.-slov. Pediat. 2008;63(2): 62–75.

22. American Society for Reproductive Medicine. Preimplantation genetic testing: a practice committee opinion. Fertil. Steril. 2007 Dec;88(6):1497–504.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
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