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Preimplantation Genetic Diagnosis (PGD) of Hereditary Cancer Syndromes


Authors: L. Raszyková;  V. Hořínová;  P. Texl
Authors‘ workplace: Laboratoř lékařské genetiky, Sanatorium Helios, Brno
Published in: Klin Onkol 2012; 25(Supplementum): 84-86

Overview

Advances in molecular biology techniques made possible genotype analysis from one or se­veral cells. This can be used in preimplantation genetic diagnosis (PGD) not only of chromosomal aneuploidy but also of single gene diseases as well as hereditary cancer syndromes. PGD can be a benefit for those cases when the risk of transfer of pathological alteration from parent to offspring is unwelcome. We submit three cases of PGD with the results.

Key words:
 preimplantation genetic diagnosis – single gene disease – hereditary cancer syndromes – ­in vitro fertilization

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
27. 4. 2012

Accepted:
25. 6. 2012


Sources

1. Wells D, Delhanty JD. Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol Med 2001; 7(1): 23–30.

2. Harton GL, De Rycke M, Fiorentino F et al. ESHRE PGD consortium best practise guidelines for amplification-based PGD. Hum Reprod 2011; 26(1): 33–40.

3. Hüttelová R, Kleibl Z, Řezáčová J et al. Předpoklady pro preimplantační genetickou diagnostiku (PGD) u nosičů mutací v nádorových predispozičních genech. Klin Onkol 2009; 22 (Suppl): 69–74.

4. De Boer K, MacArthur S, Murray C et al. First live birth following blastocyst biopsy and PGD analysis. Reprod Bio­med Online 2002; 4: 35.

Labels
Paediatric clinical oncology Surgery Clinical oncology

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Clinical Oncology

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