Primary Prevention Of Genetic Disorders And Place Of Preimplantation Genetic Diagnosis

Is known that homocysteine accumulates if conversion to methionine is slowed because of shortage of folate or vitamin B12, or both, and a raised plasma homocysteine suggests suboptimal nucleic acid and amino acid metabolism. It also has direct harmful effects, e.g., it increases the risk of cardiovascular disease through thickening the lining of blood vessels, and may also increase the risk of certain cancers and dementia 13-16 . It is also known that reactions catalysed by tetrahydrofolate are...

Practical Preimplantation Genetic Diagnosis

Verlinsky Y, Milayeva S, Evsikov S, et al. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn 1992 12 103-10. 9. Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnosis testing for cystic fibrosis. N Engl J Med 1992 327 905-909. 10. Goossens V, Sermon K, Lissens W, et al. Clinical application of preimplantation genetic diagnosis for cystic fibrosis. Prenat Diagn 2000 20 571-581. 11....

Preimplantation Genetic Diagnosis For Single Gene Disorders

Malignancy with a median age at diagnosis of 40. Because the mutations in the APC gene are almost completely penetrant, although with striking variation in expression, even presymptomatic diagnosis and treatment of carriers cannot exclude the progression of polyps to malignancy, making PGD an attractive approach for couples carrying APC mutations. However, no successful attempt to apply PGD for FAP has been reported 50 . VHL disease is a cancer syndrome with age-related penetrance,...

Conditions with No Available Direct Mutation Testing

Although the availability of the sequence information is one of the major conditions in undertaking PGD for Mendelian diseases, it is also possible to perform PGD when no exact mutation is known. One of the examples demonstrating feasibility of the approach may be the most recent report of PGD for autosomal dominant polycystic kidney disease (ADPKD), caused by either PKD1 orPKD2 genes, for which no direct testing is yet available in most of the couples at risk, making linkage analysis the...

Current Experience of PGD with Preimplantation HLA Matching

In addition to FANCC, we have now undertaken HLA genotyping in more than two dozen cycles in combination with PGD for thalassemia, FANCA, hyperimmunoglobulin M syndrome (HIGM), X-linked adrenoleukodystrophy (X-ALD) and Wiscott-Aldrich syndrome (WAS), and X-linked hypohidrotic ectodermal displasia with immune deficiency (HED-ID) 14 , confirming the usefulness of preimplantation HLA matching as part of PGD, which potentially provides an HLA-matched progeny for treatment of an affected sibling....