PGD for genetic disease
|If there is evidence of inherited disease in your family, you are well aware of the risks you take in conceiving without help. You or your partner could be carriers of a genetic trait meaning that you may pass that trait on to your offspring. Ways of avoiding the birth of offspring suffering from genetic disease include amniocentesis, but probably the best technique for disease avoidance is in the use of PGD for genetic disease.||
How can PGD for genetic disease help me?
PGD is a way of diagnosing the genetics of embryos while they are still in the preimplantation stage (for example in the test-tube). How is it done?
Who can do PGD?
|In PGD, sequences of interest include areas of single genes where specific mutations are present, overlapping sequences between deletion breakpoints and sequences between translocations. The type of analysis technique used depends on the sequence of interest. PCR analysis in PGD is currently most widely used in the diagnosis of genetic disease and immunohistocompatibility.||
How do scientists analyse my embryos with PGD?
Is PGD better than amniocentesis?
Which genetic diseases can be analysed with PGD?
Di George syndrome
Duchenne muscular dystrophy
Spinal muscular atrophy
Won’t embryo biopsy hurt or damage the embryos?
What is genetic disease?
The function of the human body is maintained by the production of proteins often from a single gene. Because each gene has two copies or alleles (originating from the mother and father of the individual), a certain amount of toleration towards mutations in the genetic code of individual genes occurs within the body. This means that carriers of genetic disease are normal individuals in which one of the alleles of a gene is mutated.
Genetic disease then occurs when two carriers of a specific disease produce offspring in which both mutations are present. When two individuals are carriers, there is a 1 in 4 (25%) chance of producing affected offspring. A further 2 in 4 (50%) of offspring are themselves carriers, ad 1 in 4 (25%) are free of the disease. In these cases, even if these carriers are perfectly fertile, PGD can be recommended to enable the genetic testing of the embryos and eliminate the 1 in 4 risk of producing offspring affected by the disease.