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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?
A small portion of the developing embryo is removed through embryological biopsy techniques developed for PGD. This portion of the embryo is then tested with the PCR technique for the gene in question. The result of the analysis tells us if the embryo is affected, a carrier, or free of the disease.
Embryos free of the disease in question are then replaced in the uterus, avoiding genetic disease because affected embryos are not replaced.

Who can do PGD?

PGD is usually performed in specialised IVF centres. For genetic analysis, these labs often collaborate with geneticists and molecular biologists. In the UK, centres must have a special license to perform PGD and the UK authorities give licenses for PGD of specific diseases. This is to stop the abuse of the technique for eugenetics.

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. Diagnosis with PCR of PGD for genetic disease

How do scientists analyse my embryos with PGD?

With PGD for genetic disease, scientists use the technique of Polymerase Chain Reaction to diagnose your embryos. PCR is a technique in which small sections of the genes in question are used to amplify the gene under analysis. When there is enough DNA to test, a second system is used to analyse the gene in question. This system could include gene sequencing to see if the gene has the right sequence.

Is PGD better than amniocentesis?

There is a lot of discussion about which is the better technique. PGD is better in the sense that a pregnancy does not have to go forwards before analysis can be undertaken. We think this is better for couples because the anxiety of the pregnancy is reduced.
On the other hand, with amniocentesis more cels are available for analysis, which makes the technique more reliable.

Which genetic diseases can be analysed with PGD?

Essentially, any genetic disease can be analysed with PGD. Some of the common genetic diseases analysed are shown here:
Cystic fibrosis

Di George syndrome

Duchenne muscular dystrophy


Haemophilia A

Retinitis pigmentosum

Spinal muscular atrophy

Tay-Sachs disease


Won’t embryo biopsy hurt or damage the embryos?

Embryo biopsy removes a small portion of the embryos’ genetic material. Studies have not shown that this damages the embryo. However, efforts are being made to improve the biopsy technique such as blastocyst biopsy.



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.


PGD techniques of choice.
The use of FISH in preimplantation genetic diagnosis.


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One Response to PGD for genetic disease

  1. Samuro says:

    Can somebody write a paragraph or thus explaining the research of PGD?? Much appreciated.

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