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The development of novel preimplantation genetic diagnosis (PGD) procedures and the study of early human development (R0113)

Licence holder: Professor Joy Delhanty

Some couples are at high risk of passing on an inherited disease to their offspring. For such couples to have a healthy family the main option open to them is to conceive naturally and to have prenatal diagnosis, where the fetus is checked to see if it carries the inherited disease. If the test proves positive the parents have to decide if they wish to continue with the pregnancy or have a termination.  To give these couples another option we have developed methods to test the embryo before it implants in the womb, called preimplantation genetic diagnosis or PGD. 

Each genetic disease requires an individual test to be developed so we are constantly doing research to perfect more tests and to tailor them to the families concerned. Our work to develop the first tests also gave us new information about the problems that can affect early human embryos that are generated in the laboratory by in vitro fertilisation (IVF).

This showed that about half of these embryos have at least some cells with abnormal chromosomes. We suspect that this is the main reason why so many IVF embryos die. Our current research aims to discover more about this widespread chromosomal abnormality and how it may affect the development of the embryo.

As women age they are at increasing risk of producing eggs with extra or missing chromosomes, but for some women this process starts earlier, before their mid 30s. By detailed examination of the chromosomes of eggs that remain unfertilised after IVF treatment we are finding out some of the reasons why this might be happening. Our research will also help to devise tests to decide which eggs are the healthiest and most likely to lead to a normal baby.

In some inherited disorders caused by single genes, the condition gets worse with succeeding generations; one aspect of our research aims to find out more about this problem.   We are also looking at a special group of genes which are called imprinted genes. Abnormalities in these genes can give rise to certain diseases and it appears that infertile couples are at a slightly higher risk of having a child with an imprinting disorder.  We are looking at early embryos to determine if these specific genes are working correctly. We are also looking at the metabolism of an embryo to see if this is related to chromosome abnormalities.

 

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Page last updated: 11 April 2009

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