Advice about carrier testing Carrier testing and reproduction: your options

Contact your nearest genetics centre to find out if testing is available for the condition in which you are interested. If you want to be tested, your family doctor can refer you to the genetics centre. The genetics centre and your family doctor can then arrange for other possible carriers and family members to visit the appropriate centre, and/or to give blood samples for testing.

Once you know you are a carrier, you have the option to undergo Preimplantation genetic diagnosis (PGD), which involves using In vitro fertilisation (IVF):

In vitro fertilisation (IVF)

In vitro fertilisation (IVF) is a reproductive medicine technique used to assist couples who cannot, or have difficulty, conceiving naturally. Embryos are created in the laboratory from the eggs and sperm of a couple, then transferred into the womb in the hope that a pregnancy will occur. First, the ovaries of the female partner are stimulated using fertility drugs to produce several eggs. Once the eggs are mature, they are collected from the ovaries. A semen sample is produced by the male partner and the sperm is then used to fertilise the eggs in the laboratory. Eggs which are successfully fertilised begin to grow and divide; they are now called embryos, and can be transferred into the womb in the hope a pregnancy will occur.

Pre-implantation genetic diagnosis (PGD)

Pre-implantation genetic diagnosis (PGD) is a technique that has been developed to help couples who are at risk of having a child with a serious genetic condition to have an unaffected child. PGD involves using in vitro fertilisation (see above) to create embryos in the laboratory from the eggs and sperm of that couple. The embryos are then tested for the particular genetic disorder.

PGD is currently offered in only a few centres in the UK. It is a relatively complicated and lengthy procedure with some associated risks. The chances of a successful cycle of PGD are relatively low compared with the chances of conceiving naturally. National guidelines have been developed, which lay out certain criteria that must be met for a couple to be eligible for PGD. If you think this is an option you might wish to pursue or find out more about, you need first to be seen by your nearest Regional Genetic Service.

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