Screening for sickle cell and beta thalassaemia

Pre-implantation genetic diagnosis

People who discover before starting a family that both partners are carriers have several options. They may choose to stay together but not to have any children. They may decide to separate and find a different partner. They may choose to stay together and have prenatal diagnosis in each pregnancy to check if the baby is affected. Or they may decide to go ahead with having children without prenatal diagnosis, and accept what comes. See 'Telling people you are a carrier - implications for relationships and marriage' for people talking about these choices.

A new possibility for people who want to stay together but do not want to consider prenatal diagnosis and termination is pre-implantation genetic diagnosis (PGD or sometimes PIGD). This is a procedure where the woman's eggs are fertilised by her partner's sperm using in vitro fertilisation (IVF), a procedure normally used to treat infertility. Before the embryos are placed in the mother's womb, they can be screened for genetic conditions. The aim is to ensure only those embryos which are not affected by a sickle cell disorder or beta thalassaemia major are implanted. The success rates for this technique have been improving in recent years, but costs are high and it is still considered an experimental procedure which will not work for all parents. One mother we talked to said that a counsellor had mentioned PGD as a possibility for future pregnancies, but this was unusual.

Some people have ethical concerns about destroying embryos which are found to be affected. One mother described how a friend felt PGD was her only option, despite her religious views. She could not bear to have a second child affected by sickle cell.

A Roman Catholic couple from Italy got married knowing they were both beta thalassaemia carriers but hoping that modern techniques such as PGD would still enable them to become parents. They did not want to have a baby affected by the condition, particularly because his sister died of beta thalassaemia major aged 30. (See 'Seeing other family members/friends' experiences'). Although the Catholic Church opposes PGD, they themselves felt it was not an 'un-Christian' thing to do.

They were the only couple we spoke to who had tried PGD. They had done all their own research into the technique and had very little help from their local health service. Their GP said he could not refer them on the NHS so they found the name of a specialist in Italy who accepted them onto a treatment programme. Even then, they found it difficult to get some of the necessary tests and examinations done in England. They feel PGD is wrongly associated with 'designer babies', when it should be seen as a way to prevent serious illness and suffering.

Even when they were accepted onto the programme in Italy, they had to wait for over a year for a particular piece of laboratory equipment to become available to analyse the cells from the embryo. Sadly, none of their embryos turned out to be suitable for implantation. 

Shortly after their first attempt, the Italian government passed a law making all pre-implantation screening of embryos illegal. At first the couple had hopes they might be able to have an experimental new technique in which the unfertilised egg is screened rather than a fertilised embryo. They hoped this would be exempt from the law, but in fact it is also now illegal it Italy*.

However, since then they have discovered that they may now be able to have PGD in the UK, so they hope to try again. 

Anyone considering this treatment should talk to their GP to go through the options available. The GP can also refer people to see a specialist at your local hospital or fertility clinic although PGD isnt always availble on the NHS.

*The courts in Italy have since challenged this law and in some cases PGD has been allowed.

Last reviewed December 2018.
Last updated December 2018.


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