28th February 2023
At X&Y Fertility, we support Rare Disease Day 2023.
Some rare diseases can affect people’s reproductive lives. Here we discuss one specific rare disease, Sickle cell disease, to raise awareness of how some people can now choose to use assisted conception to have create children without the condition.
Sickle cell disease (SCD) causes red blood cells to have a crescent or “sickle” shape, rather than the normal round shape. People who have sickle cells can have anaemia, episodes of pain and be more prone to infections.
SCD is an inherited disease. Whilst it has no direct link to fertility, IVF treatment can be used to produce embryos that can then be screened, before they are transferred to the potential mum. If both potential parents are carriers of an autosomal recessive condition, there is:
- a 25% (1 in 4) chance that the child will have the condition
- a 50% (1 in 2) chance that the child will be a carrier like each of the parents
- a 25% (1 in 4) chance that the child will not have the condition nor be a carrier.
SCD affects up to 3% of births in sub-Saharan Africa. In Ghana, around 14,000 children are born with the disease each year.
Before the pandemic hit in early 2020, the X&Y Fertility team visited a clinic in Ghana to perform IVF and preimplantation genetic testing of embryos for SCD. A few cells were carefully biopsied from the outer part of ten embryos that had been created in vitro (outside of the body) for the couple affected by the SCD trait.
The biopsy procedure doesn’t harm the embryos, as the cells that are removed come from those that eventually form the placentas. However, it is a highly challenging microscopic procedure – so there was a lot of pressure to do it right!
After performing the biopsies, we then had to send the cells from each embryo to another country, where there was a specialist lab capable of performing the SCD assay (which is like a DNA test). Meanwhile, the embryology team cryopreserved the embryos to await the results, whilst we travelled back to Leicester. And this was just in time, as the first UK Covid lockdown was announced a few days after landing back in the UK!
We kept in touch with the clinic via email and phone to find out the results. These were provided a couple of weeks later and showed that only one of the embryos did not have the SCD trait. The couple were contacted to tell them the news.
They were then scheduled to have a "frozen embryo transfer", whereby the unaffected embryo was scheduled to be removed from cryopreservation, warmed and transferred to the womb.
And the best news of all was that two weeks after the transfer the couple had a positive pregnancy test!
We were delighted when the clinic contacted us on 4th February 2021 to let us know that on a healthy baby boy was born SCD free.
Since the pandemic has passed, we have travelled back to Ghana to continue training the embryology team to help some more couples via fertility treatment to overcome this rare disease.
You can find the news article here to read more about our amazing achievement.
And don't forget there are over 300 million people living with a rare disease across the globe. Rare Disease Day is an international day to highlight these diseases and go towards supporting equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Check out the Rare Disease Day website to find out more.