OvobankID knows that the health of any future babies born from OvobankID donor eggs is paramount. This is why we perform genetic studies on our donors as standard. OvobankID has performed recessive mutation carrier studies on all new donors to minimize the transmission of genetic diseases.
As an intended parent you may be asking yourself: “what does that actually mean for me?”. In this article we aim to explain what a recessive autosomal disease is, how you can be a carrier without knowing, the risk of your children of inheriting a genetic disease and how genetic testing of our donors minimizes this risk to your future family.
How does genetic inheritance of recessive mutations work?
To explain what this all means, we will use the disease cystic fibrosis as an example. Cystic Fibrosis is a genetic disease that affects the lungs, as well as other organs such as the pancreas. It causes a build up of thick mucus in the lungs which clogs up the airways and traps microorganisms that can lead to infection and respiratory failure. You can learn more about cystic fibrosis here.
The disease itself is due to a mutation in a gene named CFTR. As humans have 2 copies of each chromosome they therefore have 2 copies of each gene. The CFTR mutation has recessive inheritance. This means that you will have the disease if both genes carry the mutation, just one copy of the correct gene is enough to be healthy. If only one of your CFTR genes is defective you would be a carrier of cystic fibrosis, but not have the disease, so you could be a carrier without ever knowing.
This diagram shows how if both genetic parents carry the recessive mutation, they have an increased risk of having a sick child.
If two carriers of the diseases reproduce together there is a 25% chance (1 in 4) of their child being affected.
By testing for this gene, and excluding any donors who are carriers of any of the mutations included in the panel, we reduce the risk of the baby having this recessive genetic disease.
OvobankID tests donor candidates for a variety of genetic diseases
There are lots more diseases that are caused by recessive mutations, and our genetic studies test for many of them. The number of mutations and diseases studied depends on the specific genetic compatibility test performed and any potential donors found to be a carrier of the mutations included in the genetic panel used for the following diseases are excluded from becoming an OvobankID donor:
- Cystic Fibrosis
- Spinal Muscular Atrophy
- Alpha Thalassemia
- Beta Thalassemia
- X-linked diseases (fragile X or G6PD, among others)
- Non-syndromic deafness
The results of the genetic analysis of any of the candidates who become an OvobankID donor can be found, in detail, in the extended donor profile.
Further safety with genetic compatibility testing
Additionally, if the patients wish, we can perform a genetic compatibility study between the donor and the recipient patient’s partner, which consists of analyzing the genetic information to ensure that the donor and the patient do not share any of the recessive mutations studied, thus minimizing the risk of transmitting a genetic disease to their descendants.
Furthermore, if necessary we can add in any other genetic diagnosis at the request of our Collaborating Centers, and the vast majority of our donors have been studied on an “Exome basis” which means “universal matching” is possible (matching performed using genetic analysis using one of the various genetic panels on the market).
If you would like to access our detailed donor profiles, which contain a multitude of information about the donor, not just the genetic analysis, or if you have further questions about the genetic analysis of our donors, then please do not hesitate to contact us – we are always happy to help. 🧬🔬❤
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📞 NORTH AMERICA: (213) 221-0080