It’s a match: How genetic testing helped find the right donor

We all carry mutations in our genes. In some cases, we can pass on these genetic mutations to our children, causing them to develop serious health issues. Some disorders, the so-called recessive disorders, occur when the woman and the man creating a child have mutations in the same gene. Other disorders, the dominant disorders, are passed on to a child even if only one of the parents carries the genetic mutation in question.

With GeneXmatch, women can screen their genes for a wide range of these two types of hereditary disorders. The test determines if the woman carries a dominant disorder in her genes and then compares her genes with those of her preferred donor to assess the risk of recessive disorder in a potential child. The genetic screening covers 400 of the most serious or common hereditary disorders and as a result, it increases the chance of having a healthy baby. GeneXmatch can uncover gene mutations that the woman may not know about because she does not have any symptoms of the related condition herself. Nevertheless, the mutation could impact the baby. Most of the disorders covered by GeneXmatch are not detected through standard screenings like NIPT (during pregnancy) or the newborn blood spot test.

European Sperm Bank tests all potential sperm donors thoroughly before they are approved. For instance, the medical staff at the sperm bank examines the size, shape and number of the donor candidate's chromosomes. He is also screened for six of the most frequently occurring hereditary disorders. This test is important because the donor candidate might carry a faulty gene without being sick himself. However, he could pass it on to a child, who could be affected. The prospective mother could carry it too without being affected.

“For me, there was no doubt. I wanted to be on the safe side”, Polly says of her decision to go with GeneXmatch. “It gave me peace of mind to know whether I carry dominant gene mutations in me and likewise, to check if my preferred donor and I shared the same genetic predisposition for recessive disorders”, Polly continues.

Polly received a test kit in the post with a test tube to spit into. Then she sent her sample to a lab chosen by European Sperm Bank. It was very quick and easy. The result reassured the young woman. Her preferred donor was a good match. In other words, she and her favourite donor did not share a genetic mutation that could trigger disease in a future child. Also, no risk of dominant disorders was detected in Polly's genes. “If there had been too high a risk of hereditary disorders with the donor I had chosen, I would have looked for another donor because it was vital for me that the risk of hereditary diseases be kept as low as possible”, Polly says. I was so happy that my favourite donor was a good match for me.

Family planning is a very personal matter. For many people, choosing a genetic screening like GeneXmatch is also a private decision.

Polly made an informed decision and wanted to be on the safe side because she had seen firsthand the impact of a genetic disorder. Also, you never know how severely the disorder will affect a person. A condition can affect people differently. “My cousin's daughter is doing really well and is leading a carefree life. But some children with the same genetic condition need an organ transplant immediately after birth; so the genetic mutation has more serious consequences for them”, Polly explains. She decided that she did not want to take this risk. Not for herself and her own life, and especially not for the life of her future child.