Expanded Carrier Screening is a Genetic Test that Detects Gene Variants Linked to Common Genetic Disorders
Prepare Today for your Family’s Tomorrow with a Simple Genetic Test
Understanding the significance of Genetic Carrier Screening before your eSET (Elective Single Embryo Transfer) is essential. The following necessary steps must be taken as you proceed down the journey of conception, if using donor eggs and achieving pregnancy from an embryo transfer of donated oocytes. These measures include making appointment for a preconception health check with your fertility specialist, checking that immunisations are up to date and starting some pre-pregnancy supplements. However, one such key component that is often overlooked is the expanded genetic carrier screening test. This
assessment can uncover potential genetic mutations that could affect the well-
being of your future child.
About Extended Carrier Screening Test
So, before we analyze that, let’s talk in general terms about what mutations/variations are and why they’re important. We have about 20,000 of these human genes and within these genes we carry different versions that can impact the health of our children. Though we typically inherit two copies of most genes, the healthy version can obscure variation that causes disease, and so our family’s health also seems unaffected. “Many genetic conditions are similar, such as cystic fibrosis, hemophilia and sickle cell anemia.
And many are probably surprised to hear that it is actually fairly common to carry the genes. Approximately 1:20 people are carriers for diseases like Cystic fibrosis (CF), Spinal muscular atrophy (SMA) and Fragile X syndrome (FXS). Crucially, your children are not in danger from any of these variations unless your partner or egg donor also carries the same gene.
In such scenrios, your child can have 25% possibility to inherit the bad genes from both his parents and could lead him to suffer very dangerous health problems. So you probably should get tested to be sure your guy isn't harboring any genetic quirks.
It's also a safe and easy process that can be used right at home; all you need is a simple cheek swab to determine your ethnicity! enabled with little risk, unlike the over estimated needle tests or other means. Today, there are saliva kits from genetic laboratories to know your genetic compatibility with your partner prior to building a future family together.
After you have finished a genetic carrier screening test, you should expect to get the results during an appointment with the genetic counselor in a couple of days or 2 weeks. At this appointment, the counselor will discuss your results with you and advise you on how to increase the chances that your baby will be healthy. It is important to know that the vast majority of these genetic differences will not impact your family. But if you, your partner or an egg donor is a carrier of a genetic mutation that could be inherited by your child, you may wish to explore other options.
This may involve additional testing in early pregnancy, such as Amniocentesis or Chorionic Villus Sampling (CVS), both diagnostic tests performed before a baby is born. Or, you may opt for preimplantation genetic testing in order to choose a genetically normal embryo to transfer.
In Ukraine, the Ministry of Health mandates genetic testing for both the egg
donor and the male partner supplying the semen. However, only four of the
most prevalent genetic disorders must be tested.
It's important to note that no genetic test can assure an utterly healthy
pregnancy or baby. Expanded Carrier Screening, on the other hand,
examines up to 603 different genetic conditions. This comprehensive
screening can detect over 99% of potential mutations in most of the genes
tested, but it cannot eliminate the possibility of all genetic conditions.
We strongly encourage you to have your partner undergo expanded genetic
carrier screening before embarking on assisted conception. Although this is an optional rule, and many players prefer not to test for it’s presence. Should your partner be proven to carry a mutation of any kind, then the egg donor will need testing for those mutations also. This way you know what you are getting yourself into.
For further details, feel free to discuss this with your Embryon Family fertility
consultant, who is committed to guiding you through every step of your
journey. Additionally, seeking advice from a local genetic specialist is
advisable, as most genetic laboratories offer counseling services.