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Despite being quiet, these changes may cause infertility and repeated pregnancy loss for couples. Learning about them and their diagnosis can guide you in choosing the best care for your fertility.
What Are Chromosomal Translocations?
Learning the basics of genetics can make it easier to understand chromosomal translocations. All the DNA instructions your body relies on come from the 23 pairs of chromosomes. Every person receives one set of DNA from each parent.When pieces of chromosomes separate and are attached to other chromosomes, it is called a chromosomal translocation. This issue may arise in several ways, but the main ones that affect fertility are:
- Balanced translocation: No genetic material is lost or duplicated; it is just rearranged. You usually have no symptoms and may not even know you carry it.
- Unbalanced translocation: There is a gain or loss of genetic material, which can disrupt normal development and often leads to miscarriage or congenital issues.
- Early miscarriage
- Repeated implantation failure
- Congenital disabilities
- Infertility without a clear cause
How Chromosomal Translocations Affect Fertility?
If all the tests are normal, you might ask, “Why can I not stay pregnant?” This could simply be a silent rearrangement of the chromosomes.If a partner has a balanced translocation, they can still have children. When eggs or sperm are combined during conception, an unequal blend of genes may be passed onto the embryo. This usually results in one of three possibilities:
- The embryo fails to implant.
- A pregnancy begins but ends in miscarriage.
- A baby is born with a chromosomal disorder (rare in this context).
Who Should Consider Testing for Translocations?
Your doctor may recommend karyotype testing (a blood test to examine your chromosomes) if:- You’ve had two or more miscarriages.
- You've experienced failed IVF cycles without explanation.
- You or your partner has a family history of genetic disorders.
- You're dealing with unexplained infertility.
How Is a Translocation Diagnosed?
Tests for chromosomal translocations mainly depend on analysis by karyotype. This test analyses the size and shape of your chromosomes taken from your blood. While it doesn’t form part of routine testing, testing for antiphospholipid antibodies may be a part of recurrent miscarriage workup, however this is separate from karyotyping.Here’s what to expect:
- A blood sample is taken from both partners.
- Results typically take 2–3 weeks.
- If a translocation is found, your doctor will explain the type, location, and what it means for your fertility.
What Are Your Options if a Translocation Is Found?
If your chromosomes have been affected by a translocation, you can still have kids. All it means is that the process isn’t the same. Sometimes, your fertility specialist may advise you to try one or several options.1. Natural conception with close monitoring
Some decide to give natural conception a try, especially if they have had a healthy pregnancy earlier. It requires you to do the following things:- Early ultrasounds and monitoring.
- Potential prenatal genetic testing if pregnancy is achieved. However, this does come with a higher risk of miscarriage.
2. Preimplantation Genetic Testing (PGT) with IVF
This is one of the most effective ways to increase your chances of a successful pregnancy. With this approach:- IVF technology is used to create embryos in the lab.
- PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) screens the embryos for unbalanced translocations.
- Only genetically balanced embryos are transferred.
3. Use of donor eggs or sperm
If transferring one partner’s gametes leads to significant challenges with embryo growth, your doctor may talk to you about using donor eggs or sperm. Although the decision is private, it can increase your odds of achieving a good outcome.4. Adoption or surrogacy
For a few couples, adopting or having a surrogate feels right because it fits them emotionally and from a medical standpoint.The Emotional Side of Genetic Findings
Being told that one of you has a genetic translocation can be a challenging experience. It might result in experiencing feelings such as guilt, confusion, or grief. Such situations are typical for everyone.It's important to remind yourself that:
- You did nothing to cause this.
- Translocations are often inherited and not a result of lifestyle or choices.
- You have options, support, and science on your side.
Why Early Genetic Screening Matters?
While genetic testing isn’t part of every initial fertility evaluation, it can save time, emotional distress, and financial resources in the long run, especially for couples facing recurrent loss or unexplained challenges.By identifying a translocation early, you’re better equipped to:
- Avoid repeated unsuccessful treatments.
- Make informed decisions about IVF and PGT.
- Pursue options that offer higher chances of success.
With tools like karyotype testing, PGT-SR, and targeted fertility treatments, you have options to increase your chances of success, whether that means conceiving naturally, using IVF, or exploring alternative paths to parenthood. These advances improve outcomes and offer peace of mind, knowing you're making decisions rooted in science and tailored to your needs.
FAQs on Understanding Chromosomal Translocations And Their Impact On Conception
- Can I have a healthy baby if I carry a balanced translocation?
Yes, many individuals with balanced translocations go on to have healthy children, either naturally or through assisted reproduction. Preimplantation genetic testing (PGT) during IVF significantly reduces the risk of miscarriage or chromosomal disorders. - Does a chromosomal translocation affect both partners equally?
Not necessarily. Even if only one partner carries the translocation, they can still pass on an unbalanced chromosome to the embryo. Both partners should undergo karyotype testing to understand reproductive risks fully. - Is PGT-SR covered by insurance or fertility packages?
Coverage varies depending on your location, provider, and insurance policy. It’s best to speak with your fertility clinic’s financial counsellor to understand costs and possible reimbursement for genetic testing and IVF with PGT.
