Genetic diseases run the gamut from relatively minor, like some forms of arthritis, to potentially disabling, such as spina bifida, to inevitably fatal, such as Tay Sachs. We offer a range of genetic testing options that can identify the causes of infertility, test to assess whether an embryo is at risk of a genetic anomaly, and measure the likelihood that a developing baby might have a birth defect.
Genetic Testing Options
Gone are the days of waiting until a pregnancy is well past the midway point to undergo genetic tests. Today, you can learn much about your body and a future pregnancy well before there's even an embryo. Genetic screening options include:
- Testing you for potential genetic causes of infertility.
- Testing you and your partner to assess whether either of you carries the gene for a serious disease, such as Tay Sachs.
- Testing embryos for genetic anomalies prior to an in vitro fertilization (IVF) transfer. This can reduce the chance of miscarriage, in addition to ensuring you deliver a healthy baby.
- Testing you for genetic risk factors for various diseases during pregnancy. This allows you to prepare for the possibility of having a child with birth defects. If the birth defects are serious enough, it can help you determine whether you want to continue with the pregnancy.
Reasons to Consider Genetic Testing
A hundred years ago, no one even knew genes existed. Now we know that, in conjunction with our environment, they affect much of how we live, reproduce, and feel. Unlocking your genetic legacy provides you with vital information about your health and future.
Advantages of genetic testing include:
- Targeted treatment for any fertility or other health issues you have. Doctors often uncover fertility abnormalities, but are unsure of what causes them. Genetic testing may help you pinpoint the cause, and can occasionally even help you select a targeted treatment based on your specific genetic heritage.
- The ability to select the healthiest embryo before an IVF transfer. This saves you the heartbreak of failed IVF treatment cycles and early miscarriages.
- The ability to prepare for a child's special needs.
Who Should Get Genetic Testing?
Almost everyone can benefit from genetic testing before or during pregnancy, since not everyone who has a genetic disorder -- or whose baby carries such a disorder -- displays clear risk factors. Talk to your doctor about any concerns you have about genetic testing, but know that this is a viable and potentially beneficial option no matter how healthy you are.
The following are strong indications that you might benefit from genetic testing:
- You or your partner are a member of an ethnic group that tends to carry a specific genetic mutation, such as Ashkenazi Jews.
- There is a history of reproductive problems in your family, such as late-term miscarriage, infertility, birth defects, or problematic childbirths.
- You or your partner has a genetic disorder, or there is a history of genetic disorders in your family; even if you have no symptoms, you could be a carrier.
- You have unexplained infertility.
- You have suffered from repeated miscarriages, and your doctor has been unable to pinpoint a cause.
Your provider can discuss with you the right set of genetic tests for your needs.
Are There Any Risks of Genetic Testing?
Genetic testing is a low-risk procedure. In most cases, it will only require a blood sample taken from a vein -- a similar procedure to testing for other common causes of infertility. If you are having embryos tested, the doctor will remove a single cell from the embryo to test for genetic disorders -- a risk-free procedure.
In some cases, doctors rely on risk factors to assess whether further testing is necessary. For example, your doctor might recommend testing for Down syndrome if a nuchal translucency screening on ultrasound reveals an anomaly. Both the ultrasound itself and the follow-up testing are virtually risk-free.
Though genetic testing won't harm your health, is noninvasive, and is unlikely to hurt, there are some risks associated with genetic testing for infertility. Those include:
- Psychological distress. If you know you carry a genetic anomaly, you may be overwhelmed by panic about this issue, particularly if there is a significant chance your baby might have it. When undergoing testing that merely tells you you are “at risk,” without telling you for sure whether your child or you have something, you may find yourself worrying right up to the birth.
- Incorrect diagnosis. Many genetic tests only tell you about risk factors. If you or your child are at risk of a disorder, but have not been definitively diagnosed with it, you'll be charged with making a decision based on incomplete information. For example, some birth defects produce changes in the blood that signal a problem, but these changes can also be a part of a normal pregnancy. This means you and your spouse might prepare for a child with birth defects, only to learn that there is nothing wrong with your child.
- Fewer embryos to implant with an IVF cycle. If some embryos have genetic anomalies, your doctor will not implant these. This is not a risk, per se, but it can decrease the likelihood of having a viable pregnancy. The good news is that, had one of those embryos implanted, it likely would have produced either a miscarriage or a child with severe birth defects. So even if you don't get pregnant one cycle, it does not necessarily mean that you would have if you had foregone genetic testing.