The Test Before the Pregnancy Test
While some couples fall into the role of expectant parents without much thought, for others this journey can involve much more deliberation, planning, and effort before they decide to become parents. If you and your partner have agreed that the time is right to start a family, you may just want to begin trying immediately, but there are reasons that you should consider visiting your doctor first.
Genetic Carrier Testing
There are a few different kinds of testing that can be suggested by your doctor before you get pregnant, but the one of the most important for the health of your potential baby is genetic carrier testing. If either man or woman conceiving the child has an inherited genetic condition or has a family history of an inherited genetic disease, your doctor will likely recommend that you undergo carrier genetic testing before you begin trying to conceive to see if the prospective parents are genetic carriers.
What some people are surprised to learn is that genetic carrier testing is also a good idea when both parents are healthy. You and your partner may not present any symptoms of a genetic disorder or you may not have a detailed enough family history to know if you are at risk of having a child born with an inherited genetic disease. This is true for recessive genetic conditions, in which the disease is only present if a child inherits two copies of a mutated gene, one from each parent. Inheriting one copy results in being a genetic carrier without the condition. Because carrier status can be passed down many generations without family members developing the disease, your doctor may still recommend that you undergo genetic carrier testing in order better understand the risk of your child being born with a genetic condition.
The testing process is usually simple and pain-free — requiring only a blood sample from the parent taken at a conveniently located testing center. Most tests can screen for hundreds of potential genetic mutations at once and results are available within a few weeks.
After Carrier Genetic Testing
Usually, one partner is recommended to undergo carrier genetic testing first to see if they are a carrier for any recessive genetic diseases. If they test positive as a carrier, then your doctor will recommend that the other partner also be tested to see if they are a carrier for the same genetic disorder — this is the only way your child could inherit the condition. After all the results are received and analyzed, your doctor or genetic counselor will meet with you to discuss the findings.
The results of these tests do not mean that you and your partner shouldn’t have children, but you may be interested in looking at additional options toward parenthood like in-vitro fertilization (IVF) with preimplantation genetic testing (PGS), surrogacy, adoption, or the use of a sperm or egg donor.
Talk to Your Doctor
When considering starting a family, it’s important to meet with your doctor to understand all the potential risks to your child, but also just to ensure that you are as prepared as possible for pregnancy, childbirth, and parenthood. You doctor will be able to provide recommendations on testing, exercise, diet, tips to conceive, and other resources that will help you in the long run. They are also able to answer any questions that you may have about your family history or refer you to a genetic counselor if necessary.