Whether you are already expecting a child or planning to start trying in the future, there are a variety of genetic testing options you may consider in advance. These tests can identify if you have a genetic condition or are at risk of developing one. Genetic testing options such as karyotype testing and carrier testing can also analyze your child’s genes or chromosomes to detect abnormalities. There are even genetic testing options for infertility, which can help you figure out if a genetic or chromosomal disorder is impeding your chances of conceiving a child. Your doctor will usually be able to determine which tests are best for you depending on your medical and family history and, in most cases, these tests will be covered by insurance if recommended by a doctor.
From carrier testing to karyotype testing, find out how these genetic testing options compare, which ones you should consider, and how each test relates to your fertility.
Key takeaways
- Genetic testing analyzes changes, or mutations, in genes, chromosomes, or proteins to confirm or rule out a disease or suspected genetic condition.
- Karyotype testing and carrier testing are two types of genetic tests. Karyotype testing looks at chromosomal structure and arrangement, and carrier testing looks for specific genes and mutations.
- Your doctor may recommend karyotype testing if you are having trouble conceiving, having miscarriages, or if the results of a prenatal test were abnormal. Anyone can be a candidate for carrier testing.
- Finding out you or your child has a genetic condition early or that you are at risk of developing a condition can help you make informed decisions about your healthcare and the healthcare of your child.
What is genetic testing?
Genetic testing looks for changes, or mutations, in genes, chromosomes, or proteins to confirm or rule out a disease or suspected genetic condition. It can also help determine a person’s chance of developing or passing on a genetic disorder to their children. Whether performed during pregnancy or before trying to conceive, genetic testing may also be able to detect some fertility-related gene mutations, as well as conditions that may impact the success of assisted reproductive techniques. There are a variety of ways to perform a genetic test, which may use a sample of blood, hair, skin, amniotic fluid, saliva, or other tissue. There are currently over 77,000 genetic tests currently in use and more in development.
The CDC recommends seeking genetic counseling before and after genetic testing to help ensure you are the right person in your family to undergo genetic testing and that you understand your results. Some common reasons for performing genetic testing is to learn whether you have a genetic condition that runs in your family before developing symptoms, to diagnose a genetic condition if you or your child already have symptoms, or to learn about the chances of a current or future pregnancy resulting in a genetic condition.
What is karyotype testing?
Chromosomes are threadlike structures made of DNA that are found in the nucleus of each cell. We inherit half of our chromosomes from each parent, amounting to a full set of 46 chromosomes. Karyotyping is a type of genetic test that analyzes the size, shape, and number of chromosomes in a sample of cells from your body. If the test finds that you or your child have more or less than 46, it may indicate a genetic disorder. Karyotyping testing will also look for changes in chromosomal structure, such as broken or missing parts. These types of structural changes may be linked to problems with fertility like Y-chromosome microdeletion (YCM) or balanced translocation. To perform karyotype testing, a doctor may draw blood, perform a bone biopsy, test amniotic fluid, or take a sample of cells from the placenta (chorionic villus sampling, or CVS).
Karyotype testing can reveal the following conditions:
- Down syndrome: an extra (third) copy of chromosome 21, resulting in developmental and intellectual delays
- Edwards syndrome: an extra copy of chromosome 18, which causes a distinctive appearance of the skull and face and impaired development of the brain and various organs
- Patau syndrome: an extra copy of chromosome 13, causing abnormal growth in the womb, resulting in severe intellectual disability and physical abnormalities
- Klinefelter syndrome: an extra X sex chromosome in a biological male, which may cause abnormal body proportions, low testosterone, testicular failure, flat feet, and higher risk for diseases like type 2 diabetes and high blood pressure
- Turner syndrome: a missing or damaged X chromosome in a biological female, which may cause short height, failure of the ovaries to develop, and heart defects
What is carrier testing?
Genetic carrier testing can reveal whether you and/or your partner carry a genetic mutation and assess the risk of your child inheriting a genetic disease. Many people choose to perform this test if they have a family history of a genetic disorder or if they are in a certain ethnic group known to have an increased risk of genetic conditions. For some people, finding out they are a carrier for a genetic disease may lead them to make different decisions about building a family, such as using IVF with donated sperm or eggs, or not starting a family at all. The choice is an incredibly personal one, but genetic carrier testing empowers you to make those choices with as much knowledge as possible.
Carrier testing can reveal the following conditions:
- cystic fibrosis
- spinal muscular atrophy (SMA)
- fragile X syndrome
- thalassemia
- sickle cell disease
- Tay-Sachs disease
Karyotype testing vs genetic testing vs carrier testing: What are the differences?
Genetic testing refers to the wide range of medical assessments a person can perform to confirm or rule out genetic conditions or the likelihood of you, your partner, or your child developing these conditions. Karyotype testing and carrier testing are two genetic testing options: carrier screening looks for specific genes and mutations, while karyotype testing analyzes chromosomal structure and arrangement.
When to consider genetic testing
Genetic testing is not required, but it can be extremely helpful for someone considering having a child. Finding out you or your child have a genetic condition early or that you are at risk of developing a condition can help you make informed decisions about your healthcare and the healthcare of your child. But it’s also worth noting that genetic testing can also cause stress or fear if a test comes back positive. This is why genetic counseling is always recommended. Your doctor can help provide valuable insights about which genetic testing option is suitable for you or your child.
When to consider karyotype testing
Your doctor may recommend karyotype testing if:
- you are having trouble conceiving or having miscarriages
- results of a prenatal test were abnormal
- the birth mother is over the age of 35, at which point the risk of passing on genetic diseases increases
- you have a family history of genetic or chromosomal disorders
- you have another child with a genetic disorder
- you or your partner have been diagnosed with certain cancers or blood disorders that involve chromosomal changes
When to consider carrier testing
Being a carrier for one or more genetic conditions is very common, so anyone who is expecting a child or planning on having a child should consider genetic carrier testing. Sometimes genetic diseases are spontaneous, so even if you or your partner do not have a family history of a condition, carrier testing can still help identify any that exist or may develop. Ideally, carrier testing and counseling should be performed before pregnancy.
Other types of genetic testing (e.g. 23andMe)
Direct-to-consumer genetic testing has become increasingly popular with companies like 23andMe and AncestryDNA. With a simple saliva swab, these tests can provide interesting insights about your family history and your health to a certain extent. But experts agree that you will get more accurate information from a medical DNA test ordered by your doctor than from an at-home test kit. Results of a medical test are analyzed by a molecular geneticist who likely specializes in DNA, genetic testing, and hereditary diseases, and they will have the context of your medical history to assess your results. At-home test kits will not have this context, which means your results will not offer as much depth or accuracy as you might hope.
Benefits of genetic testing
Whether the results of genetic testing are positive or negative for a gene mutation, your results can provide valuable insights into your health and/or the health of your child. Genetic testing helps you make informed decisions about your healthcare and how you want to start a family, potentially identifying treatments or methods you may not have considered otherwise.
Benefits of karyotype testing
Karyotype testing can help identify genetic disorders that may affect one’s fertility. This can be especially helpful if you have been trying to conceive for over a year or if your pregnancies are resulting in miscarriages or stillbirths. Karyotyping on an unborn child can also reveal conditions that may result in birth defects. This can determine what additional tests are needed or help you make decisions on your healthcare or the future healthcare of your child.
Benefits of carrier testing
When performed before getting pregnant or in early pregnancy, carrier screening can help individuals make informed decisions regarding how (and if) they want to start a family. If positive, you may pursue using donor sperm or eggs or exploring adoption. Carrier testing can also help you make important decisions about your own healthcare. If you find out you are a carrier of a condition before you have symptoms, you can best prepare yourself for the type of treatments you may want to pursue in the future.
Other ways to plan for trying to conceive
Genetic testing is best performed before you start trying to conceive, but there are a number of other ways you can plan ahead. Making simple lifestyle changes — such as following a healthy diet, taking male fertility supplements, engaging in regular physical exercise, and evaluating your smoking and drinking habits — can help improve your chances of conceiving. You may also assess whether any current medications could be harmful to your fertility so you can discontinue or replace them with something else. Working with your partner to track their fertility and ovulation window can also help you determine the best time to have sex, or you can work together to explore options if you are both already struggling with fertility.
One way to determine if you are struggling with male-factor infertility is to run a semen analysis, which is a simple lab test that can help you understand and optimize your fertility.
Semen analysis
A semen analysis measures key male fertility factors such as how much semen you produce, the number of sperm in your semen, how your sperm move, and how they are shaped. In the past, you had to visit a clinic for these kinds of insights, but with Legacy’s at-home semen testing kit, you can provide your sample in the comfort of your home, send it to the lab through the mail, and receive results in as little as a week. You may also choose to freeze your sperm sample for a low monthly or annual fee if your results indicate your sperm is healthy and viable.
Find out more about the family planning process in our men’s guide to trying to conceive.