Written by Betsy Swope, MS, CGC
Written on 3/10/21
Should I pursue genetic testing as I plan to build my family?
If you are trying to conceive, you may want to find out if you and your partner carry inherited genetic conditions that could affect your future pregnancies. Genetic carrier screening can tell you if you carry a genetic change (mutation) that could increase your risk of having a child with a genetic condition.
In fact, many men and women are carriers of inherited conditions without knowing, since they show no symptoms. Additionally, about 8 in 10 individuals who are carriers of a genetic condition have no known family history.
Genetic carrier screening can tell you if you carry a genetic change (mutation) that could increase your risk of having a child with a genetic condition.
What type of genetic carrier screening tests are out there?
You may be wondering about the different options for genetic carrier screening tests. Here are a few to consider:
Cystic fibrosis (CF)
Cystic fibrosis is an inherited disorder that affects multiple organs, including the lungs and digestive system. The main issue is with the cells that produce mucus — people that have CF have sticky and thick mucus that impacts the tubes and ducts of many organs, specifically lungs and pancreas.
Although CF is a chronic illness, patients with treatment are likely to do well and live well into their 50s or older. CF is mostly commonly seen in individuals from northern European ancestry, but the condition impacts all ethnic backgrounds. CF is due to inherited changes in the CFTR gene.
Spinal muscular atrophy (SMA)
Spinal muscular atrophy is a central nervous system condition that affects all the muscles and nerves in the body, causing degeneration (or loss). The severity can vary among individuals, however the most common type of SMA (type 1) is the most severe and impacts infants. SMA is due to genetic changes in the SMN1 gene.
The American College of Obstetricians and Gynecologists recommends that carrier screening for both CF and SMA be offered to all women who are considering pregnancy or are currently pregnant.
Genes related to your personal or family history
It is important to know as much about your family history as possible, specifically as it relates to birth defects or genetic syndromes. This information can help determine what genetic test is right for you. Also, remember to consider the family health history of you and your partner.
Carrier screening for Fragile X syndrome is recommended for women who have a family history of intellectual disability, as it is one of the most common inherited forms of intellectual disability. Also, women who have premature ovarian failure should consider undergoing carrier screening for Fragile X syndrome.
Carrier screening panels common to your ancestry
If you belong to an ethnic group (for example, African American or Ashkenazi Jewish descent) that has an increased chance of being a carrier of certain genetic conditions, ethnic-specific carrier screening panels can be performed just for those conditions. For example, about 1 in 10 African American individuals are carriers of sickle cell disease. Additionally, about 1 in 6 Ashkenazi Jewish individuals are carriers of a number of specific conditions.
Expanded carrier screening panels
In this kind of testing, many disorders are screened using a single sample, without regard to specific ethnicity. Companies that offer expanded carrier screening create their own lists of disorders that they test for, and usually include hundreds of different severe disorders that affect a person’s quality of life from an early age.
Companies that offer expanded carrier screening create their own lists of disorders that they test for.
What if I get testing done and my results are positive?
If you or your partner is found to be a carrier for a specific condition, the other should be offered testing in order to receive genetic counseling about potential reproductive risks and options. For this scenario, we recommend consulting your doctor.
Are there any other types of genetic tests I should consider?
If you have been struggling with conceiving or maintaining a pregnancy, or have suffered from miscarriage, there are certain genetic tests that you may want to consider. Genetic testing, specifically analysis of the chromosomes from samples collected as part of a pregnancy loss, may be able to determine if the loss was sporadic or inherited.
Depending on the results of the testing performed, additional testing on parents may tell us if the couple has a higher risk of having additional miscarriages. For patients or couples that have had multiple miscarriages, a blood draw to look at chromosomes can determine if an individual is a carrier of a chromosome change that is increasing the risk for miscarriages or affecting the ability to conceive.
In fact, in approximately 2-5% of couples with recurrent miscarriage, a chromosomal translocation is identified in one of the partners. A chromosome translocation occurs when a piece of one chromosome breaks off and switches places with a piece from another chromosome.
When an individual with a translocation attempts to conceive, there is an increased risk for passing on too much or too little chromosomal material, which can lead to an increased risk for miscarriage, stillbirth, or live born children with birth defects, and/or intellectual disability.
If I find out that there are genetic risks for my future offspring, what’s next?
If you or your partner are at risk of having children with specific genetic diseases, we recommend consulting your doctor about the condition itself, inheritance, and various options.
Knowing all this information can give you options for future pregnancies, including:
- In-vitro fertilization (IVF) with preimplantation genetic testing (PGT)
- Use of an egg or sperm donor
- Prenatal testing
- Testing the child after birth and treat the condition then
If you or your partner are at risk of having children with specific genetic diseases, we recommend consulting your doctor about the condition itself, inheritance, and various options.
If I want to get any genetic testing, how do I do it?
One way to undergo genetic testing is to talk to your doctor at your next office visit. Most genetic testing needs to be ordered by a clinician who can manage your results and guide your care.
However, there are a number of ways to access information on genetic testing and to have genetic testing ordered without directly visiting your doctor.
Virtual medical visits are now more readily available and there are companies that employ genetic specialists to guide you in your options. Additionally, since many genetic tests can be performed through a saliva sample or cheek swab, many samples can be conveniently collected while you are at home following your telemedicine consultation.
If you have further questions about genetic testing, we recommend consulting a genetic counselor. Genetic counselors are medical professionals who can guide you through the complex (and often confusing!) world of genetic testing so that you are empowered to make informed decisions for you and your family. Interested in speaking with a genetic counselor? Schedule your session here.
The Genome Care Navigator™ empowers you to be more genetically aware so you can make more informed decisions about your pregnancy journey. Through a self-navigated education session, you’ll gain faster, more direct access to genetic experts, who will assist you in further reviewing genetic testing options.
For a limited time only, Proovers have free access to the Genome Care Navigator™ service through Genome Medical, a national telehealth medical practice focused on genetics.
