Dr. Ghazal is a double board certified fertility specialist, a Southern California native and an award-winning top doctor.
Sanaz Ghazal, M.D., F.A.C.O.G. Fertility / Reproductive Health / Obstetrics and Gynecology Updated: Aug 21, 2023, 3:31pm Have a question we may not have answered?Ask our editors here
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Preconception testing, or genetic testing before pregnancy, involves screening parents for genetic disorders or abnormalities before trying to conceive. This can help people feel more informed about their own health history before making the choice to have a child.
After reviewing the results, doctors can help people identify fertility issues or potential health concerns before trying to conceive.
Here’s what you need to know about genetic testing before pregnancy, from the types of testing available to the costs involved.
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Genetic testing is “very helpful for family planning, particularly in cases where you pick up genetic mutations you didn’t know existed,” says Debbra Keegan, M.D., an OB-GYN and the clinical director of third party reproduction for the Institute for Reproductive Medicine and Science in New Jersey.
Genetic testing, also known as carrier screening, is a test that can identify whether a person carries a gene for specific genetic disorders. There are two types of carrier screening—targeted and expanded. Targeted carrier screening involves testing for genetic disorders based on a person’s family history or ethnicity. In this case, blood, saliva or tissue samples are taken to look for certain conditions that may run in a person’s family. Expanded carrier screening involves testing for multiple genetic disorders regardless of ethnicity or family history.
Doctors may utilize their own screening panel, which often includes the most severe disorders that people would want to be aware of. Expanded screening is also done using a simple blood or saliva test, but has the capability of identifying hundreds of various disorders.
Upon receiving results, individuals will learn whether they carry an abnormal gene for a certain disorder or condition. Babies receive two copies of each gene—one from each parent—and if both copies for the specific condition do not work properly, the baby will inherit the condition. This is why parents can be carriers of a disorder without actually having the disorder themselves. If one parent is tested and identified as a carrier for a condition, the other parent is then tested to see if they are also a carrier. Reviewing the results with your doctor can help you to determine the best steps moving forward in trying to conceive.
The American College of Obstetricians and Gynecologists (ACOG) recommends carrier screenings for anyone who is planning to become pregnant or is currently pregnant. Ideally, testing should be done before conception so parents are aware of the risk of passing genetic conditions to their children. Although genetic testing cannot identify every possible issue, the goal is to provide people with enough information to make a decision about conception or pregnancy management.
Individuals have the right to meet with their doctor and explore their options before deciding to pursue genetic testing, says Alan Martinez, M.D., an OB-GYN and reproductive endocrinology and infertility specialist at the Reproductive Science Center of New Jersey. “Some patients may not believe it is right for them and may not want the information,” he explains. “Although [genetic testing] might be offered or recommended, the patients have the right to leave whatever happens up to chance.”
“We can now screen for over 500 different types of [disorders] depending on the company or test you are using,” says Dr. Keegan. “This gives us the opportunity to prevent the transmission of inherited genetic disorders through the technology available and a simple blood test.”
The ACOG recommends considering family history and ethnicity, in addition to the most common genetic conditions, when deciding which mutations to include. Parents may also benefit from genetic counseling, which is a service that helps people understand the results of their tests and make informed decisions throughout the process.
Here are some of the most common conditions identified through genetic carrier screening:
There are currently almost 40,000 children and adults living with cystic fibrosis in the U.S [1] About Cystic Fibrosis. Cystic Fibrosis Foundation. Accessed 8/25/2022. . Cystic fibrosis is a disease that affects the lungs, pancreas and other organs. People who have cystic fibrosis have difficulties breathing. The mutation involved with cystic fibrosis causes a protein to not function correctly, which then causes mucus buildup in multiple organs throughout the body.
About 1 in 7,000 males and about 1 in 11,000 females have fragile X syndrome, the most common cause of inherited intellectual disability [2] Data and Statistics on Fragile X Syndrome. Centers for Disease Control and Prevention. Accessed 8/25/2022. . Fragile X is associated with lower than average IQ, developmental delays and other co-occurring health conditions including seizures, autism, hyperactivity, attention difficulties and more.
One in every 6,000 babies is born with spinal muscular atrophy, or SMA, which is a group of genetic disorders that cause a weakening of the muscles [3] Spinal Muscular Atrophy. Johns Hopkins Medicine. Accessed 8/25/2022. . Symptoms may vary, but people with SMA may require physical and occupational therapy, support devices such as wheelchairs or assistance with breathing. Symptoms generally worsen over time and there is no cure.
Although anyone can be a carrier, Tay-Sachs disease is more common for people of Ashkenazi Jewish ancestry, as one in every 27 members of the population is a carrier for the disease [4] Tay-Sachs Disease. Mount Sinai. Accessed 8/25/2022. . Symptoms may include deafness, blindness, seizures, decreased muscle tone, dementia and others.
It is estimated that approximately 100,000 people in the U.S. have sickle cell disease [5] Sickle Cell Disease. Centers for Disease Control and Prevention. Accessed 8/25/2022. . This inherited condition is most common in Black or African American people but can affect any race. Sickle cell disease includes a group of red blood cell disorders that can cause acute chest syndrome, anemia, blood clots or infections.
Those who are thinking about trying to conceive, are currently pregnant or have experienced difficulties trying to conceive should ask their doctor about genetic carrier testing. Doctors may also recommend testing if the individual has had more than one miscarriage, a previous pregnancy or child with an inherited condition or the loss of a baby before one year of age.
If you have a family history of certain health issues, genetic carrier testing may also help you to identify the potential risks associated with passing a certain condition to a child.
“Just because a couple has healthy children doesn’t mean they shouldn’t elect to do [genetic testing] in the future,” says Dr. Martinez.
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The cost of DNA analysis has decreased in recent years, as technology utilized for genetic testing has become more advanced. Instead of conducting multiple separate tests, genetic testing can now be performed with a single blood or saliva test.
Genetic carrier screening can cost between $100 and $2,000 depending on the type of testing being performed. Testing may be covered by your insurance if the tests are recommended by your physician, but if you have questions, it’s best to contact your insurance company to see what your plan might cover.
“It does depend on the insurance, but typically the routine, recommended screening is covered in women who are either pregnant or trying to get pregnant,” says Dr. Keegan.
If test results come back positive for certain genetic conditions, prospective parents can analyze the results with their doctor and identify the risks of passing them on. Genetic counselors can also review results with people and assist them in exploring their options, if necessary. Individuals can then decide whether they would like to undergo the in vitro fertilization (IVF) process to ensure certain inherited conditions are not passed onto their children.
If parents decide to pursue IVF, they have the option of undergoing pre-implantation genetic testing (PGT). “Testing is applied to cells that are removed from the embryos,” explains Dr. Keegan. “With various genetic platforms, they can tell us what the status of the embryo is. The patient can then undergo an embryo transfer of the unaffected or potential donor embryo.” This ensures the fetus does not carry the unwanted genetic condition.
For some parents, a donor gamete—an egg or sperm cell—can be utilized if test results and personal choice deem it a viable option. “Patients will already have genetic information of the gamete when they go to make the purchase so they can make sure they are also negative for any mutations,” says Dr. Martinez. Same-sex couples, people who have had cancer or radiation or lower quality eggs may choose this option.
If you are interested in learning more about your personal genetic information, it is important to speak with your general practitioner, reproductive endocrinologist or OB-GYN. Your doctor can review your specific situation and recommend the next steps.
