Genetic Testing Can Protect Your Future Family
Genetic testing can be a very helpful informational tool for couples who want to start their families, particularly if they have had recurrent miscarriages, pregnancy losses or failed IVF transfers. Testing also should be considered by couples with a family history that puts their child at risk for genetic diseases.
Our ArkLaTex regional fertility center recommends that all couples and individuals be informed about and consider undergoing genetic carrier screening before they conceive. Our IVF patients can also choose to have preimplantation genetic testing of their embryos, which helps some couples select the healthiest embryo for transfer.
Importantly, it always remains a couple’s choice as to whether they want preconception carrier screening, and whether they want routine embryo aneuploidy screening for chromosome abnormalities or testing for single gene disorders, such as cystic fibrosis. At ArkLaTex Fertility, we provide detailed information about available genetic tests and discuss the options with patients, allowing them to make their best decision about whether to choose genetic testing and/or embryo testing as part of their fertility treatment.
Preconception carrier screening
Before couples conceive, both partners should be informed about and consider having preconception carrier screening to find out if they are carriers for any genetic conditions. Genetic screening is also important for single individuals or LGBTQIA+ couples trying to conceive, however, most commercial sperm banks do some carrier screening on their sperm donors. ArkLaTex Fertility will discuss the pros and cons of testing with you.
There are two different types of recessive genetic conditions that can cause genetic disorders in children.
- Autosomal recessive conditions. If a man or woman has one copy of a mutated gene for a disease, he or she is a carrier. If their partner is also a carrier, they have a 25% chance of passing on that genetic mutation to their child. Cystic fibrosis and sickle cell disease are common examples of autosomal recessive conditions.
- X-linked recessive genetic conditions. The gene that causes an X-linked condition resides on the X chromosome. Men have one X and one Y chromosome. Women have two X chromosomes. If a woman has a mutation on her disease-causing X chromosome, she is a carrier. If a man has a mutation on his X disease-causing chromosome, he will have the disease. Usually, women may test for carrying this type of genetic condition because they have a 50% chance of passing on the genetic disease if they are carriers. Some X-linked conditions are Duchenne muscular dystrophy and hemophilia type A.
Preimplantation genetic testing, or PGT
At our ArkLaTex regional fertility center, we recommend certain patients consider PGT as part of their fertility treatment plan.
- Women who are older than age 35
- Those who have experienced recurrent failed IVF attempts or miscarriage
- Couples who have a family history that might indicate the presence of genetic diseases
There are several different types of PGT. The two most common types are PGT-A and PGT-M. Embryologists perform PGT-A to test embryos for aneuploidy, which means that there is a missing or an extra chromosome, which causes conditions such as Down syndrome. They use PGT-M to test for single-gene disorders caused by a mutation that affects a specific gene. Examples include cystic fibrosis and Fragile X syndrome.
Additional genetic testing
Our fertility team may recommend additional types of genetic testing for the couple, based on a patient’s individual needs and medical history. There are several options that can provide more information and help us choose the best fertility care for each situation.
- Karyotype testing can determine how many chromosomes a patient has and the structure of those chromosomes.
- Other advanced types of PGT can pinpoint the risk of passing on a genetic condition or chromosome problem to future children.
- Our team may recommend the Y-chromosome microdeletion test for men with azoospermia (no sperm).
We offer comprehensive fertility care at our ArkLaTex regional fertility center
Our fertility team has helped thousands of couples living in Arkansas, Louisiana, Texas and beyond build their families. Contact us for an appointment.