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Family Genetic Services

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Carrier Screening is Family Screening is Peace of Mind

Carrier screening is a type of genetic testing used to assess genetic risks to a patient or couple’s offspring that might not be evident from personal or family history alone. Genes are the instructions within our cells responsible for making our bodies function properly. Humans have two copies of each gene – one inherited from each biological parent. If a gene is no longer functioning correctly due to harmful changes, a genetic condition may result.

At Southern California Fertility Center in La Jolla, under the leadership of Dr. Nastaran Foyouzi, one of the world’s leading experts in reprodcutvie genetics, we offer comprehensive carrier screening services. Dr. Foyouzi’s experienced genetics team, comprised of top embryologists and genetic counselors, ensures that each test is conducted with precision and care.

How Carrier Screening Works

Carrier screening primarily looks for recessive disorders, where both copies of a gene (one from each parent) must be non-functional for an individual to exhibit symptoms. Common recessive genetic conditions include:
  • Cystic Fibrosis
  • Tay Sachs
  • Sickle Cell Anemia
In X-linked conditions, which are carried by females (individuals with two X chromosomes), 50% of sons who have only one X chromosome will be affected and therefore, sons will show the symptoms of the disease, and all girls will be a carrier of the disease. In most cases offspring girls are asymptomatic however, in some cases they may show a milder sign of the disease as well. Since the inheritance of the disease does not always follow the Mendelian rules counseling and having an expert in genetic diseases like Dr. Foyouzi who has knowledge of reproductive genetics is very important.
benefits-of-carrier-screening

Benefits of Carrier Screening

Carrier screening is an optional test to learn whether someone carries a genetic mutation that could increase the risk for an inherited condition in a biological child. Although carriers can pass on a condition, most do not experience symptoms of that condition. 80% of families with an affected child do not have any family history of a genetic disease. Carrier screening and counseling ideally should be performed before pregnancy. 
 
Knowledge about the risk of an affected future pregnancy or kids may provide some benefits to the couple with regards to their reproductive options including preimplantation genetic testing via IVF to transfer unaffected embryos, termination of pregnancy if declined IVF with PGT or even getting ready with regards to required resources that affected child may need in future. 
 
Majority of expanded carrier screening will test for over 100 diseases that some of them may not have any readily available to treat therefore couple will face with the challenge of having their loved one suffers from the uncurable disease or some may have a simple treatment starting at birth to prevent from consequences of the malfunctional gene like biotiniadase deficiency if couple knew their risks before pregnancy.
 
Carrier screening for a particular condition generally should be performed only once in a person’s lifetime, and the results should be documented in the patient’s health record. Because of the rapid evolution of genetic testing, additional mutations may be included in newer screening panels. The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations.

What Kind of Results Might I Receive?

When screened for a large group of conditions, more than half of people find out they carry at least one genetic condition.
  • Positive: A positive result means you are a carrier for the specific condition or conditions listed. Because most conditions are recessive (expressed only when inherited from both biological parents), knowing the carrier status of both biological parents is important for estimating the chance of the condition occurring in a pregnancy.
  • Negative: A negative result means you were not found to be a carrier for the specific condition or conditions listed. There is a small chance that someone with a negative test result could still be a carrier, because screening doesn't detect all carriers.

Alternative Options

If both partners are found to be carriers of the same disease, or if a female is a carrier for an X-linked disease, IVF with pre-implantation genetic testing (PGT) can be used. PGT allows the screening of embryos to determine if they are affected by the genetic disorder before attempting pregnancy. Only embryos not affected by the condition are transferred to the uterus to attempt pregnancy. If a couple chooses not to undergo IVF with PGT, knowing about the increased risk of having a child with a genetic condition can still be valuable. This knowledge can guide decisions about additional prenatal testing and help with reproductive choices of termination or prepare for an appropriate pediatric care team for after the baby is born.

Dr Nastaran Foyouzi_MD_FACOG_FACMG

Dr. Foyouzi's Expertise

Dr. Foyouzi and her team of reproductive geneticist, embryologists, and genetic counselors are dedicated to providing the highest level of care. Their extensive expertise ensures that patients receive accurate information and compassionate support throughout their fertility journey.

Contact Southern California Fertility Center in La Jolla to learn more about our carrier screening services and how Dr. Foyouzi’s team can assist you in making informed decisions about your family’s genetic health.

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