The Importance of Genetic Screening

Women’s Care genetic counselor, Devin Fendlay, is passionate about educating patients on the importance of genetic screening. Here she provides recommendations and tackles some common patient misconceptions about genetic screening.

pregnant woman holding her stomach at the doctor's seeking morning sickness relief

Myth

The time to request genetic screening is once I am pregnant.

Truth

Although some genetic screening, such as screening for Down syndrome, can only be performed once you are already pregnant, other genetic screening can be done as soon as you decide that you are ready to start trying to conceive. General carrier screening is nationally recommended for the following genetic disorders:

Cystic Fibrosis – a genetic condition affecting the lungs that is life limiting and requires extensive medical care throughout the life.
Typically, mom and dad need to be carriers to affect baby.

Spinal Muscular Atrophy – Used to be the most common form of inherited infant death; however, new treatments are available that are best when started right after birth. Knowing that your baby is going to have this condition ahead of time can help you prepare for these necessary treatments.
Typically, mom and dad need to be carriers to affect baby.

Fragile X Syndrome – the leading inherited cause of autism and intellectual disability in males.
Only mom needs to be a carrier to affect baby. If you are a carrier, it does not mean all your children will be affected; however, there will be an increased risk

Larger testing panels are also available and offered by your Women’s Care provider. Larger panels are a great option for couples who want as much information as possible to prepare for parenthood. Larger panels may also be recommended based on your ancestry. For example, individuals with Ashkenazi Jewish ancestry are at higher risk to be a carrier for certain genetic disorders, so they should discuss the option of a larger panel with their provider.

Myth

Genetic carrier screening does not matter to me because I will continue my pregnancy as planned regardless of the results.

Truth

Genetic carrier screening is very important to help you create a treatment plan if your child is going to have special medical needs once they are born. Many couples who have children with special medical needs wish that they had known ahead of time so that they could better prepare both financially and emotionally prior to delivery.

When this information is known prior to conception, you may also decide to consider alternative options for family planning, such as in-vitro fertilization, adoption, or using a sperm or egg donor.

Myth

I do not need genetic carrier screening because I do not have a family history of genetic disorders.

Truth

Family history is rarely relevant or expected with genetic carrier screening. Most genetic disorders that are screened though a carrier screening panel are “hidden” in your genes as being a carrier does not cause health problems for you or your family members. Most couples who have a child with one of the genetic conditions screened through these panels had no family history of the genetic condition.

Your Women’s Care provider will review genetic screening options with you during your initial OB consultation. Most insurances offer genetic screening as a covered service. Our goal is to help you understand your options and answer any questions you may have.

Learn more about Prenatal Genetic Counseling from Women’s Care.

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