Should You Get Genetic Screening Before Pregnancy?

Advances in genetic testing, including expanded screening panels, have made testing more accessible and informative than ever before. Understanding genetic testing can help people make informed decisions. It can also help them feel more confident about next steps.

Learn how genetic testing works, who may benefit and what the results can tell you.

What Is Genetic Testing for Family Planning?

Genetic testing for family planning looks for gene changes that could increase the risk of passing certain inherited conditions to a child. The most common type of testing used is called carrier screening. It involves a simple blood test, saliva test or cheek swab to see whether someone carries a gene change or mutation linked to a genetic condition.

Most people who carry a change in a gene for an inherited condition are healthy and have no symptoms.

If only one biological parent is a carrier, a child is unlikely to be affected. Typically, risk becomes more relevant if test results show that both biological parents carry the same gene change.

“If both parents carry the same gene change, there is a one‑in‑four chance that a child could inherit that condition,” says Dr. Wagner.

Today’s genetic screening can check for many inherited conditions at the same time. This makes it easier to spot potential risks, especially for people who don’t know their full family medical history.

Having this information doesn’t mean decisions have to be made right away. Instead, it can help guide thoughtful family planning and conversations with your healthcare team.

“It used to be that only specific people were tested for certain gene mutations based on risk,” says Dr. Wagner. “Now, we can do an elective carrier screening for anyone, which covers 267 genetic conditions.”

Types of Genetic Conditions Included in Carrier Screening

Carrier screening focuses on serious inherited conditions that can affect a child’s health, often beginning in infancy or early childhood.

Commonly screened conditions include:

• Cystic fibrosis, which affects breathing and digestion
• Spinal muscular atrophy, which affects muscle strength and movement
• Sickle cell disease, a blood disorder that causes the body to make abnormal hemoglobin (the protein in red blood cells that carries oxygen throughout the body)
• Tay-Sachs disease, which affects the nervous system
• Thalassemia, a group of inherited blood conditions
• Fragile X syndrome, which can affect learning and development

Carrier screening may also help identify genetic links to other conditions that can run in families, such as certain:

• Muscle and nerve conditions like muscular dystrophy 
• Metabolic conditions like phenylketonuria (PKU), which can cause brain damage and severe intellectual disability if untreated
• Structural or developmental differences like congenital heart disease

How Genetic Testing Can Help

Genetic testing does not screen for every possible condition. Instead, it focuses on the genetic disorders most likely to cause serious health concerns. The goal is not to predict everything that could happen, but to provide useful information that can support informed family‑planning decisions.

Results are typically reviewed with a genetic counselor as part of a genetic counseling appointment. This appointment focuses on education, clarity and support — not pressure or decision‑making. These conversations help explain what results mean and what options may be available.

A genetic counselor can help explain:

• Which conditions are included in screening
• What results mean
• Whether additional testing may be helpful based on personal or family history

Who Should Consider Genetic Testing and When?

Genetic testing can be helpful for many people who are thinking about starting or growing a family. The American College of Obstetricians and Gynecologists supports offering carrier screening to people who are planning a pregnancy or who are already pregnant.

“I advocate for everyone in the family planning or preconception phase to have elective carrier screening,” says Dr. Wagner. “It’s possible that you may not know your full family history.”

Genetic testing may be especially helpful for people who:

• Are actively planning a pregnancy
• Have a known family history of inherited conditions
• Have experienced miscarriages or unexplained infertility
  

“Results can offer the most flexibility for planning when carrier screening is done in the preconception period or pregnancy planning phase,” says Dr. Wagner. “You can also do it at any time during pregnancy.”

Preconception vs. prenatal genetic testing

When you decide to do genetic testing depends on your goals and where you are in the family-planning process.

• Preconception genetic testing is done before pregnancy. It helps identify genetic risks early, which can be useful when planning next steps or considering all available options.
• Prenatal genetic testing is done during pregnancy. It looks at whether a developing fetus may have inherited a specific genetic condition.

How Can Genetic Testing Affect Fertility Treatment Options

Genetic testing can play an important role in family‑building decisions for individuals or couples undergoing fertility treatment.

If both biological parents carry the same gene linked to an inherited condition, available options include:

• Using in vitro fertilization (IVF) with embryo testing, which allows embryos to be screened before transfer
• Selecting embryos that do not carry the condition, when possible
• Exploring donor options, such as donor eggs or sperm, depending on personal preferences and circumstances

In some cases, fertility treatment may combine IVF with genetic testing of embryos before transfer. These tools are designed to support informed decision‑making — not limit choices. A fertility specialist and genetic counselor can help review what options may fit best with your goals.

What Are the Limitations of Genetic Testing?

While genetic testing provides helpful information, it does have limits.

Genetic testing cannot:

• Predict every possible genetic condition
• Guarantee a healthy pregnancy
• Identify all rare or newly discovered gene changes

A negative result can lower concern for those conditions, but it doesn’t eliminate all risk.

Why Genetic Testing Can Bring Some Peace of Mind

Many people worry that genetic testing will bring unexpected or overwhelming news. “Most of the time, we’re sharing reassuring information,” says Dr. Wagner. “The three words that come up the most during my visits with patients are ‘peace of mind.’”

Genetic testing is about preparation — not prediction. It helps people understand potential risks so they can plan thoughtfully, rather than worry about unknowns.

For many people, genetic testing for family planning helps replace uncertainty with understanding. Whether results are reassuring or point to something to plan for, having this information can support a clearer path forward.