Preparing to grow your family involves many steps, and one of the most valuable is preconception genetic testing. This type of screening evaluates whether prospective parents are carriers for certain inherited conditions. These tests provide crucial insight into genetic risks that could impact future children, allowing families to make informed decisions early in the planning process.
Preconception testing is not just for individuals with a known family history of genetic disorders. Many people are silent carriers of genetic conditions without being aware of it. These tests can reveal if both partners carry a mutation for the same condition, which may significantly increase the risk of passing it on to their children. Genetic screening before pregnancy is about empowerment—offering clarity, preparedness, and options.
Why It Matters for Family Planning
The goal of preconception genetic testing is not to alarm but to inform. Understanding your genetic profile can help reduce the risk of inherited disorders, including conditions such as cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy. Identifying these risks beforehand gives couples time to explore their reproductive options in a low-pressure setting.
This foresight can be especially important for couples who may require additional medical support during conception or pregnancy. It also offers peace of mind when results show a low risk of inherited conditions. Whether results are reassuring or indicate elevated risk, they open the door to meaningful conversations with healthcare providers.
Who Should Consider Testing
Preconception genetic testing is widely recommended for all individuals or couples who are thinking about starting a family. While it is often emphasized for those with known risk factors—such as a family history of genetic conditions or belonging to an ethnic group associated with certain disorders—genetic screening can benefit anyone.
The American College of Obstetricians and Gynecologists recommends offering carrier screening to all women, ideally before pregnancy. This timing ensures that couples can take full advantage of available options. At May-Grant OB/GYN, our multiple providers across Lancaster and surrounding locations work with each patient to determine the most appropriate screening panel based on personal and family history.
What Conditions Are Typically Screened
Preconception panels vary in scope, ranging from targeted screening for specific conditions to expanded panels covering hundreds of potential disorders. Some of the more common conditions included in preconception genetic testing are:
- Cystic fibrosis
- Fragile X syndrome
- Spinal muscular atrophy (SMA)
- Tay-Sachs disease
- Sickle cell anemia
- Thalassemias
Each condition varies in severity and inheritance pattern. Some are autosomal recessive, meaning both partners must be carriers for a child to be at risk. Others may be X-linked or follow different genetic rules. Genetic counselors at May-Grant can help interpret results and explain what they mean for your specific situation.
How the Testing Process Works
Preconception genetic testing is straightforward, usually requiring just a blood or saliva sample. Here’s what you can expect:
- Initial Consultation
You’ll discuss your family history and any potential risk factors with a provider. This step helps determine which type of genetic panel may be most appropriate. - Sample Collection
A blood or saliva sample is collected in the office or at home. This is sent to a specialized laboratory for analysis. - Laboratory Analysis
The lab screens your DNA for mutations related to a range of inherited conditions. Depending on the panel, results typically take a few weeks. - Follow-Up and Counseling
When results are ready, your provider will review them with you. If you or your partner is identified as a carrier, you may be referred to a genetic counselor to explore options and next steps.
Testing can be done individually or as a couple, with one partner tested first. If that partner is not a carrier, further testing may not be needed. If a mutation is found, the other partner is then tested for that specific condition.
What to Do If You’re a Carrier
Receiving carrier status doesn’t necessarily mean your child will inherit a condition, but it does mean that careful planning may be needed. If both partners carry mutations for the same recessive condition, they have a 25% chance with each pregnancy of having a child affected by that condition.
In such cases, several options are available. These may include in vitro fertilization (IVF) with preimplantation genetic testing (PGT), using donor eggs or sperm, or planning for specialized care during pregnancy and after birth. Some couples also consider adoption. Genetic counselors at May-Grant can walk you through each of these paths, providing support every step of the way.
Emotional and Ethical Considerations
Deciding to pursue genetic testing can bring up a range of emotions. Some individuals feel empowered by the knowledge, while others may feel anxious or uncertain. It’s important to remember that testing is optional, and you are always in control of your decisions.
At May-Grant OB/GYN, our providers prioritize a compassionate and patient-centered approach. The goal is to provide accurate information in a supportive environment, helping you make choices that reflect your values and family goals. Genetic testing doesn’t dictate your future—it helps illuminate it.
Making Informed Decisions in Lancaster, PA and Beyond
May-Grant OB/GYN has multiple convenient locations throughout Lancaster, PA, and the surrounding communities, making it easy to access comprehensive preconception care. Our providers are experienced in guiding couples through genetic testing, and our collaborative approach ensures you receive well-rounded support at every step.
Whether you’re just starting to think about pregnancy or actively planning, preconception genetic testing is a powerful tool. It helps uncover information you wouldn’t otherwise know and prepares you for a healthier pregnancy journey. Knowledge is not only power—it’s preparation.
5 Common Questions About Preconception Genetic Testing
Is this the same as genetic testing during pregnancy?
No, preconception testing is done before you become pregnant, focusing on inherited conditions rather than developmental abnormalities during pregnancy.
What happens if only one partner is a carrier?
If only one partner is a carrier for a condition that requires both partners to pass it on, the child is not at risk of being affected but could be a carrier.
Is genetic testing covered by insurance?
Coverage varies by provider and test type. Our office can help verify benefits before testing is done.
Do I need to fast or prepare in any way?
No special preparation is needed. It’s a simple saliva or blood test performed in the office.
Will testing reveal if I will develop a disease?
Preconception carrier screening does not test for conditions that might affect your own health, only conditions that could be passed to your children.
Planning for a Healthier Future
Taking this step before pregnancy shows a deep commitment to your future family’s well-being. With the guidance of trusted professionals at May-Grant OB/GYN, you can approach your pregnancy journey with clarity and confidence.
Genetic testing isn’t about controlling nature—it’s about partnering with it. By understanding your unique genetic makeup, you gain the tools to make thoughtful, informed choices. Whether your results lead to reassurance or a deeper conversation, our team is here to guide and support you every step of the way.
Resources:
ACOG Committee Opinion No. 690 (2017). Carrier Screening in the Age of Genomic Medicine. Obstetrics & Gynecology.
Grody, W. W., Thompson, B. H., Gregg, A. R. (2013). ACMG position statement on prenatal/preconception expanded carrier screening. Genetics in Medicine.
Ross, L. F., Saal, H. M., David, K. L., Anderson, R. R. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics.
