Genetic Testing Can Help You Make Informed Decisions

Pregnancy comes with many questions, especially when it comes to your baby’s health and development. Genetic testing during pregnancy can provide helpful information about certain inherited conditions or chromosomal differences. At our office, we guide patients through their options so they can feel informed, supported, and confident in their prenatal care decisions.
 

Screening Tests Vs. Diagnostic Tests

One of the first things to understand is the difference between genetic screening and diagnostic testing. Screening tests estimate the chance that a baby may have certain genetic or chromosomal conditions. These tests do not give a definite diagnosis, but they can help determine whether additional testing may be recommended.
 

Diagnostic tests, such as chorionic villus sampling or amniocentesis, can provide more definitive answers. These tests are more involved, so we discuss the benefits, limitations, and risks before helping patients decide if they are appropriate.
 

Common Genetic Testing Options During Pregnancy

Several types of prenatal genetic testing may be discussed during pregnancy depending on your health history, age, family history, and personal preferences. Options may include:

• Carrier screening to see if parents carry genes for certain inherited conditions
• Noninvasive prenatal testing, also called NIPT, to screen for certain chromosomal conditions
• First trimester screening or second trimester screening
• Diagnostic testing such as CVS or amniocentesis when more information is needed

Not every patient needs every test. Our goal is to help you understand which options fit your pregnancy and your comfort level.
 

What NIPT Can Tell You

Noninvasive prenatal testing is a blood test that screens for certain chromosomal conditions, including Down syndrome. It can be done relatively early in pregnancy and does not pose a direct risk to the baby. While NIPT is highly useful as a screening tool, it is still not considered a diagnostic test. If results show an increased risk, we may recommend further evaluation or diagnostic testing.
 

Why Family History Matters

Your personal and family health history can play an important role in genetic testing recommendations. Conditions that run in families, previous pregnancy complications, ethnic background, and known inherited disorders may all influence which tests are most helpful. During prenatal visits, we take time to review this information and explain what it may mean for your pregnancy care.
 

Support Throughout The Process

Genetic testing can bring reassurance, but it can also bring emotional questions. We believe patients should never feel rushed or overwhelmed when making decisions about prenatal testing. We explain results clearly, answer questions, and help coordinate next steps when additional care or referrals are needed.
 

For personalized prenatal care and guidance on genetic testing options during pregnancy, contact Katie Ostrom MD, LLC in Homer, AK by calling (907) 435-0555.