By: Ovation Obstetrics & Gynecology:
Pregnancy is a time filled with excitement, anticipation, and many important decisions. One topic that often raises questions for expecting parents is prenatal genetic screening. These screenings are designed to provide information about a baby’s risk for certain genetic conditions, helping families and providers make informed decisions throughout pregnancy.
At Ovation OB/GYN, we believe that understanding your screening options is an essential part of prenatal care. Learning what prenatal genetic screening involves—and what it does and does not tell you—can help you feel more confident and supported as you navigate your pregnancy.
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What Is Prenatal Genetic Screening?
Prenatal genetic screening refers to non-invasive tests performed during pregnancy to assess the likelihood that a baby may have certain genetic or chromosomal conditions. These screenings do not diagnose a condition, but rather estimate risk.
Screening results can help guide decisions about further testing, monitoring, or care planning during pregnancy.
Screening vs. Diagnostic Testing
It is important to understand the difference between screening tests and diagnostic tests:
- Screening tests estimate the chance of a genetic condition
- Diagnostic tests confirm whether a condition is present
Prenatal genetic screening helps identify pregnancies that may benefit from additional diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis.
Common Conditions Screened For
Prenatal genetic screening commonly assesses risk for conditions such as:
- Down syndrome (Trisomy 21)
- Trisomy 18 and Trisomy 13
- Certain sex chromosome conditions
- Neural tube defects (in some screening methods)
The specific conditions screened depend on the type of test performed and individual circumstances.
Types of Prenatal Genetic Screening Tests
Several screening options are available, and your OB/GYN can help determine which may be appropriate for you.
First-Trimester Screening
Typically performed between weeks 10 and 13 of pregnancy, this screening may include:
- Blood tests measuring pregnancy-related hormones
- An ultrasound to assess nuchal translucency
These results are combined to estimate risk for chromosomal conditions.
Second-Trimester Screening
Often referred to as the quad screen, this blood test is usually performed between weeks 15 and 20 and measures four substances in the mother’s blood.
Cell-Free DNA Testing (NIPT)
This blood test analyzes small fragments of fetal DNA circulating in the mother’s bloodstream. It can be performed as early as 10 weeks and is known for its high sensitivity for certain chromosomal conditions.
Who Should Consider Prenatal Genetic Screening?
Prenatal genetic screening is offered to many pregnant individuals, regardless of age or risk factors. However, it may be particularly recommended for those who:
- Are age 35 or older at delivery
- Have a personal or family history of genetic conditions
- Have had abnormal ultrasound findings
- Have had previous pregnancies affected by genetic conditions
Your OB/GYN will discuss your individual risk factors and help you decide whether screening is right for you.
What the Results Mean
Results from prenatal genetic screening are typically reported as low risk or increased risk.
- Low-risk results suggest a lower likelihood of the condition tested
- Increased-risk results indicate a higher chance but do not confirm a diagnosis
If results show increased risk, your provider may recommend genetic counseling or diagnostic testing to gather more definitive information.
Emotional Considerations and Decision-Making
Receiving genetic screening results can be emotionally complex. Some parents find reassurance in low-risk results, while others may feel anxious if increased risk is identified.
It is important to remember that screening is optional. The decision to pursue prenatal genetic screening is personal and should align with your values, needs, and preferences.
At Ovation OB/GYN, we support patients by providing clear explanations, answering questions, and respecting individual choices.
The Role of Genetic Counseling
Genetic counseling may be recommended if screening results are abnormal or if you have known risk factors. A genetic counselor can help:
- Explain test results in detail
- Discuss potential next steps
- Provide support during decision-making
This additional guidance can be especially helpful in navigating complex information.
Benefits of Prenatal Genetic Screening
Prenatal genetic screening offers several potential benefits, including:
- Early identification of potential concerns
- Time to consider further testing or monitoring
- Opportunity to plan for specialized care if needed
- Increased understanding of your pregnancy
Having information early allows families and providers to prepare and respond thoughtfully.
Limitations of Prenatal Genetic Screening
While screening provides valuable information, it is not definitive. Limitations include:
- False-positive or false-negative results
- Inability to detect all genetic conditions
- Need for follow-up testing to confirm results
Understanding these limitations helps set realistic expectations.
A Personalized Approach to Prenatal Care
Every pregnancy is unique, and prenatal genetic screening is just one component of comprehensive prenatal care. Your OB/GYN will help you weigh the benefits and limitations of screening in the context of your individual health and pregnancy goals.
At Ovation OB/GYN, we take a patient-centered approach, ensuring that you receive personalized guidance and compassionate support throughout your prenatal journey.
“My experience with Dr Julie Vu has been exceptional. She demonstrates strong medical knowledge, professionalism, and compassion in every appointment. She takes time to thoroughly explain procedures, discuss concerns, and provide guidance tailored to my health needs. Her approach creates a comfortable and trusting environment, and the overall quality of care is outstanding. I highly recommend her to anyone seeking a reliable and supportive women’s health specialist.”
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Discussing Prenatal Genetic Screening with Your OB/GYN
If you are pregnant or planning to become pregnant, discussing prenatal genetic screening with your OB/GYN can help you understand your options and feel more prepared.
Our team at Ovation OB/GYN is here to answer your questions, explain available screenings, and support you every step of the way.
Schedule Your Prenatal Visit
To learn more about prenatal genetic screening or to schedule a prenatal appointment, visit https://www.ovationobgyn.com/ or contact Ovation OB/GYN today.