Prenatal genetic testing pros and cons: What expectant parents should know

Without prenatal genetic testing, you may remain in the dark about potential inherited conditions, chromosomal abnormalities, or other genetic risks. This lack of information can make it harder to plan for medical care, early interventions, or even make informed decisions about your pregnancy.

Prenatal genetic testing gives you clarity by identifying potential genetic issues early. It helps you make informed choices about medical care, prepare emotionally and financially, and explore all available options.

This guide breaks down the prenatal genetic testing pros and cons to help you navigate one of the most personal decisions of your pregnancy.

Types of prenatal genetic testing

Prenatal genetic tests can help you identify a range of conditions, from common chromosomal disorders to inherited diseases. The tests are divided into two categories:

1. Screening tests: These are non-invasive tests that assess the risk of certain genetic conditions but don’t provide a definitive diagnosis.

2. Diagnostic tests: These are more invasive tests that confirm the presence of a genetic condition with high accuracy.

Understanding these differences can help you choose the most suitable testing option. Here’s an overview of the main types of prenatal genetic testing you can consider and what each test screens for:

While these tests offer valuable insights, choosing to undergo prenatal screening involves weighing benefits against emotional and medical considerations. Let’s explore the pros and cons to help guide that decision. 

5 pros of prenatal genetic testing

Source: Nataliya Vaitkevich

Prenatal genetic testing offers several advantages that can help you on your journey toward having a smoother pregnancy and childbirth, including:

1. Detecting genetic conditions early

2. Enabling informed decision-making

3. Offering non-invasive testing options

4. Reducing anxiety

5. Providing access to genetic counseling 

1. Detecting genetic conditions early

Prenatal genetic testing plays a vital role in detecting conditions like Down syndrome, cystic fibrosis, Tay-Sachs disease, and spina bifida. This early detection — often during the first or second trimester — allows you and your healthcare providers to plan and prepare more effectively.

For example, in cases where spina bifida is diagnosed early, prenatal surgery can be performed before birth. A 2011 study published in the New England Journal of Medicine found that babies who underwent fetal surgery for spina bifida had improved motor function at 30 months compared to those who had postnatal surgery.

Early detection can also guide where the baby should be delivered to ensure immediate specialized care. 

2. Enabling informed decision-making

Some parents may use these results to determine whether they’re ready to raise a child with special needs or consider other options based on their values and circumstances.

One Reddit user shared their experience, explaining that they would have considered termination for medical reasons if a genetic abnormality was found:

[Reddit](https://www.reddit.com/r/BabyBumps/comments/186m71e/comment/kb8xnwa/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)(305)

Other practical ways prenatal testing supports decision-making include:

• Reviewing treatment options early: Some conditions are treatable in utero or shortly after birth.

• Understanding insurance coverage: Parents can proactively explore coverage for potential procedures or therapies.

• Financial preparation: Knowing what to expect allows families to budget for added care needs or time off work.

• Emotional readiness: Having time to process and plan can ease anxiety and reduce feelings of helplessness.

3. Offering non-invasive testing options

NIPT tests like cell-free DNA (cfDNA) screening have revolutionized prenatal care. With a simple blood draw from the mother, providers can screen for common chromosomal conditions with over 99% accuracy for certain conditions.

Compared to procedures like amniocentesis or CVS — which involve inserting a needle into the uterus and carry a small risk of miscarriage — NIPT offers peace of mind with virtually no risk to your baby.

According to the American College of Obstetricians and Gynecologists (ACOG), NIPT is now recommended for all pregnancies, not just those considered high-risk. This shift reflects both its accuracy and growing accessibility.  

4. Reducing anxiety

For many expectant parents, prenatal testing can initially evoke stress or uncertainty. However, the clarity these tests provide may transform your anxiety into reassurance, offering emotional grounding and a sense of control.

A study found that women with both high-risk and low-risk results from combined first-trimester screening experienced significantly lower anxiety levels after receiving normal NIPT results compared to their anxiety levels at the time of intake. Most women (80.9%) felt reassured after receiving a normal NIPT result. 

Even in cases where results reveal a condition, early knowledge can empower you to take actionable steps. It provides you with opportunities to connect with support groups, consult specialists, and make informed decisions about care and preparation.

5. Providing access to genetic counseling 

Genetic counseling offers personalized guidance, especially if you have a complex medical history or fall into high-risk groups. Counselors can help you understand test results, explain possible next steps, and provide emotional support during difficult conversations.

Genetic counseling is especially recommended for:

• Women over 35 (increased risk of genetic issues)

• Families with a history of inherited conditions or birth defects

• Couples with previous miscarriages or stillbirths

• Parents who are known carriers of genetic mutations

• Individuals from populations with a higher incidence of certain conditions (e.g., Ashkenazi Jewish, African, Mediterranean descent)

• Couples with close familial ties

• Positive results from a genetic carrier screening test

4 cons of prenatal genetic testing

Source: Nataliya Vaitkevich

While prenatal genetic testing provides valuable information, there are several potential drawbacks you should consider carefully, including:

1. Emotional stress and anxiety

2. Potential inaccuracies

3. Invasive nature of testing

4. Cost and insurance concerns

1. Emotional stress and anxiety

Prenatal genetic testing can cause emotional stress and anxiety, especially if you’re at a higher risk of chromosomal abnormalities.

Some studies indicate that women undergoing these diagnostic procedures often experience increased psychological distress. In rare cases, this heightened anxiety may affect how early parents begin bonding with their unborn child, due to uncertainty about the outcome. 

Fortunately, while these emotional experiences are valid, serious complications are statistically rare. Social media and the Internet often present a skewed perspective of pregnancy. Online spaces tend to amplify stories of failure, making complications seem far more common than they actually are.

Here’s how one Reddit user described their experience with overcoming anxiety:

[Reddit](https://www.reddit.com/r/BabyBumps/comments/162c09o/comment/jxy98vp/)(500)

2. Potential inaccuracies

Source: Nataliya Vaitkevich

Before undergoing any test, it’s essential to understand its strengths and limitations and set realistic expectations. Popular prenatal genetic tests, such as NIPT, are highly accurate. For example, NIPT is around 99% accurate for detecting Down syndrome and only slightly less accurate for other trisomies.

In rare cases, inaccuracies such as false positives and false negatives can happen. A false positive indicates a genetic condition that isn't actually present, which can cause unnecessary stress and may lead to invasive follow-up procedures.

Conversely, a false negative may provide false reassurance and delay crucial medical interventions, though this outcome is extremely rare, occurring in only 0.02–0.26% of cases. 

It’s also worth noting that prenatal tests like NIPT are designed to be highly sensitive and tend to overestimate the positive values to avoid missing any potential cases. Therefore, a positive result only indicates an increased risk, not a definitive diagnosis, and always requires confirmation through additional testing.

A negative result, however, is highly reliable and almost certainly truly negative.

[Reddit](https://www.reddit.com/r/BabyBumps/comments/salszg/comment/htukn7f/)(900)

3. Invasive nature of testing

Source: fernandozhiminaicela

Certain prenatal genetic tests, like amniocentesis and CVS, are considered invasive and may carry a small risk of complications. Naturally, this can feel unsettling to expectant parents, even though the likelihood is quite low.

For example, the chance of miscarriage with amniocentesis is extremely low, estimated at around 0.1% to 0.3%, but it’s understandable that even a small risk can feel significant to expectant parents. Similarly, the risk of infection is minimal (less than 0.1%) and is typically well-managed with standard medical precautions and follow-up care. 

Some women may also find these procedures physically uncomfortable or emotionally draining, but medical teams are trained to offer support and help minimize distress throughout the experience. As one Reddit user shared:

[Reddit](https://www.reddit.com/r/NIPT/comments/1c6f03r/comment/l01iq5o/)(285)

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  "cta":{
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4. Cost and insurance concerns

Source: stevepb

The cost of prenatal genetic testing can vary significantly, depending on the scope and your healthcare provider. Many insurance plans offer some level of coverage but may not cover the full expense, which can lead to unexpected out-of-pocket costs. While these financial considerations can limit access to prenatal genetic testing for some individuals, there are things you can do to avoid unpleasant surprises and ensure transparent pricing.

One tip often shared by parents who have undergone genetic testing is to contact the testing company directly and ask about a self-pay option. Many popular providers, such as Natera, cap out-of-pocket costs at around $300, which is often significantly less than going through insurance, especially for individuals with high deductible plans. 

For many families, the peace of mind that comes with having more information about their baby is worth the cost. With some research and planning, you can access these services without financial strain, as this Reddit comment illustrates:

[Reddit](https://www.reddit.com/r/BabyBumps/comments/18rq3r1/comment/kf2zr85/)(380)

Should you get a prenatal genetic test?

Prenatal genetic tests are crucial in checking for specific conditions during pregnancy, as they typically screen for a small set of common conditions and focus on the baby’s development. You’ll benefit from getting one if you fall into groups with an increased risk.

However, if you want to get more comprehensive insights before or during pregnancy, you should also consider carrier screening.

Carrier screening analyzes your DNA to identify whether you carry genetic variants that could be passed down to your offspring. This is especially valuable for conditions not covered by standard prenatal panels. This way, you could get more time, open additional choices, and gain clarity. 

Whole-genome sequencing (WGS) is the most advanced type of carrier screening. Instead of examining a limited set of genes, a service like Nucleus Family uses whole-genome sequencing to provide a comprehensive view of your entire genetic code, offering a more complete picture of inherited risks for prospective parents. 

It analyzes over 900 genetic conditions, allowing you to learn if you carry genes for conditions that could be passed down to your children. This can be especially important for families with a history of genetic disorders or for those who wish to understand all possible risks.

Nucleus Family: A proactive step toward informed family planning

Nucleus Family provides an advanced approach to prenatal genetic testing. It offers clinical-grade results with 99.9% accuracy, allowing couples to assess the genetic risks they may pass on to their children, supporting more informed family planning decisions.

[X](https://x.com/nucleusgenomics/status/1890117713399542165)(780)

Both partners can undergo testing, providing a combined risk assessment for inherited conditions. This comprehensive approach helps you understand the genetic factors that could affect your children's health. The process is non-invasive, and samples are collected using cheek swabs.

Nucleus Family helps assess your future children’s risk for genetic conditions by screening for over 900 diseases and conditions, including:

• Hormone health

• Heart conditions

• Mental health disorders

• Muscular diseases

• Hair and skin conditions

• Cancer

The results are easy to understand, with clear language and visual aids to simplify complex genetic data. You’ll also have access to board-certified genetic counselors for personalized guidance. Nucleus further enhances the experience by integrating AI-powered insights, giving you a deeper understanding of your genetic makeup.

How to start with Nucleus Family

At just [PRICE.KIT_SOLO.ONE], Nucleus offers all materials for sample collection, two-way shipping, and access to comprehensive health and trait reports. You can also pay using your HSA or FSA plan and reduce out-of-pocket costs.

To order the Nucleus Family kit:

1. Sign up for Nucleus Family

2. Provide your personal information

3. Place your order

You can get kits for you and your partner at a discounted price of [PRICE.KIT_SOLO.TWO].

Once the lab receives your sample, your results will be available online within 6–8 weeks. You will receive updated reports as Nucleus expands its database and uncovers new insights.

Nucleus is also HIPAA-compliant and works with CAP-CLIA-certified laboratories, ensuring the security of your data and integrity of testing.

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Featured image source: MART PRODUCTION