Preconception genetic testing: A guide to informed family planning

When you’re planning for a family, it’s natural to feel a mix of excitement and uncertainty. Fortunately, recent advancements in genetic testing now allow you to understand the potential genetic risks that may exist before your future child’s conception and birth. 

Through preconception genetic testing, you can analyze your genetic makeup in detail and identify potential inheritable conditions. 

As expected, the complexity of this process sparks many questions for curious couples planning for a child, including whether to pursue genetic testing before pregnancy, its purpose, and the types of conditions it can detect. 

In this article, we will break down the processes involved in pre-pregnancy tests, explore the different types of preconception screenings, and provide the knowledge you need to make informed family planning decisions.  

What is preconception genetic testing?

Preconception genetic testing provides you with a proactive and informed approach to family planning. It involves analyzing the genetic makeup of the mother or both parents to assess the risk of passing genetic diseases to the offspring. 

Historically, pregnant mothers received their first examination during the first trimester of pregnancy to determine whether the fetus had any abnormalities. Today, future mothers can undergo genetic testing before conceiving to uncover various recessive genes and genetic disorders. 

A preconception genetic test typically involves examining DNA from blood or saliva samples for gene variants or chromosomal abnormalities associated with specific genetic disorders. 

You might have heard the term "preconception genetic testing" and wondered how it's different from prenatal testing. Simply put, preconception testing is done before you're pregnant, giving you time and space to understand your options ahead of time. It differs from prenatal genetic testing, which analyzes the fetus' DNA and is typically performed during pregnancy. 

Preconception genetic testing encompasses several types of tests that examine your DNA for: 

• Recessive disorders

• Known familial genetic conditions

• Broader genetic conditions that may affect reproduction

The most common type of preconception genetic testing is preconception carrier screening, described below.

Preconception carrier screening

This type of preconception genetic carrier testing determines whether you’re an asymptomatic carrier of genes associated with inheritable health conditions such as sickle cell disease or cystic fibrosis. 

Being a carrier means you have a genetic variant that can cause your child to have a specific health condition. You can feel healthy and still carry at least one mutated gene copy that can affect your child. 

As a carrier, you may not have any symptoms, but carrying the gene variant presents the risk of passing the condition to your children if your partner also has the same mutation. Preconception carrier screening helps determine this risk. If that’s the case, there’s a one-in-four (25%) chance that the condition will occur in one of your pregnancies. 

Source: Texas Fertility Center

A positive result after this test means you’re a carrier of the specific condition, whereas a negative result means you are not. Occasionally, the result may be inconclusive or identify a variant of uncertain significance (VUS), in which case you’ll be advised to take further diagnostic tests. 

This test enables you to make informed decisions about family planning before a child is conceived, helping you understand and prepare for potential risks. It also allows you to explore a wide range of reproductive options and family-building alternatives, such as:

• IVF with preimplantation genetic testing

• Using donor eggs or sperm

• Adoption

How does prenatal carrier screening differ?

Unlike preconception carrier tests, the key word here is “prenatal.” Prenatal carrier screening is performed during an established pregnancy and not before. Like most genetic carrier screening tests, it determines if you and your partner are carriers of a gene variant for a recessive genetic disorder and assesses the risk of your fetus being affected. 

It’s important to note that the timing of this test, i.e., testing after conception, impacts the available reproductive options you can choose from and the family planning decisions you can make, since the fetus is already conceived.

Bonus — Learn more about other types of genetic tests:

1. NIPT test

2. Quad screen vs. NIPT

3. First-trimester screening vs. NIPT

4. NIPT vs. Amniocentesis

Why do genetic testing before pregnancy?

Source: Cedric Fauntleroy

While genetic testing is ultimately a personal decision, healthcare professionals increasingly recommend it to help couples make informed decisions before and during pregnancy. 

Couples with known risk factors can leverage preconception genetic testing to better plan and prepare early for potential health issues. 

[Reddit](https://www.reddit.com/r/BabyBumps/comments/a3f8hq/comment/eb5nqi0/)(480)

Other benefits of genetic testing before pregnancy include:

1. Detecting unknown problems: These tests could detect gene variants unrelated to your family history, race, or ethnicity. Identifying them in time can help you avoid passing them on to your children.

2. Providing answers about your family history: In instances of adoption where you or your partner don’t know your family history or if you belong to a multiethnic background, the results can indicate whether you have a high risk for a condition.

3. Reducing anxiety and aiding peace of mind: Understanding your genetic risks before pregnancy significantly reduces anxiety and uncertainty during conception and pregnancy. It allows couples to prepare emotionally and practically, which can help ease the mind.

4. Minimizing risks of inherited disorders: Knowing your carrier status helps minimize the risk of passing on severe inherited disorders. It helps couples make choices that reduce the likelihood of their children being affected by genetic conditions, including starting treatment or making lifestyle changes. 

5. Getting greater control over reproductive choices: By gaining knowledge about your genetic makeup, you can make proactive reproductive choices that align with your goals for the family you’re raising.  

What diseases can be detected through genetic testing before pregnancy?

Preconception genetic testing can test for many types of genetic diseases. Usually, your healthcare provider will recommend a test for a disease based on your family history, medical history, and ethnicity. 

Your family history and medical history reveal how high-risk you are for specific conditions. Some ethnic groups are also known to be at high risk for certain diseases, for example:

Other common genetic diseases you can test for include:

• Fragile X syndrome: A genetic disorder causing developmental delays, learning disabilities, and other behavioral problems.

• Spinal muscular atrophy: A disease known to attack the nerves in the spinal cord, leading to weakening muscles and breathing, swallowing, and movement difficulties.

• Hemophilia: A rare bleeding disorder that happens when the blood doesn’t clot enough to slow down or stop the bleeding.

• Familial dysautonomia: A condition that affects involuntary actions such as digestion, breathing, blood pressure regulation, and body temperature. 

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Who should consider preconception genetic testing?

Source: Mart Production

Choosing whether to undergo preconception genetic testing can be a complex decision, and it’s understandable to feel uncertain. While the process may seem emotionally challenging, the benefits are undeniable. 

[Reddit](https://www.reddit.com/r/BabyBumps/comments/14eiwpo/comment/jov78bw/)(480)

If you're unsure whether preconception testing is right for you, here are the groups of people it's commonly recommended for, which may help you decide:

1. Couples planning a pregnancy: Any couple looking to start a family can benefit from understanding their genetic risks before conception.

2. Individuals with a family history of genetic disorders: If you or your partner have a known family history of genetic disorders, consider going for a preconception genetic test to identify if you carry the same gene mutations. Understanding your carrier status allows you to assess the risk of passing the condition to your children or explore other reproduction options. 

3. People from specific ethnic backgrounds: If you or your partner belong to any of the ethnic groups prone to certain inherited diseases (e.g., Ashkenazi Jewish, African, European, or Asian), you should consider targeted testing.   

If you don’t fall into any of these groups, you may consider how the results will benefit you before you proceed, or consult your healthcare provider to decide if the test is necessary.

What are the next steps after preconception genetic testing?

If your test result is positive, it reveals that you are a carrier of a gene variant associated with a specific condition. This doesn’t mean that you’ll pass the condition to your child, but there is an increased risk that it could happen.

These are the typical next steps to consider after receiving the result:

1. Partner testing: Your partner will be tested to determine if they are also a carrier of the gene variant. If both of you are carriers, the risk of the child inheriting the condition increases.

2. Genetic counseling: A genetic counselor will discuss your results with you, explain your options, and advise you on how to move forward to have the best chance of giving birth to a healthy baby.

3. Making reproductive choices: If you would rather not take your chances through natural conception, your healthcare provider will explore other reproduction options with you. These include in vitro fertilization, where embryos are tested for genetic disorders before being transferred to the uterus. You can also use a donor egg or sperm from a non-carrier to eliminate the chance of the baby inheriting the genetic condition.

Where to get genetic testing before pregnancy?

If you’re ready to take the next step, there are a few ways to get started. 

A general obstetrician or a fertility specialist will typically initiate most genetic tests based on your history. These healthcare professionals will recommend the relevant genetic test and refer you to a genetic counselor for further discussion. 

Your provider or genetic counselor may also refer you to clinical laboratories that offer genetic testing services, as they often work together. There are also several direct-to-consumer genetic testing kits that you can order online, allowing you to test from the convenience of your home.

If you’re seeking a convenient and reliable at-home genetic testing experience, try Nucleus Family. Unlike standard genetic carrier tests focusing on screening specific gene mutations, Nucleus uses clinical-grade whole-genome sequencing (WGS) to analyze almost 100% of your genome.

This comprehensive genetic test provides a broader understanding of your genetic makeup, offering information that goes beyond your carrier status to include a range of other genetic predispositions.

Nucleus: Your reliable partner for comprehensive preconception genetic testing

Nucleus offers a comprehensive approach to preconception genetic testing using the advanced WGS technology. The platform analyzes nearly 100% of your DNA, providing a more complete picture of your genetic risks than other genetic tests.

With Nucleus Family, you get highly accurate results that identify a wide range of genetic risks for 900+ conditions, including your carrier status for inherited conditions. Your results are presented in a personalized, easy-to-understand report that explains your status and even offers actionable recommendations based on your results.  

Nucleus offers guidance every step of the way. It partners with SteadyMD to provide access to certified genetic counselors who can help you understand your results and make informed, timely decisions. 

How to do genetic testing before pregnancy at home with Nucleus Family

The Nucleus Family kit offers an easy and reliable way to take an at-home genetic test and receive your results conveniently, without the need to visit a laboratory. Follow these steps to get yours:

1. Sign up for Nucleus Family

2. Provide your personal information 

3. Order your test kit online

Once your kit arrives, follow the instructions to collect your sample, then mail the kit back to Nucleus using the prelabeled envelope with free shipping. In 6–8 weeks, you’ll be notified of your results, which you can access via your account. 

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Featured image source: Edward Jenner