NICU patient support

Navigating genetic testing in the NICU

When your baby is in the NICU, it can feel like there is a lot of information to absorb all at once. While every family’s journey is different, one thing is true for all parents: you want the best possible care for your baby.

This resource provides a quick overview of why genetic testing may be recommended for your family, what to expect throughout the process, and where to find support along the way.

Genetic testing in the NICU

Why genetic testing may be recommended

Find answers sooner

Sometimes a baby experiences symptoms or medical challenges that cannot be fully explained through routine testing alone. Genetic testing may help doctors understand why a baby is experiencing certain symptoms and identify conditions that may not be visible on other tests.

Guide care decisions

Genetic testing can help guide treatment and medical decisions, and may help avoid unnecessary testing or procedures.

Support for the road ahead

Testing can connect families with specialists and support resources, and help anticipate future medical needs. For some families, testing provides a diagnosis. For others, it helps narrow the path forward and guide next steps.

Understanding exome and genome sequencing

Genetic testing looks at a person’s DNA. DNA contains genes, which are instructions that help tell our bodies how to grow, develop, and function. We inherit half of our DNA from our biological mother and half from our biological father.
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Sometimes changes in DNA can help explain why a baby is sick or experiencing health concerns. Depending on your baby’s medical needs, your healthcare team may recommend exome or genome sequencing.

Exome sequencing

Looks for genetic changes in the portion of your DNA that tells your body how to make proteins.

Genome sequencing

Looks for genetic changes across nearly all of a person’s DNA, providing the most comprehensive view of genetic information available today.

Both tests can help doctors better understand your baby’s health and guide medical care.

Adult hands gently holding the tiny feet and hand of a newborn baby in a hospital bassinet.

What to expect during genetic testing

Sample collection

A DNA sample is collected from your baby through a blood sample, which contains cells that carry baby’s DNA. Our laboratory uses these cells to extract your baby’s DNA and look for changes that may help explain a health condition or guide medical care.

Biological relative samples

Whenever possible, 1-2 biological relatives — usually mom and dad — may also be asked to provide samples. Including relative samples (called duo or trio testing) can increase the likelihood of finding an answer and reduce uncertain findings, also referred to as VUS. Learn why relative samples matter.

DNA analysis

Genetics experts analyze your baby’s DNA and compare findings to known genetic conditions and millions of genetic variants.

Results review

Results are reviewed by genetic experts and then shared with your baby’s healthcare team.

Next steps

Your healthcare team will discuss these results and work with you to determine the most appropriate path forward.

Understanding possible results

Genetic testing can return several kinds of results. Your healthcare team and a genetic counselor can help you understand what your baby’s results mean.

Positive result

A genetic change is found that may help explain your baby’s health condition. This information can help your healthcare team better understand your baby’s needs, guide medical care, and connect your family with the right specialists and resources.

Negative result

No genetic answer is identified based on what is currently known and understood about genetics. This does not mean there is no explanation for your baby’s symptoms. It may mean that the cause cannot yet be identified with today’s technology or scientific knowledge. Even without a diagnosis, the results can help rule out many known genetic conditions and may provide useful information for your baby’s care.

Variant of Uncertain Significance (VUS)

A genetic change is identified, but there is not yet enough clinical research-based evidence to determine whether it is related to your baby’s condition or not. A VUS is not considered a diagnosis.

Secondary findings

Sometimes genetic testing can uncover unexpected information that is not related to your child’s current medical concerns. These are called secondary findings. You can choose whether you would like to receive this information before testing starts. Secondary findings are uncommon and are found in only a small number of people (about 2–3%).

Unexpected findings

Sometimes genetic testing identifies information that is not related to the reason the testing was ordered. This could include a genetic variant that is known to cause a significant childhood health condition that is not related to the child’s symptoms that were provided at the time of the testing, or unexpected information about biological relationships.

Consenting to testing

Informed consent is a big part of genetic testing, and your healthcare team will review the “why” of testing prior to moving forward with collecting samples. Genetic testing can reveal information that extends beyond your baby’s current medical condition, so it is important to ask questions and understand:

Why testing is being performed
The different types of results that may be returned
Options regarding secondary findings
Potential implications for your family

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Questions after watching?

Schedule a complimentary phone call with a GeneDx genetic counselor.

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Understanding privacy and data security

There are federal and local laws in place to protect your child’s privacy and discrimination based on genetic testing results.

Genetic Information Nondiscrimination Act (GINA): a federal law that helps protect individuals from discrimination based on genetic information in health insurance and employment.
HIPAA: Your genetic testing results are protected health information and are safeguarded under federal privacy laws. GeneDx follows the same HIPAA laws and compliance requirements as your personal healthcare facilities do.
Data security: GeneDx uses secure systems and processes to protect patient information and genetic data.
Sample storage: It’s normal to have questions about how samples and genetic information are handled. Your consent forms provide more details, and your healthcare team or a GeneDx genetic counselor can answer any questions you may have.

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Support beyond the NICU

Some genetic findings may continue to be helpful after your baby’s NICU stay. The information learned from genetic testing can help guide care, answer questions, and support health decisions as your child grows.

As science continues to advance, new discoveries may help us better understand genetic information over time.
GeneDx will continue to be a part of your baby’s care team.
If you have questions about your child’s results, feel free to contact us.

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