Children require genetic testing for a variety of reasons, including both universal newborn screening and as indicated for certain medical concerns.

Newborn screening is typically performed by a simple blood test before a baby leaves the hospital. It’s used to detect certain disorders and conditions that may affect health and development, and where early diagnosis and management may improve a child’s outcome.

The blood test screens for rare genetic, metabolic, and hormone-related conditions, such as sickle cell anemia, phenylketonuria and cystic fibrosis.

In addition to the blood test, newborn infants also receive a screening for hearing loss and congenital heart disease.

Does a positive newborn screening result mean that a baby has a medical condition?

“Positive screening results do not mean that the baby definitively has a disorder,” said Reena Jethva, M.D., a board certified pediatric genetics and genomics physician who practices in Hackensack and Neptune, New Jersey.

If results come back positive, the infant would be referred to the most appropriate sub-specialist, such as a geneticist, cardiologist, or endocrinologist. Additional testing would be recommended to confirm if there is a disorder or condition present and what kind of management is needed.

But when does a child need additional genetic testing?

There are several reasons why a child would receive additional genetic testing other than newborn screening.

1. There was a concern brought up during the pregnancy. For example, if a mother’s prenatal genetic screening (i.e. to identify a risk for chromosomal abnormalities, such as Down Syndrome, also known as Trisomy 21) revealed high risk or if an ultrasound raised questions during pregnancy, the mother may be instructed to pursue genetic testing soon after the child is born.
2. Doctors notice specific medical concerns after birth that suggest a genetic connection. For example, a genetics evaluation may be warranted for certain craniofacial or skeletal features, hearing loss, cardiac conditions or neurodevelopmental concerns.
3. There is a family history of a specific hereditary condition for which a child may be at risk and would benefit from testing and management before the adult years.

What are the benefits of genetic testing for children?

There are continual advances in genetic knowledge, diagnostic technology, and therapeutic options. This allows for opportunities to intervene early and improve a child’s outcome.

“Determining a child’s specific genetic condition has the potential to help individuals and their families better anticipate health care needs, understand the long-term prognosis, target management, and be aware of at-risk family members and how this might impact relatives in the same or future generations,” said Dr. Jethva.

“Genetic testing may find an answer to a family's medical odyssey. In some cases, such as newborn screening, it can save lives."

An Example of Early Intervention

Newborn screening has allowed for earlier detection and treatment for disorders that previously were fatal or had serious medical consequences. In some cases, even dietary changes can have a significant impact on a child’s health.

For example, phenylketonuria (PKU) is a protein metabolism disorder where your body has trouble breaking down the amino acid called phenylalanine and it causes build-up in the brain and body. The build-up of phenylalanine can cause intellectual disability, seizures and behavioral concerns.

With appropriate dietary modifications where foods that contain phenylalanine are decrease, the build-up is significantly reduced and children would no longer be expected to have the serious neurodevelopmental complications.

What's more, research advances have led to other commonly used treatment options that further improve the quality of life of affected individuals.

What is a pediatric geneticist?

Pediatric genetics physicians, also known as pediatric geneticists, are experts in evaluating children and adults for genetic disorders or risk for hereditary conditions.

Based on the evaluation, they recommend testing, counsel on genetic conditions, and provide clinical care to help treat or manage symptoms related to genetic conditions. They work closely in partnership with other specialists, such as neurologists or cardiologists.

Whether a family needs evaluation for prenatal concerns, specific medical issues in their child, or possible familial or recurrence risk information, the geneticist strives to provide comprehensive and compassionate care so that the family is able to best address the needs of their child and whole family.

Next Steps & Resources:

• Meet our experts: Reena Jethva, M.D.
• To make an appointment with Dr. Jethva or a doctor near you, call 800-822-8905 or visit our website.

The material provided through HealthU is intended to be used as general information only and should not replace the advice of your physician. Always consult your physician for individual care.