Your Baby’s Screening Getting a Diagnosis

A small percentage of babies with out-of-range results do have the condition. When these babies undergo confirmatory testing, the result will be out-of-range, as well. In these cases, the newborn screening result is considered a “true positive” since follow-up testing confirms that the child does have the condition. The next step is to get the baby treatment. 

Do I need to see a specialist?

If possible, a child with a genetic condition should be treated by a team of doctors and other health care professionals who have special knowledge of the condition. Many of the conditions identified through newborn screening are classified as metabolic conditions because they make it difficult for the body to break down and utilize certain substances found in food. Individuals with these conditions generally benefit from meeting with a metabolic specialist and a dietician since they have unique nutritional needs. Other health issues can be associated with these conditions including developmental delay, which may require special screening, management and therapy. Your baby's health care provider can help coordinate care with specialists or other medical resources in the community. To locate a specialist in your area, visit the find a specialist page. 

Because most conditions found on the newborn screening panel are genetic disorders, families may want to meet with a genetic counselor. The goal of genetic counseling is to help families understand the results of a screen, the causes of genetic conditions, and the impact this diagnosis could have on other family members and future pregnancies. For a referral, speak with your child’s health care provider. Two good resources for finding genetic specialists and other genetic services in your area include: the directory of genetic specialists on the National Society of Genetic Counselors' website and the Genetic Clinics Database on the American College of Medical Genetics' website.

How can I keep my baby healthy? 

A primary health care provider will work with a team of specialists to determine a treatment plan that meets a child’s individual needs. The plan will depend on many things such as the child’s age, weight, general health, and test results. Each condition found on the newborn screening panel is different. Visit the find a condition page to learn more about the newborn screening panels and how conditions are selected. Many of these conditions are treated with special diets, while others require medication or other medical interventions. When a treatment plan is started early and followed carefully, a baby has the best chance for normal growth and development. In fact, many babies identified through newborn screening grow up to lead a normal, healthy life.

What does this mean for my family?

Most of the conditions identified through newborn screening are genetic conditions that follow an autosomal recessive pattern of inheritance. This means that they occur when a baby inherits two non-working copies of a particular gene. Children receive pairs of genes from their parents - one set of genes from the father and one set from the mother. Therefore, babies with recessive genetic conditions inherit one non-working gene from the mother and the other from the father.

When a recessive diagnosis is confirmed in a child, it usually means that the parents are “carriers” of the genetic condition. This means that each parent has one copy of the gene that is working correctly and one that is not working correctly. Because recessive conditions result from two non-working copies of the gene, carriers rarely have symptoms of the condition. However, they can pass the non-working copy of the gene on to their children. Therefore, the parents may want to undergo genetic testing to determine their own carrier status, especially if they plan on having more children in the future.   

Depending on the carrier status of the parents, siblings may have inherited a non-working copy of the gene, as well. They may wish to pursue carrier testing when they reach reproductive age to determine their own chance of having a child with a genetic condition.