Parents often look first to pediatric health care providers for guidance and information when they receive a positive/out-of-range newborn screening result. Because the majority of conditions included in state screening panels are rare, a pediatric provider may only see a patient with one of these conditions once or twice during their career. However, it is very important that pediatric health care providers be knowledgeable about how to respond to these results and their meanings, because how a pediatrician talks about the newborn screening result impacts how parents understand it.
The following resources were created with pediatric health care providers in mind to assist in navigating the time-sensitive confirmatory testing process and to help them provide parents with some anticipatory guidance.
The American College of Medical Genetics (ACMG) created special ACT sheets and confirmatory testing algorithms for newborn screening. The confirmatory algorithms detail what steps should be taken following a positive/out-of-range newborn screening result to either definitively diagnose the condition or to rule the newborn screening result as a “false positive.” The ACT sheets provide detailed information about what clinical steps need to be taken following a definitive diagnosis, as well as future health considerations and links to reliable resources. Links to specific conditions are also included in the condition-specific information pages of Find a Condition. Simply search for a condition and read the section on “Follow Up Testing.”
Below is a draft checklist of topics to cover with parents when informing them that their child had a newborn screening result that was out of the normal range. Ensuring that parents have this information before the confirmatory testing process begins will help to address concerns and alleviate some of the stress that families will naturally experience.
Remind them: Take a deep breath.
It is possible that their child has a treatable genetic condition, but it is much more likely that their baby is healthy and the test result is a “false positive.”
Questions to cover with parents (before more testing is done):
- What is the name of the disoder that came up with the abnormal result?
- What kind of test will be performed next, and how and when results will be communicated?
- Do they need a referral to see a specialist? How should the parents prepare their baby for the test? Do they need to bring anything?
- Are there good resources to learn more about the condition in question? To start, refer parents to the condition-specific page of this website.
Preparing to wait for the results:
Have the parents consider how they cope with stressful situations, including if they speak with others and/or search for more information.
Cover the basics: Is there anything they should be watching for in their child? Are there any precautions they should take while waiting for the results?
Explaining the follow-up test results and what they mean:
- False positive result: Is the baby really healthy? Why did this happen? Are there other parents who have gone through this?
- Carrier identification: Is the baby really healthy? How did this happen? What does this mean for the baby’s future health? What does it mean for other family members?
- True positive result: Does the baby need to see a specialist? What should they do now? How can they keep their baby healthy? Will this affect their baby’s ability to obtain health insurance coverage?
This video created by Children's National Medical Center and Baby's First Test provides information on using pulse-oximetry as a part of newborn screening to detect critical congenital heart disease. You can find the video geared towards parents here.
Heel stick video for providers:
This video created by the University of Iowa State Hygenic Laboratory and School of Journalism and Mass Communication answers the most common questions providers have about the heel stick collection process.
NCHAM serves as the National Resource Center for the implementation and improvement of comprehensive and effective Early Hearing Detection and Intervention (EHDI) systems. As a multidisciplinary Center, their goal is to ensure that all infants and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational, and medical intervention. This site has a number of useful resources for providers to stay up to date on the latet requirements and resources available to parents.
Do you know of a resource on newborn screening for pediatric providers that you have found useful? Tell us about it!