What Health Care Providers Need to Know
Although providers do not need to recruit patients for Early Check, we want you to be aware of the study in case you get questions from pregnant women or new parents.
Early Check is a statewide, voluntary study that aims to support the health of newborns and families in North Carolina. Our goal is to learn about rare health conditions and look for better treatments to help babies who have them.
How you can help
If pregnant women or new moms seek your guidance about Early Check, please refer them to our homepage to learn more about the study.
What else you need to know
We will offer the testing at no cost to families, and no insurance is needed. No additional blood is drawn, so there will be no harm or pain to the newborn. The testing is done using the dried blood spot from standard newborn screening.
Learn more about how Early Check works.
We will test newborns for two conditions not included in standard newborn screening: fragile X syndrome (FXS) and spinal muscular atrophy (SMA).
Women can sign up for the study prenatally if they are more than 12 weeks pregnant and plan to give birth in North Carolina. New parents can sign up postnatally if their newborn is less than 4 weeks old. They can go through the consent process on our secure online permissions portal.
The consent process occurs entirely through our secure online permissions portal and is completely voluntary on the part of the parents. Consent does not occur in the hospital or in any other in-person settings.
There are several ways that pregnant women and new moms may learn about Early Check. They may hear about the study through parent-oriented groups, OB/GYNs, pediatricians, hospitals, social media, and other websites.
If a woman in North Carolina does not enroll prenatally, she will receive a letter from the NC State Lab postnatally, inviting her to sign up for Early Check.
View the invitation letter that new moms will receive.
Although the study uses the blood sample taken for standard newborn screening, it is different in a few key ways. Early Check testing is voluntary and done only if parents explicitly opt in to the testing. Also, the test results are reported directly to families rather than to health care providers. Normal test results will be reported via secure messaging online. Not normal test results will be reported to the family by a genetic counselor.
Most families will get a normal test result for their newborn. They will be able to view the test results on our secure, online participant portal.
If the test results are positive, a genetic counselor will call the family within a few days to schedule a second test to confirm the result. Following confirmation of a diagnosis, the genetic counselor will give families information, counseling, and recommendations for medical care. Also, the genetic counselor will connect families with specialists, and give them information about research studies looking for possible new treatments.
In these scenarios, the genetic counselor will call the pediatrician and let them know about the positive screen or confirmed diagnosis. We will provide information about the condition along with the lab result following this call. The genetic counselor will encourage the family to inform their baby’s pediatrician and offer to contact them directly on their behalf if they prefer.
The screening results will not be in the child’s electronic health record (EHR) by default. However, the results will be in the EHR once the child receives any clinical service or treatment. This is one of the ways Early Check testing is different from standard newborn screening.
If a pregnant woman or new mom asks you for guidance about participating in the study, please direct her to our homepage. Our website has information for families in both English and Spanish. Families can also call our study hotline at 866-881-2715.
Help us spread the word about Early Check! Download and share this 1-page flyer in your office or on your website. The flyer is available in both English and Spanish.
Patient information is shared with the Early Check researchers under a Business Associate Agreement and is regulated by HIPAA. The baby’s blood specimen is kept for 5 years in the newborn screening computer database. If you have additional questions about storage of the blood sample, please call the NC State Lab: 919-733-3937.
"I am looking forward to the Early Check screening. Fragile X syndrome and SMA are important to identify early because early detection allows for early intervention. The sooner these children get appropriate services the better they tend to do in the long term."
– Daniel Robinson, MD, Pediatrician
- Bailey, D. B., Berry-Kravis, E., Gane, L. W., Guarda, S., Hagerman, R., Powell, C. M., Tassone, F., & Wheeler, A. (2017). Fragile X newborn screening: lessons learned from a multisite screening study. Pediatrics, 139(Suppl 3), S216-S225.
- Bailey, D. B. & Gehtland, L. (2015). Newborn screening: Evolving challenges in an era of rapid discovery. JAMA, 313(15), 1511-1512.
- Paquin, R. S., Peay, H. L., Gehtland, L. M., Lewis, M., & Bailey, D. B. (2016). Parental intentions to enroll children in a voluntary expanded newborn screening program. Social Science & Medicine, 166, 17-24. Epub 2016 Jul 29.