Early Check: Expanded Screening in Newborns

Launched by RTI INTERNATIONAL · Aug 29, 2018

Keywords

ClinConnect Summary

Early Check is a large, observational study in North Carolina (with involvement in nearby states) that tests whether expanding newborn screening to a wide panel of rare, treatable conditions is feasible and helpful. The study uses leftover blood from routine newborn screening to identify babies who screen positive for certain conditions, with free confirmatory testing if a positive result is found. If a baby is confirmed to have a disorder, they are referred for treatment and their parents receive genetic counseling. The panel includes many conditions and may change over time as science advances. The study also plans to learn how screening affects families by talking with parents through brief interviews.

Eligibility is broad but specific: it includes all newborns who had a state newborn screen in North Carolina and who live in North Carolina or South Carolina, and who are under 31 days old. A parent or guardian must be able to give online permission to join the study. If the newborn’s sample isn’t available or isn’t sufficient for screening, they are not eligible. Participation is voluntary and consent is obtained online; the study aims to enroll up to about 30,000 newborns per year. About 95% are expected to screen negative. In addition to screening, the program offers optional activities like interviews with parents and carrier testing for certain conditions, and it provides a structured process for results, follow-up, and ongoing information to families. Biospecimens from the study are handled with specific retention rules (some samples are incinerated at the end, while others may be kept by partnering labs per policy).

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Newborn has newborn screening in North Carolina
• • Newborn lives in North Carolina or South Carolina
• • Newborn is less than 31 days old
• • Person giving consent must have legal custody of the newborn. When the mother retains custody, they must be the person to give consent.
• • Person giving consent must be able to interact with the online permission portal (available in English and Spanish) and give permission online
• Exclusion Criteria:
• • A newborn screening (NBS) sample is unavailable for the newborn
• • Insufficient NBS sample remains to conduct the screening