What uncertain newborn screening results mean for infants and families

Emerging Challenges in NBS: Benefits and Harms of Receiving Uncertain Prognoses After NBS

NIH-funded research Children's Research Institute · NIH-11177059

This project looks at how unclear newborn screening results affect infants and their families over time.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionChildren's Research Institute NIH-funded
Lab location1 site (Washington, United States)
Project IDNIH-11177059 on NIH RePORTER

What this research studies

If your baby gets an unclear result on newborn screening, this project will follow families like yours to see what happens next. The team will link state screening records, medical charts, and family surveys to track health, development, and family experiences over months and years. They will generate population-level, longitudinal data on children labeled as “patients in waiting” and compare their outcomes to children with clear diagnoses. The goal is to clarify the benefits and harms of uncertain prognoses so care and policy can better support families.

Who could benefit from this research

Good fit: Ideal participants are newborns and young children flagged by routine newborn screening with uncertain or variable prognoses, and their parents or caregivers.

Not a fit: Families whose children had clear diagnostic results, adults, or those living outside participating screening programs are unlikely to directly benefit from taking part.

Why it matters

Potential benefit: If successful, the research could help clinicians and policymakers reduce harm from uncertain results and improve counseling and follow-up for affected families.

How similar studies have performed: Previous studies offered small-scale or qualitative insights into these issues, but large, quantitative, longitudinal population-based data of this kind are new.

Where this research is happening

Washington, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-10 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.