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Key Findings: Developing a public health tracking system for follow-up of newborn screening metabolic conditions

A baby playing with a laptop

The journal Genetics in Medicine has published a new study on developing a public health tracking system to follow children with metabolic conditions found through newborn screening. CDC researchers and others found that existing public health data programs for newborn screening and birth defects tracking could be used for long term follow-up of newborn screening. This is important information for state public health workers involved in newborn screening and medical professionals who care for children with newborn screening conditions.You can read an abstract of the article here. Read more below for a summary of findings from this article.

Main Findings

About this Study

What is newborn screening?

Soon after birth, all babies born in the United States are checked for certain medical conditions. This process is called newborn screening. All babies are screened, even if they look healthy, because some medical conditions cannot be identified by just looking at the baby. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death.

  • As more conditions are included in newborn screening, it will be important to evaluate how newborn screening for these conditions helps the children with these conditions over time. To do this, data on long-term follow-up of children with newborn screening conditions is needed. Getting data on long-term follow-up has been difficult because programs are not in place to collect and assess this data. Also, there are no standards for what data to collect, where to collect data from, and who should be included.
  • To address these issues, CDC funded projects in California, Iowa, New York, and Utah to collect data on long-term follow-up of children with certain confirmed newborn screening conditions. Children with any of 19 newborn screening conditions were followed through age three years.
  • Data was collected on diagnosis, treatment, doctors’ visits, growth, development, hospitalizations, other health problems, and death.

CDC’s Activities: Newborn Screening Follow-Up

CDC is working to address newborn screening follow-up with the following activities:

  • CDC’s Early Hearing Detection and Intervention (EHDI) Program works with states and territories to ensure that:
    • Infants are screened for hearing loss no later than one month of age
    • Infants who do not pass the screening for hearing loss get a full hearing evaluation no later than 3 months of age
    • Infants with a hearing loss receive treatment and intervention services no later than 6 months of age.
  • CDC has been charged by the U.S. Department of Health and Human Services Secretary to evaluate the ability of state birth defects tracking systems to check how effective critical congenital heart defect (CCHD) newborn screening programs are. State birth defects programs already collect data on prevalence of congenital heart defects, and could evaluate false positives (babies who failed the CCHD screening but do not actually have a CCHD after further evaluation) and false negatives (babies who passed the screen suggesting there was no CCHD but actually did have a CCHD). CDC provides technical assistance to the Congenital Heart Public Health Consortium and to states receiving funding from the Health Resources and Services Administration (HRSA) for CCHD newborn screening activities.

More Information

Key Findings Reference:

Hinton CF, Mai CT, Nabukera SK, Botto LD, Feuchtbaum L, Romitti PA, Wang Y, Piper KN, Olney RS. 2014. Developing a public health tracking system for follow-up of newborn screening metabolic conditions: a 4-state pilot project structure and initial findings. Genetics in Medicine. ;16,484–490.