Key Findings: Developing a public health tracking system for follow-up of newborn screening metabolic conditions
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.
- 261 newborns with metabolic conditions were diagnosed by newborn screening of 1,343,696 newborns (19.4 cases/100,000 live births) in California, Iowa, New York, and Utah over a 2-3 year period.
- Three conditions accounted for 69% of all cases: medium chain acyl-CoA dehydrogenase deficiency (MCADD, 6.0/100,000 live births); phenylketonuria (PKU, 4.3/100,000 live births), and 3-methylcrotonyl-CoA carboxylase deficiency (3MCC, 3.1/100,000 live births).
- During the first year of life, 38% of children had at least one hospitalization and 27% had at least one emergency room (ER) visit. Both hospitalizations (12%) and ER visits (14%) were lower in the third year of life.
- A higher percentage of children with fatty acid oxidation disorders used health services (other than hospitalization) than children with other newborn screening conditions included in the study.
- A higher percentage of children with organic acid disorders were hospitalized during the third year of life than children with other newborn screening conditions included in the study.
- Deaths were reported for 4 children with these newborn screening conditions: very-long-chain acyl-CoA dehydrogenase deficiency, methylmalonic acidemia and glutaric acidemia type 1.
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.
- CDC conducts surveillance (monitoring) of sickle cell disease (SCD) and other blood disorders through programs like the Registry and Surveillance System for Hemoglobinopathies (RuSH) that ended in Fall, 2013 and Public Health Research, Epidemiology, and Surveillance for Hemoglobinopathies (PHRESH) that recently began. RuSH was a pilot project in 7 states that was launched to collect initial, state-specific information about people with SCD and thalassemia. The information collected will assist in determining how many people are affected by these conditions. PHRESH builds on the knowledge gained through RuSH and has started in 3 states. PHRESH focuses on monitoring SCD and other blood disorders, and prevention of health problems in people with these conditions.
- Newborn Screening [http://www.cdc.gov/newbornscreening/]
- Newborn Screening Quality Assurance Program [http://www.cdc.gov/labstandards/nsqap.html]
- Early Hearing Detection and Intervention [http://www.cdc.gov/ncbddd/hearingloss/]
- Sickle Cell Disease [http://www.cdc.gov/ncbddd/sicklecell/index.html]
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.
- Page last reviewed: May 18, 2016
- Page last updated: November 8, 2016
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