Newborn Screening Guidelines Not Followed by All Hospitals

Bridget M. Kuehn

August 24, 2017

Some US newborns still do not receive recommended screening for critical congenital heart disease (CCHD) or hearing loss, according to a report from the Centers for Disease Control and Prevention (CDC).

Scott D. Grosse, PhD, from the National Center on Birth Defects and Developmental Disabilities, CDC, and colleagues present the report online August 25 in Morbidity and Mortality Weekly Report.

"Newborn screening at birth is crucial to quickly identify infants at risk of hearing loss and congenital heart disease so they can receive early intervention and follow-up care," Brenda Fitzgerald, MD, CDC director, said in a news release. "Finding these conditions early can give infants the best chance to properly develop and lead healthy lives."

Critical Congenital Heart Disease Screening Saves Lives

Two of every 1000 infants born have CCHD, the more severe form of CHD, the authors write. CCHD screening can help identify 12 structural heart disorders that cause CCHD. Before the introduction of CCHD screening, an estimated 70 to 100 US infants died from late-diagnosed CCHD each year.

New Jersey was the first state to require CCHD screening for all newborns in 2011. One day after New Jersey implemented the mandatory screening, an infant failed testing and was determined to have CCHD. That baby received life-saving surgery.

Most US newborns now receive screening through state-funded CCHD programs. However, the CDC estimates that 875 infants with CCHD still leave the hospital without a diagnosis because some hospitals do not screen. If all hospitals implement CCHD screening, one death could be prevented for every 200 children born with CCHD, according to the news release.

CCHD screening requires a pulse oximetry test that costs roughly $10 to $15 per infant, and identifying newborns with CCHD can prevent severe disability and death by allowing timely intervention, the authors explain. They say the screening is cost-effective as a result of the savings from averted hospitalizations and deaths.

New Jersey has implemented a program to track all children who fail CCHD screening at birth, which, along with training and education programs, has helped the state achieve a very high rate of coverage. Better reporting across the country is important to ensure all newborns are screened.

Hearing Screening Improves Language Development

By contrast, the federally funded state-based Early Hearing Detection and Intervention (EHDI) programs have enjoyed more success. EHDI programs have helped boost the number of children screened for hearing loss from 52% in 2000 to 97% in 2014, according to the report.

About 1.6 of every 1000 infants in the United States have permanent hearing loss at birth. EHDI programs use 1-3-6 as a guideline to ensure that all newborns are screened for hearing loss by age 1 month, diagnosed by 3 months, and enrolled in early intervention by 6 months of age. EHDI is based on evidence that children who receive early intervention for hearing deficits have better language development than those who do not. Early hearing loss intervention saves an estimated $200 million a year in special education costs, almost enough for EHDI to pay for itself, the authors explain.

Although some US infants still do not receive the hearing screening and follow-up they need, the authors say that  the success of EHDI programs and the data systems they use to ensure good coverage and follow-up could be a model to help improve CCHD coverage in the United States.

"The collaboration between EHDI programs, health professionals, and parents has led to great progress on hearing loss screening and follow-up," coauthor Stuart Shapira, MD, PhD, chief medical officer and associate director for science at the CDC's National Center on Birth Defects and Developmental Disabilities, said in the news release. "We must apply the same effort and resources to CCHD screening to help prevent infant deaths and offer children the greatest chance to thrive." 

Dr Grosse participated in a tour in China organized by the nonprofit Newborn Foundation, which promotes pulse oximetry screening. Dr Sontag reports receiving grants from US agencies as well as the Cystic Fibrosis Foundation and the Gerber Foundation.

MMWR. Published online August 25, 2017. Full text

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