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Newborns Still Not Receiving Hearing and Heart Screenings


On August 24, 2017, the CDC published a report that highlighted the gaps in assessing point-of-care newborn screening for hearing loss (HL) and critical congenital heart disease (CCHD).

 

Approximately one in 500 infants are born with CCHD, which includes the more severe forms of congenital heart disease (CHD). CHD is the most common type of birth defect and accounts for more than 30% of all infant deaths from birth defects. Infants with undetected CCHD who are discharged from a birth hospital are at risk for developing serious complications that could result in emergency readmission or death within the first few days or weeks of life. Point-of-care screening can help identify many infants with CCHD before they go home.

 

Permanent hearing loss present at birth affects nearly two infants per 1,000 in the United States. Most children with hearing loss are considered to have or be at risk for a developmental delay. Infants who are diagnosed before age three months and receive intervention services before age six months have significantly better language development than children who are not.

 

Newborn screening, a public health program that benefits four million U.S. infants every year, identifies conditions that can affect a child’s long-term health or even survival. Besides laboratory testing of dried bloodspots for dozens of conditions, which has been in place since the 1970s, national guidelines now call for newborns to be screened for hearing loss and CCHD while at the birth facility.

 

“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,” said CDC Director Brenda Fitzgerald, M.D. “Finding these conditions early can give infants the best chance to properly develop and lead healthy lives.”

 

The CDC estimated that without newborn screening, each year approximately 875 U.S. newborns with a CCHD were not diagnosed before discharge from birth facilities. However, most of these babies can now be identified using a non-invasive and painless test referred to as “pulse oximetry testing.” CCHD includes 12 structural heart disorders that prevent the heart from pumping blood normally to the body, resulting in a high likelihood of low blood oxygen saturation. For every 200 infants with a CCHD, at least one death due to an undiagnosed CCHD can be avoided if all birth facilities screen newborn babies using pulse oximetry testing.

 

Federally funded state-based Early Hearing Detection and Intervention (EHDI) programs help ensure infants receive recommended diagnostic and intervention services. In short, EHDI focuses on nationally recognized “1-3-6” guidelines: children are screened for hearing loss before 1 month of age, and, if needed, diagnosed for hearing loss before age 3 months and enrolled in early intervention programs before age 6 months.

 

In contrast to EHDI, there is no federal support for state-based CCHD screening programs. Not detecting heart-related birth defects early can pose a significant increase in risk for permanent disability and even death. “The collaboration between EHDI programs, health professionals, and parents has led to great progress on hearing loss screening and follow-up,” said Stuart K. Shapira, M.D., Ph.D., Chief Medical Officer and Associate Director for Science at the CDC’s National Center on Birth Defects and Developmental Disabilities. “We must apply the same effort and resources to CCHD screening to help prevent infant deaths and offer children the greatest chance to thrive.”

 

The objectives of point-of-care screening for these two conditions are early identification and intervention to improve neurodevelopment, most notably language and related skills among infants with permanent hearing loss, and to prevent death or severe disability resulting from delayed diagnosis of CCHD. EHDI is a mature point-of-care screening program that has demonstrated health and economic benefits. Lessons learned from EHDI can be applied to both CCHD screening and point-of-care newborn screening for other conditions that might be included in the Recommended Uniform Screening Panel in the future. The interface between public health and hospitals, healthcare providers, and families in point-of-care screening presents both challenges and opportunities across conditions. As demonstrated by EHDI, the data tracking and follow-up capacity of public health agencies can facilitate early identification of affected infants and ongoing coordination between families and clinical care systems. By promoting screening, timely diagnosis, and follow-up based on standardized data systems, public health workers and agencies can play critical roles in enabling children with permanent hearing loss or CCHD to be healthy and reach their full potential.

 

See the CDC Announcement

 

See the CDC Report

 

This CDC Report complements the September 2016 Public Health Grand Rounds forum Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease. See the Newborn Screening for Hearing Loss and Critical Congenital Heart Disease article.

 

See also Medical Law Perspectives Report: Hear No Evil? Liability for Hearing Disorder or Hearing Loss Injuries

 

See also Medical Law Perspectives Report: Congenital Heart Conditions: How Infants, Adults, and Healthcare Providers Handle the Risks

 

 

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