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HHS Supports Screening Newborns for Congenital Heart Disease

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October 7, 2011

The U.S. Department of Health and Human Services (HHS) has recommended that states screen all newborns for critical congenital heart disease (CCHD). Congenital heart disease is one of the most common types of birth defects and can be life-threatening if not treated. With the goal of improved survival rates, universal screening could help in the identification of cases, resulting in early intervention.

HHS Secretary Kathleen Sebelius on September 21, 2011 adopted the recommendation from the HHS Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to add screening for CCHD to the Recommended Uniform Screening Panel. Specifically, SACHDNC recommends that all newborns receive pulse oximetry, a quick, painless, noninvasive test that measures oxygen saturation in the blood by using a sensor attached by a strap to the hand or foot of the baby. A low blood oxygen saturation can be a sign of CCHD, which includes structural heart defects that can lead to organ damage and death.

Sebelius and the committee based their recommendation on a report published in a recent issue of Pediatrics by a working group comprised of professionals from SACHDNC, American Academy of Pediatrics, American College of Cardiology Foundation, and American Heart Association. The group reviewed evidence from large Swedish and German studies to make recommendations for use of pulse oximetry for newborn screening to detect CCHD.

"The seven specific types of heart disease this screening looks for account for somewhere around just a quarter of all congenital heart disease," Dr. Alan R. Fleischman, medical director for the March of Dimes Foundation in White Plains, N.Y., and member of the working group that developed the recommendation, told U.S. News and World Report in August. "But these types present with devastating symptoms in the first days to weeks of life, and are often not picked up until the child is critically ill."

Major recommendations from HHS and the working group report include:

  • Use of pulse oximetry as a complement to the usual physical examination completed on the second day of life; earlier screening can lead to false positives, the report notes.
  • Following up positive findings with a complete clinical evaluation and other laboratory and diagnostic tests for causes of low blood oxygen. If this step yields no cause, the report suggests ruling out CCHD with echocardiogram.
  • Ensuring that hospitals and birthing centers have protocols for quick diagnosis as well as standards for electronic reporting of results to the newborns’ doctors.

Many parent groups also support adding CCHD to existing state newborn screening programs, but the federal government cannot mandate that states require the test. The American College of Medical Genetics and HHS currently recommend screening for more than 29 congenital disorders. While some states follow these recommendations and have mandatory screening for all of them, others do not. Currently, Maryland and New Jersey have pending legislation that promotes newborn screening for CCHD. There are also hospitals that already offer CCHD screening, including Children’s National Medical Center in Washington, DC. The HHS recommendations aim to promote use of CCHD screening in all states.

Screening for CCHD does present some challenges. These issues include a high rate of false positives, the need to adjust values for those nurseries at high altitudes, as well as the need for equipment and plans for handling referrals if a facility doesn’t have necessary resources for follow-up testing with echocardiogram. Building partnerships with public health agencies is also critical for monitoring the impact of screening to determine if it does, in fact, improve newborn survival rates.

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.

Kemper et al. Strategies for Implementing Screening for Critical Congenital Heart Disease. Pediatrics. Preprint 2011. PDF available for download at through Accessed September 2011.

Roan, Shari. Congenital heart disease screening recommended for newborns. Los Angeles Times. August 21, 2011. Available online at,0,5268306.story through Accessed September 2011.

Cogenital Heart Defects. March of Dimes. May 2008. Available online at through Accessed September 2011.

Alan Mozes. News article. Steps Outlined to Screen All Newborns for Heart Defects. U.S. News and World Report. Published online August 22, 2011 at through Accessed September 2011.

MedlinePlus. Steps Outlined to Screen All Newborns for Heart Defects. August 22, 2011. Available online at through Accessed September 2011. 

Letter from the Secretary of Health and Human Services to R. Rodney Howell, MD, Committee Chairperson, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, September 21, 2011. PDF available for download through Accessed September 2011.

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