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Screening for Critical Congenital Heart Defects

Importance of Newborn Screening for Critical Congenital Heart Defects

Sleeping newborn

Screening for critical congenital heart defects (critical CHDs) can help identify some babies with a critical CHD before they go home from the birth hospital. This allows these babies to be treated early and may prevent disability or death early in life.

Number of Babies that Screening Can Help

Some babies with a critical CHD appear healthy at first and may be sent home before their critical CHD is detected. Newborn screening for critical CHDs is a tool that works with prenatal diagnosis and physical exams after birth to improve detection of critical CHDs. The number of babies with an undiagnosed critical CHD that might be found using pulse oximetry depends on the level of nursery care and the type of critical CHD, among other factors.1 CDC estimates that, each year, about 875 more newborns with a critical CHD could be identified at birth hospitals using pulse oximetry newborn screening, but an equal number (880 babies) might still be missed each year in the United States, most of whom will have critical CHD types (coarctation of the aorta or interrupted aortic arch, tetralogy of Fallot, or transposition of the great arteries) less likely to be detected through pulse oximetry newborn screening.2

Jodi's Story

"After a normal pregnancy, Alex was born at 40 weeks via C-section. Everything seemed fine at first. After some time together, Alex was taken to the nursery to get cleaned up, but after 3 hours he still was not back with us. Finally, the pediatrician came in and explained that when a nurse was getting him dressed to come back to our room, she noticed that his nail beds were turning blue. So, she screened him using pulse oximetry.”

"Not having any idea what he was talking about, I told him that my husband and I have had asthma since childhood. He assured me that was not the problem and that they felt it was a problem with his heart. After a brief amount of time and an echocardiogram, it was determined that Alex had tricuspid atresia with pulmonary atresia.”

Jodi "During the first few months of his life, Alex underwent two open heart surgeries, and he will need a third surgery. But now, Alex is an active and playful toddler. He is walking, running, talking, eating, laughing and trying to toilet train himself! He also enjoys reading and playing with his sister. Even though we have had a roller coaster of emotions, I cannot imagine how different our lives would be if that nurse did not notice the change in his color and if his oxygen level was not checked.”

Importance of Critical CHD Diagnosis Before Leaving the Hospital

When babies with an undiagnosed critical CHD leave the hospital, they might have very serious problems, such as cardiac collapse (when a baby’s heart stops working properly and can’t get oxygen to the body) or death within the first few days or weeks they are at home.

If a critical CHD is diagnosed before a baby leaves the hospital, doctors can provide care and treatment that may prevent later health problems or even death. They can also better plan treatment for a baby with a critical CHD, helping the baby have surgery or other treatment when he or she is stable, not in an emergency situation. Babies that have a critical CHD diagnosed after they leave the hospital tend to be admitted to the hospital more frequently, spend more time in the hospital, and have higher hospital costs compared with babies that had a critical CHD diagnosed in the hospital.3

For every 200 children with a critical CHD, at least 1 death due to an undiagnosed critical CHD could potentially be avoided if all hospitals screened newborn babies for critical CHDs using pulse oximetry.3

Costs

There are always costs when screening tests are done. The cost of critical CHD screening depends on many factors, such as the number of births in a hospital, the type of equipment used, and how long the screening takes. The costs of critical CHD screening is about $5 to $14 for each newborn baby screened.4-6

Other costs, in addition to those of the screen itself, are important as well. Babies that fail the critical CHD pulse oximetry screen will need to have extra medical tests, might spend more time in the hospital, or be transferred to another hospital for specialized treatment. These costs need to be considered when looking at total costs for critical CHD screening programs. However, if doctors confirm that these babies do have a critical CHD, they will also receive the care they need in a timely manner and possibly avoid other costs like emergency care.

Overall, pulse oximetry screening is likely cost effective, which means that the health benefits of screening will outweigh the costs of screening.7

Newborn Screening Contingency Plan, Version II, 2017

The intent of the Contingency Plan is to facilitate collaboration among federal agencies and state, local, territorial, tribal, and regional efforts to screen newborns for identified conditions during a public health emergency. This effort is limited to those areas of the newborn screening system (screening test, diagnosis and follow-up, treatment and management, evaluation, and education), for which the state public health agency assumes an oversight role.

Read the Newborn Screening Contingency Plan [PDF – 25 MB]

References

  1. Dawson AL, Cassell CH, Riehle-Colarusso T, Grosse SD, Tanner JP, Kirby RS, Watkins SM, Correia JA, Olney RS. Factors associated with late detection of critical congenital heart disease. Pediatrics. 2013; 132: e604-11.
  2. Ailes EC, Gilboa SM, Honein MA, Oster ME. Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening. Pediatrics. 2015;135(6):1000-1008.
  3. Peterson C, Dawson A, Grosse SD, Riehle-Colarusso T, Olney RS, Tanner JP, Kirby RS, Correia JA, Watkins SM, Cassell CH. Hospitalizations, costs, and mortality among infants with critical congenital heart disease: How important is timely detection? Birth Def Res A Clin Mol Teratol. 2013;97(10):664-72.
  4. Mahle WT, Newburger JW, Matherne GP, Smith FC, Hoke TR, Koppel R, Gidding SS, Beekman RH 3rd, Grosse SD. American Heart Association Congenital Heart Defects Committee of the Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Interdisciplinary Council on Quality of Care and Outcomes Research; American Academy of Pediatrics Section on Cardiology and Cardiac Surgery; Committee on Fetus and Newborn. Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the AHA and AAP. Pediatrics. 2009; 124:823-36.
  5. De-Wahl Granelli A, Wennergren M, Sandberg K, Mellander M, Bejlum C, Inganas L, Eriksson M, Segerdahl N, Agren A, Ekman-Joelsson BM, Sunnegardh J, Verdicchio M, Sotman-Smith I. Impact of pulse-oximetry screening on the detection of duct-dependent congenital heart disease: a Swedish prospective screening study in 39,821 newborns. BMJ. 2009; 338:a3037.
  6. Peterson C, Gross SD, Glidewell J, Garg LF, Van Naarden Braun K, Knapp MM, Beres LM, Hinton CF, Olney RS, Cassell CH. A public health economic assessment of hospitals’ cost to screen newborns for critical congenital heart disease. Public Health Rep. 2014;129(1):86-93.
  7. Peterson C, Grosse SD, Oster ME, Olney RS, Cassell CH. Cost-effectiveness of routine screening for critical congenital heart disease in US newborns. Pediatrics. 2013; 132:e595-603.

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