Pulse Oximetry Screening

Although Congenital Heart Defects (CHD) are America’s #1 birth defect, affecting 40,000 newborns a year in this country, there is no mandated screening process for them.

At 1 in 100, the incidence of CHD is 10-fold that of the next nearest condition prevalence that is on the national newborn screening panel.  For instance, approximately 1 in 1,000 babies are born with congenital hearing loss (the only other physical screening currently on the panel) and 1 in 10,000 babies are born with PKU, one of the 30 or so genetic disorders currently screened for with a newborn blood sample.

While most textbooks identify nearly 40 different heart defects, Dr. Jack Rychik of CHOP (Children’s Hospital of Philadelphia) states there are probably more than 100 different defects.  Many congenital heart problems are very difficult to identify by fetal or neonatal ultrasound. These issues are even more relevant in hospitals outside major medical centers or in rural areas.

A recent study showed that less than one third of CHD are diagnosed prenatally.  That leaves two thirds that are NOT.  Of these, data indicates that routine newborn exams fail to detect at least half (50%) of CHD cases.*

Murmurs often indicate a heart defect but many serious defects do not present with a murmur immediately after birth. Even with a murmur and a careful exam, additional measures can help increase early detection of life-threatening cardiac disease.

Pulse oximetry – done at the appropriate interval between 24-48 hours after birth – can detect otherwise “silent” heart defects. More than 60% of defects can result in mild desaturation not detectable with the eye but readily detected by pulse oximetry. Simply put, pulse oximetry DOES increase detection of true CHD over exam alone.

The earlier CHD is detected and treated, the more likely a child will survive and have fewer developmental delays and long term health complications. A baby coming back to the hospital in heart distress is PROVEN to have increased chance of death and a worse neurological outcome that those diagnosed before discharge. **

False positive rates have already proven to be quite low – about 1/3 of one percent (.034).  New generation pulse oximeters may result in even greater specificity and fewer false-positives in addition to catching any number of other respiratory and lung issues that can also go undiagnosed.

Pulse oximetry testing is non-invasive, easily performed, inexpensive, and requires little training of nursery personnel. It can simply be done in conjunction with other in-the-nursery screening, such as hearing and will require very few unnecessary echocardiograms.

Congenital heart disease accounts for the majority of deaths from congenital defects in childhood – six times more common than chromosomal abnormalities.

Nearly twice as many children die from Congenital Heart Defects in the United States each year as from all forms of childhood cancers combined.

By any standard, this is a public health need. There are many fine institutions in this country that already realize postnatal screening to identify CHD should be a vital part of normal newborn care and are screening without mandate, including Regions Hospital in Saint Paul, Mary Bridge Pediatric Heart Center in Tacoma, and Children’s National Medical Center in Washington DC.

The nomination for screening for Critical Congenital Heart Defects using pulse oximetry has cleared its first national hurdle with the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).  This is a committee under Health and Human Services that reports directly to Secretary Sebelius.  At the January 2010 meeting screening for heart defects was on the agenda for the first time ever, and  a favorable subcommittee report on pulse oximetry was presented by Dr. Piero Rinaldo of Mayo Clinic, who is a voting member of the committee.  The committee voted unanimously to accept the nomination of screening for critical congenital heart disease, using pulse oximetry, to be considered for recommendation to the Secretary and bumped it up to their #1 priority moving forward.   As a next step, the ACHDNC External Review Workgroup will present its evidence/findings and upon another committee vote, Secretary Sebelius would receive the recommendation.  She is required by law to respond within 180 days – at which time universal screening would be added to the national newborn screening panel.

How can you help make this happen? Contact R. Rodney Howell, MD, Chair of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) and let him know you want all newborns to be screened via pulse oximetry for Congenital Heart Defects, America’s most common birth defect.

Call Dr. Howell at: (301) 451-2138 or email him at: rodney.howell@nih.hhs.gov


*Although many of the missed cases will be only a ventriculoseptal 2 defect (VSD), an additional study showed that only 38% of patients with IAA, HLHS, COA, and aortic stenosis (AS) became symptomatic or were clinically diagnosed prior to discharge.7 Some types of CHD have complete mixing of venous and arterial blood, with resulting pulse oximeter readings (SpO2) in the low 90s, and many observers cannot recognize arterial desaturation until the SpO2 drops into the mid- to low-80s. Therefore, mild desaturation may indicate serious CHD and not be recognized.

** March of Dimes


A huge thanks to Anna Saarinen of 1in100.org – much of what you read on this page is from her excellent website:


One Response to “Pulse Oximetry Screening”

  1. With good conditions and blood flow readings can really be counted on.

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