Newborn Screening for Critical Congenital Heart Defects

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Transcript Newborn Screening for Critical Congenital Heart Defects

Newborn Screening for Critical
Congenital Heart Defects by Pulse
Fall CME Course
Robert Jansen, MD
St. Vincent Women’s Hospital
• I have no financial relationships to disclose
• I will not discuss off label use or unapproved
or investigational use of products or devices
Indiana Senate Bill 0552
Passed February 2011
“Cora’s Law”
•Per 16-41-17-2, effective January 1, 2012, all
birthing facilities in Indiana will be required to
perform pulse oximetry screening on all
newborns to detect critical congenital heart
defects (CCHDs).
Perspective on Importance
• In the United States:
♥ Nearly 40,000 infants/year with CHD
♥ 4,800 infants/year with CCHD
♥ Estimated as many as 200 infants/year die due to
unrecognized CCHD
♥ Median age for these deaths is < 2 weeks
Critical Congenital Heart Disease
♥ Outflow tract defects
Tetralogy of Fallot
D-Transposition of the Great Vessels
Truncus Arteriosus
Total Anomalous Pulmonary Venous Return
♥ Right –sided obstructive defects
– Tricuspid atresia
– Pulmonary atresia, intact septum
♥ Left-sided obstructive defects
– Hypoplastic left heart
Transitional Circulation
♥ Circulatory changes include:
Increase in systemic vascular resistance
Decrease in pulmonary vascular resistance
Increase in left atrial pressure
Closure of the ductus arteriosus and foramen
♥ Increase in left ventricular stroke volume
Perspective on Importance: Timing of
Diagnosis of CCHD
Endorsement of CCHD Screening
CCHD screening endorsed by HHS Secretary
Kathleen Sibelius September, 2011
AHA, ACC, AAP, and March of Dimes all
endorse CCHD screening
US CCHD Screening by States 9/2012
Screening Principles
Incidence of Congenital Heart Disease
♥ According to the March of Dimes, CHD is the
most common birth defect
♥ 8/1000 babies are born with CHD
– 11.6/10,000 have one of the 7 CCHDs
♥ 4/1000 require treatment within the first year
of life
CHD: Morbidity and Mortality
♥ Failure to diagnose CCHD may lead to critical
events, cardiogenic shock or death
♥ Neurological outcome poor with late diagnosis
Prenatal Diagnosis of CCHD
♥ Prenatal Ultrasound
– Usually provides a four-chamber view of the fetal
– Variable in quality
– Detect 15% (AR)-23% (CA), to possibly 50%
(estimate of best capability) of CCHDs
Detection of CHD by Physical Exam
♥ 44% of CHD detected by PE alone (Wren, Arch Dis
Child Fetal Neonatal Ed 80:1999)
♥ 1/12 with murmur heard in the first day of life
have CHD (Nadas’ Pediatic Cardiology)
♥ Findings associated with CCHD may not be
present in the nursery
The Cyanotic “Blind Spot”
JS Hokanson, Neonatology Today, Dec. 2010
Reliability of Pulse Oximetry Screening
for CCHD
♥ Meta-analysis of13 eligible studies with data
for 229,421 newborn babies
♥ Overall sensitivity of pulse oximetry for
detection of critical congenital heart defects
was 76·5% (95% CI 67·7—83·5)
♥ Specificity was 99·9% (95% CI 99·7—99·9)
♥ False-positive rate of 0·14% (95% CI 0·06—
Thangaratinam et al. The Lancet, Early Online
Publication, 2 May 2012 doi:10.1016/S01406736(12)60107-X
Reliability of Pulse Oximetry Screening
for CCHD
♥ The false-positive rate for detection of critical
congenital heart defects was particularly low
when newborn pulse oximetry was done after
24 h from birth compared to being done
before 24 h (0·05% [0·02—0·12] vs 0·50
[0·29—0·86]; p=0·0017).
Thangaratinam et al. The Lancet, Early
Online Publication, 2 May 2012
Feasibility of implementing pulse
oximetry screening for congenital
heart disease in a community hospital
♥ From January 2009 through May 2010, of 6841 eligible
newborns, 6745 newborns (98.6%) were screened.
♥ Of the nine infants with positive pulse oximetry
– one had CCHD
– four had CHD
– four others were determined to have false positive screens
♥ Average screening time was 3.5 min (0 to 35 min).
Bradshaw et al Journal of Perinatology advance
online publication 26 January 2012; doi:
Barriers to Screening
♥ Barriers identified for a total of 166 of the 6841
enrolled newborns eligible for screening (2.4%).
– screening equipment (53.6% of the time)
• Did not work
• Problems with probe placement
– staff (22.9%)
• Too busy
– infant (19.9%)
• Infant crying or very active
– family (3.6%)
• Mom was in a rush
– In 100% of cases where the barrier was staff-related, the
infant was ultimately not screened.
Barriers to Screening
♥ Time required to overcome barriers was
documented in 34 infants successfully screened and
averaged 5.1 min per infant (2 to 10 min).
Costs of Screening
♥ Pulse oximeter probe ~ $30
♥ Staff time
– Doing screens
– Reporting requirements
♥ “Down-stream” costs for failed screens
– Echocardiograms
– Transport
Performing Pulse Oximetry Screening
Screening in Your Nursery
♥ Pair screening with other standard-of-care
newborn screening
♥ Consider conducting screening in a quiet area
with parents present
♥ Conduct screening while the infant is awake
and quiet
♥ Do not attempt pulse oximetry screening on
an infant who is crying or cold
Indiana Legislative Action
•Infants who are in the NICU should receive pulse oximetry screening or an
echocardiogram prior to discharge in order to be compliant with Indiana’s
newborn screening law. All birthing facilities with NICUs are responsible for
developing protocols in order to ensure that EVERY baby in the NICU is
screened for CCHD.
•The heelstick card itself will be modified in 2012 to include pulse oximetry
data. Until that time, only children who fail or do not receive pulse oximetry
newborn screening need to be reported to ISDH as part of the Pulse Oximetry
Monthly Summary Report.
The infant who fails the screening
Important Note
♥ Passing the newborn pulse oximetry
screening does not rule out all important
congenital heart disease
– The 1 week old infant in your office still may have
congenital heart disease
Findings at 1 Week Check Up
♥ In the 1st week of life concern for cardiac
disease (tachypnea, cyanosis, poor pulses)
requires immediate evaluation
Because of the potential for a duct-dependent lesion
Online Resources
• Children’s National Medical Center
• Congenital Heart Public Health Consortium
• Indiana State Department of Health