NEONATAL SCREENING FOR HEART DISEASE

Why we need to screen?

50%
of deaths from CHD occur in 1st year
of infant deaths occur in 1st month of life
 CHD
ACYANOTIC HEART DISEASE

CYANOTIC HEART DISEASE

 Why Screen for Critical Congenital Heart Defects?

Congenital Heart Defects

8-9/1,000 live births
Minimum of 32,000 -40,000
infants affected each year in
US
The leading cause of birth
defect-associated infant
illness and death

Critical Congenital Heart

Defects (CCHD)
Approximately 25% of CHD or about 2 in 1,000 live
births About 8,000-10,000 infants born in the US
every year
 What is CCHD?

Critical Congenital Heart Disease (CCHD) a term that

refers to a group of serious heart defects that can affect the
structure or vessels of the heart and are present from birth

CCHD prevents the heart from pumping blood effectively or

reduces the amount of oxygen in the blood. Either can
lead to organ damage and life-threatening complications

(AAP/CDC, 2016)

Also known as Duct-dependent CCHD

 Detection of CCHD

1.Prenatal Ultrasound (Fetal echocardiography) Typically provides a

four-chamber view of the heart Quality varies, only half of all cases of
CCHD are detected
Less than 30% detection of lesions with two ventricle anatomy

2.Physical Exam not as pink as you think…

Some babies with CCHD can initially appear healthy

Not all present with murmurs or cyanosis

3. Pulse Oximetry

Indirectly monitors the oxygen saturation of the blood and

variations in blood flow in the skin

Can detect mild hypoxemia without apparent cyanosis

Can provide continuous values
Non-invasive
Easy to use and widely available
Cost-effective and extensively used
Meets requirements for good
screening

test
 Screening Primary Targets

Hypoplastic left heart syndrome (HLHS)

Pulmonary atresia with intact septum (PA-IVS)
Total anomalous pulmonary venous return (TAPVR)
Transposition of the great arteries (TGA)
The
Persistent truncus arteriosus (PTA)
cyanotic
Tetralogy of Fallot (ToF)
seven
Tricuspid atresia (TA)

(US Ministry of Health, 2011)

 Screening Secondary Targets

Coarctation of the aorta (CoA)

Double outlet right ventricle (DORV)
Ebstein’s anomaly sometimes
Interrupted aortic arch (TAA) cyanotic
Single ventricles (SV)
(CDC)
Also….as False Positive Result
Sepsis
Respiratory issue (eg, pneumonia)
Persistent Pulmonary Hypertension of
the Newborn
 Morbidity Due to Delayed Diagnosis
Shock - global hypoxemic injury with multi-organ dysfunction
• Hypotension
• Poor ventricular function
• Myocardial ischemia
• Pulmonary hypertension
• Renal dysfunction
• Hepatic dysfunction
• Decreased intestinal blood flow - NEC
• DIC
• Metabolic: hypoglycemia, hypocalcemia
• Hypoxic-ischemic encephalopathy
Mahle et al., 2009.
Rationale of Pulse Oximetry Screening

Hypoxaemia present in the majority of critical CCHD

Frequently clinically undetectable, 25-30% of newborns with CCHD

could be missed at the time of hospital discharge (Mahle et. al., 2009)

875 US infants annually will be detected with newborn CCHD screening

(Ailes, et al, 2015)

CCHD and numerous others have significant morbidity from delayed

diagnoses (Hokanson,
2010)

Pulse oximetry may detect babies with CCHD

early, before they collapse
Pulse oximetry studies 2009 - 2012
 Pulse Oximetry
Screening

Detection of significant non-cardiac disease an

important additional finding in all studies
(28-70% of false positives)

Not meant to replace

echocardiography/clinical exam
sensitivitas : kemampuan tes
menunjukkan individu mana yg
menderita sakit dari seluruh populasi
yang benar benar sakit

spesifisitas adalah kemampuan tes

untuk menunjukkan individu mana
yang tidak menderita sakit dari
mereka yang benar benar tidak
sakit
A cutoff 95% SpO2 provides a sensitivity of
76.5% and specificity of 99.9% for
detection of CCHD

Thangaritanam S. Lancet.2012;379(9835):2459-64 13
Performing the Screen

Right hand for pre-ductal and foot for post-ductal reading

Assure the sensor application site is clean and dry
Use proper sensor for the device Screen
while infant is awake and quiet
Avoid when infant is crying, cold or in a deep sleep
Have parent hold infant to calm
Protect sensor from extraneous light
Wait for steady wave or stable display on pulse
oximeter
Screen Negative

Screen Negative (“Pass”)

SpO2 is greater than or equal to 95% in either the hand or
foot, with less than or equal to 3% difference between
them.

What next?
No further measurements required
Inform parents/guardians of the result
Documentation on CCHD portion
Repeat Result…

SpO2 is less than 95% in hand AND foot (but not

less than 90) or more than 3% difference between
the hand and foot

The screen can be repeated twice

(for a total of three chances)

After the third screen, you will have either

a Pass or Refer result
Screen Positive

Screen Positive (“Refer”)

SpO2 in hand OR foot less than 90% at any time

OR

SpO2 is less than 95% in hand AND foot or more than 3%

difference on 3 separate measures, each separated by 1
hour

Remember: “Three strikes and you’re out !

 Screen Positive Result?
Urgent physician referral !

Consideration of non-cardiac pathology (e.g. infection,

persistent pulmonary hypertension)

Referral to pediatric cardiology / echocardiography if cannot

exclude CCHD

Possible transfer to another unit or hospital

Inform parents/guardians of the result

 Remember…a
screen positive does
not necessarily mean
CCHD…!!
it indicates a need
for further
assessment
 Although one value is over 95%, the difference
between the two values is more than 3%
Example 1: The screen should be repeated in one hour

Term infant, 30 hours in initial screen:

Pre-ductal (right hand) 100%

Post-ductal (left foot) 96%

Pass Repeat Refer

 At least one value is over 95% and the
difference is less than or equal to 3%
Repeat Screen 1 hour later:
The screen is complete
No further action should be taken

Term infant, 31 hours in second screen:

Pre-ductal (right hand) 98%

Post-ductal (left foot) 96%

Pass Repeat Refer

 If either value is less than 90 at any time, the screen
result is Refer. Do not repeat the screen, but rather
Example 2: initiate next steps for urgent referral to a physician

Term infant, 25 hours in initial screen:

Pre-ductal (right hand) 95%

Post-ductal (left foot) 89%

Pass Repeat Refer

 Although one value is over 95%, the difference
between the two values is more than 3%
Example 3: The screen should be repeated in one hour

Term infant, 40 hours in initial screen:

Pre-ductal (right hand) 97%

Post-ductal (left foot) 93%

Pass Repeat Refer

 Although both values are over 95%,
the difference between the two values
is more than 3%. The screen should
Repeat screen 1 hour later: be repeated again in one hour

Term infant, 41 hours in initial screen:

Pre-ductal (right hand) 97%

Post-ductal (left foot) 93%

Pass Repeat Refer

 Although one value is over 95%, the
difference between the two values is
more than 3%.
Second repeat screen Since this is the third screen and the
1 hour later: values are not satisfactory, the result is
Refer
Term infant, 42 hours in initial screen:

Pre-ductal (right hand) 97%

Post-ductal (left foot) 93%

Pass Repeat Refer

 Evidence shows 24-48 hrs post-birth is the ideal time
for PO testing to avoid false positives due to transition
from fetal to neonatal circulation. Screening at 16 hours
Example 4: does not follow the algorithm. This screen will need to
be performed at the appropriate time

Term infant, 16 hours in initial screen:

Pre-ductal (right hand) 99%

Post-ductal (left foot) 95%

Pass Repeat Refer

 Key Points
• Newborns with life-threatening CHD may be asymptomatic during
birth hospitalization and can rapidly decompensate after discharge if
the CCHD remains undetected

• Pulse oximetry screening is feasible, painless, acceptable, cost-

effective and reduces the diagnostic gap for CCHD

• Babies with positive results should be referred immediately for

diagnostic echocardiography

• False-positive findings at pulse oxymetry screening may

indicate underlying noncardiac medical condition that cause
hypoxia (eg, sepsis, pneumonia, PPHN)

• Pulse oxymetry should be performed in all babies, even they

have a fetal echocardiographyc or physical examination finding
normal 30
Thank You
31