Congenital Heart Disease. CCCHD In WI. Critical Congenital Heart Disease. Why Screen? 4/20/2018. Early Detection = Better Outcomes

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1 Congenital Heart Disease A Positive Screen? What Does it Mean? A Review of Pulse Oximetry Screening for Critical Congenital Heart Disease Elizabeth Goetz MD MPH 8-10/1000 livebirths 3% of all infant mortality 46% of deaths due to congenital malformations Death typically in first year of life Critical Congenital Heart Disease CCCHD In WI Incidence: 1-2/1000 births Requires surgery of catheter intervention in first year of life Coarctation of the Aorta Transposition HLHS TAPVR Interrupted Aortic Arch Double Outlet Right Ventricle Truncus Arteriosus Single Ventricle Tricuspid Atresia TOF Pulmonary Atresia Ebsteins Anomaly < 50% detected prenatally 20-25% detected by physical exam Heart murmur Respiratory Distress Poor feeding Cyanosis No symptoms Why Screen? Early Detection = Better Outcomes Detect and intervene with life threatening condition early Without screening 30% of newborns with CCHD diagnosed more than 3 days after birth CCHD detected after birth hospitalization associated with more hospital admissions, more hospitalized days, higher inpatient costs, and higher rates of death. 1

2 Sensitivity of 76.5% Specificity of 99.9% FPR 0.14% Barriers to Screening Implementation Reporting Cost Screening Evolution of CCHD Screening : Proof of concept studies : Benefits of pulse oximetry screening FPR low when screened after 24 hours Some false positives have pulmonary disease or sepsis Pulse oximetry can be implemented on a large scale 2011: Pulse oximetry screening added to Recommended Uniform Screening Panel for Newborns Screening in Wisconsin Wisconsin SHINE Project 3 year demonstration grant from HRSA Provide information about Pulse Oximetry Screening Assist in the implementation of universal screening Evaluate the performance of Pulse Oximetry Screening in hospital and out of hospital settings Pox screening added to WI Newborn Screening Program s panel of conditions July 3, 2014 Wis. Admin. Code DHS Universal Screening: CCHD Basis of Screening Screening for hypoxia Transition from fetal to neonatal cardiac anatomy Identification of ductal dependent lesions Early screening must allow for early and more effective treatment Harm must be small False Positive Results Screening Program should be evaluated Fetal Heart Anatomy Oxygenation occurs in the placenta High pulmonary pressure, low systemic pressure Three fetal shunts Ductus venosus Foramen Ovale Ductus Arteriosus 2

3 Transition at birth What does Ductal Dependent Mean? Umbilical cord cut First breath Increased oxygenation of lungs and blood Fetal Shunts close Can take hours to days in a healthy normal newborn Left sided obstructive lesions Systemic cardiac output supplied from the right heart via the DA Closure of DA results in obstruction to systemic output Cyanotic lesions May become MORE cyanotic at ductal closure if some or all of pulmonary blood flow has been supplied from the left heart via the ductus Measures % of hemoglobin in the blood that is bound to oxygen. Probe passes light through a thin part of the body such as a finger to a sensor on the other side. Sensor measures the absorbance of light by pulsing arterial blood. Oxygenated hemoglobin absorbs a different spectrum of light than deoxygenated hemoglobin Pulse Oximetry How does this add to the exam? Transition from blue to pink in the delivery room, as assessed by NICU staff who were blinded to the pulse oximeter reading. Average saturation considered pink 69% The Cyanotic Blind Spot Visible Cyanosis only is apparent with very abnormal saturations. The CYANOTIC BLIND SPOT is the gap between those saturations that are normal and those that result in visible cyanosis. The lower the hemoglobin, the wider the blind spot. The Cyanotic Blind Spot Example: Hemoglobin of 17.5 g/dl (50 th percentile) 83% 95% Abnormal Saturation Visible Cyanosis Abnormal Saturation No Visible Cyanosis Normal 78% 95% Example: Hemoglobin of 13.5 g/dl (5 th percentile) 3

4 Timing of Pulse Oximetry Screening Saturation increases through the first day By 24 hours the mean saturation of a term baby is 97.2% Screening recommended between hours of life Measurement of pulse oximetry before 24 hours leads to more false positives Differential Diagnosis of CCHD ANYTHING that can cause hypoxemia can result in a positive CCHD screen! Non-critical CHD Sepsis Respiratory Disease Metabolic Disease Pulse Oximetry Where to Screen Intended to be IN ADDITION TO, not INSTEAD OF newborn physical exam Screening Pulse Oximetry Screening Algorithm PASS 95% in right hand or foot AND 3% difference between right hand and foot FAIL <90% in either right hand or foot at any time Three repeat screens REPEAT 90-94% saturation in right hand AND foot Greater than 3% difference in oxygen saturation between right hand and foot 4

5 This is easier open on your mobile device and click the link to make this an app Is this the best algorithm? Current algorithm endorsed by the AAP, AHA, ACC, March of Dimes and the Newborn Foundation Almost universally adapted for use in most states New Jersey requires minimum O2 sat of 95% pre and post ductally Tennessee screens only postductal site (foot) and requires >97% to pass CCHD Infant Death Rates State Reports New Jersey Vermont Minnesota New England California Abouk. JAMA 2017 New Jersey New Jersey 7 Echocardiograms done due to failed CCHD with no significant findings 6 infants transferred to higher level of care due to failed screen 5/6 had potentially significant echocardiogram findings Evaluation -Aggregate screening reports with individual level reporting of failed screens. Moving toward individual level reporting 5

6 Vermont Rural experience Retrospective case series 73/60329 diagnosed with CCHD 31 (42%) diagnosed by prenatal US 34 (47%) diagnosed by exam 7 (9.6%) diagnosed after discharge 1 (1.4%) born at home 8 cases of undiagnosed CCHD 3/8 presented with cardiovascular compromise 1 TOF presented with abnormal o2 sats Total 5/8 cases would have been detected by screening Minnesota Pilot program as part of a state of preparedness study 7549 newborns 1 CCHD diagnosis 7 failed screens 2 failed screens were due to misinterpretation of algorithm 1 failed screen not reported 4 failed screens not recognized 115 needed repeat screen to pass 29% due to misinterpretation of algorithm Minimal cost New England (ME, VT,NH, RI) there were 91 cases of CCHD analyzed 44 detected post natal 19 detected by CCHD screening 21% of CCHD cases detected by screening 32% had to travel/transfer for diagnostic echocardiogram California 13,714 healthy newborns screened at 25 hours Mean preductal saturation 98.29% Mean postductal saturation 98.57% Mean difference between pre and post was 0.29% 99.5% of newborns had pre or post ductal saturations > 95% 99.5% of newborns had pre and post ductal saturations < 3% apart Peterson Case. Birth Defects Research 2017 California Protocol adhered to 97.7% of the time 42 (0.3%) protocol violations 35/42 failure to repeat a screen 1/42 ordered echo before repeating screen 6/42 failure to correctly call saturation < 90% fail 8 infants had pulse ox < 90% on first screen 6/8 not called fail had repeat screen and passed Role for repeating screens when pulse ox < 90%? Secondary Outcomes False positive rate of pulse oximetry screening 0.17% to 0.3% Between 30-70% of false positives are due to secondary outcomes Non-critical congenital heart disease Neonatal sepsis Respiratory diseases 6

7 Secondary Outcomes Infants screening with pulse oximetry prior to discharge. Echo if 2 failed tests 1 hour apart 15/5247 infants failed 2 infants diagnosed with sepsis 13 infants diagnosed with respiratory disease that required hospitalization and treatment 2 infants had CCHD 18/5247 infants passed not readmitted with pneumonia (2) and sepsis (16) Jawin V. Plos One 2015 Secondary Outcomes 11 infants with respiratory disease All asymptomatic at time of screen 2 Congenital pneumonia (1 with pneumothorax) 2 PPHN 2 Meconium aspiration 1 Vacterl with right lung hypoplasia 4 TTN No true false negatives in this study 18 (0.34%) had false positive screen Jawin V. Plos One 2015 Secondary Outcomes Source of significant morbidity and mortality Challenge to the current system Systematic tracking would allow: Better understanding of the benefits of pulse ox screening Adjustments in policy if appropriate Better use of resources Reduction in unnecessary echocardiograms Early Screening Oster Pediatrics 2016 Ewer Lancet 2011 A closer look: Findings: Primary Birmingham UK early pulse oximetry prior to discharge (before 12 hours of life) 208 admitted to NICU because of failed screen 5.8% of all NICU admission and 12.6% of unexpected NICU admissions Median age of admission was 7.5 hours of life 7

8 Findings: Secondary Early Screening: About half of babies with CCHD identified post-natally detected by screening Secondary findings high in early screen but also important 79 % of false negatives in this study had a significant illness requiring medical intervention Captures babies prior to discharge Increased burden on echocardiographers? 1 CCHD/100 echos when done for murmur prior to discharge 1 CCHD/6.8 echos when done for failed screen + assessment Addition of major CHD? Add auscultation at the time of pulse oximetry screening. Echo for any murmur > grade 2/6 or abnormal pulse oximetry screen Pulse ox alone 34/44 (77.3%) cases of CCHD 90/203 (44.3%) cases of major CHD Adding auscultation 42/44(95.5%) cases of CCHD 187/203 (92.1%) cases of CHD Hu Pediatrics 2018 Auscultation plus Pulse Ox Cardiac Auscultation increased diagnosis rates of: Aortic stenosis Coarctation Tetrology of Fallot 1860 False Positives 74 (4.3%) significant findings 32 sepsis 18 pneumonia 4 hypoglycemia 2 jaundice 1 NEC Hu Pediatrics 2018 Special Settings: NICUs Screening guidelines designed for asymptomatic babies in the newborn nursery Preterm babies can have lower oxygen saturations than term babies Many different approaches: Screen all comers Delay screen if on Oxygen No screen Screening in NICU The risk: benefit ratio of POS screening in the NICU remains undefined. The NICU likely represents an environment where both the necessity and inconvenience of POS are the least. A protocol which defers POS until issues of supplemental oxygen are resolved can be performed with a low false positive rate, but many babies will be screened long after ductal closure. 8

9 Special Settings: OOHB OOHB Wisconsin The rate of missed critical congenital heart disease appears to be substantially higher in the home birth community. 1/2684 vs 1/28,350 Screening for CCHD in OOHBs recommended by AAP 2013 Ng, Congenital Heart Disease, 2010 Lhost, J Pediatrics 2014 OOHB Wisconsin Special Settings: High Altitudes Lower oxygen saturations > 6800 The risk: benefit ratio of POS screening in the NICU remains undefined. The NICU likely represents an environment where both the necessity and inconvenience of POS are the least. A protocol which defers POS until issues of supplemental oxygen are resolved can be performed with a low false positive rate, but many babies will be screened long after ductal closure. above sea level Higher levels of false positives Modifications: Repeat pulse ox testing q 4 hours while awaiting echo Placing newborn in an oxygen hood while screening Delaying screening to > 30 hours of life Challenges in data collection State level data collection requires Authorization to collect data List of data elements to collect System to collect the data Not all states are collecting data Variations in data elements being collected 2012: Minimal data set was recommended (AAP) Need for optimal data set Role of Birth Defects Registries Trial study in New England to determine whether BDR data from 5 states could be compiled to evaluate CCHD screening Pulse Ox values frequently not part of the medical record Pulse Ox screening (yes/no) not always part of the medical record False positive results not monitored Burden and screening accuracy for secondary targets not available Focus on documentation and EMR Peterson Case. Birth Defects Research

10 Lessons Learned Adoption of CCHD newborn screening has been rapid and widespread Gaps in implementation: Confusion regarding the definition of CCHD Lack of conformity in the algorithms used Debate about appropriate evaluation after a positive screen Lack of infrastructure to conduct population level surveillance References Lhost J, et al. Pulse Oximetry Screening for Critical Congenital Heart Disease in Planned Out of Hospital Births. J Pediatr Miller, KK Pulse oximetry screening for CCHD in planned out of hospital births Peterson et a. JAMA Pediatr. 2014;168(4): Peterson et al. Birth Defects Research 2013: 97(10):