Pulse Oximetry Screening- The Saga Continues

Here’s my attempt to summarize the events from the Secretary’s Advisory Committee on Heritable Disorders in Newborns & Children (ACHDNC) on Friday in Washington DC.  I hadn’t slept in 3 days, and my brain was working overtime – but I can say that the preliminary report and the comments from those in attendance were very well received.

Next up, the External Review Workgroup (ERW) will continue to gather and collate findings and begin interviewing subject matter experts/technical experts.   A final report is expected at the September 2010 meeting.  The optimist in me says they will have what they need – the evidence will be compelling and overwhelming in favor of routine newborn screening with pulse oximetry.  What COULD happen, is that the committee comes back with additional questions or concerns and a gap report will need to be given to answer those before the actual vote happens.

For anyone who has missed this before, I’ll try to clarify a few points first.

1) Assuming a vote happens and the advisory committee recommends screening for heart defects to Secretary Sebelius, she has 180 days to act on the recommendation.  In this case, that means if she follows her committee’s guidance, Health and Human Services would make a formal announcement that is it recommending universal screening with pulse oximetry. It is NOT a mandate.  The way our laws are set up right now, it can’t be.  Whenever HHS adds a screening for a genetic disease or disorder to the newborn screening panel via this process, it is an automatic mandate.  Authorized by congress, each state department of health is required to begin conducting that additional screen.  The difference with pulse oximetry – like hearing screening – is that it is NOT conducted by a department of health staffer (they are the ones who come and do the heel poke and collect the blood spots).  It is conducted by hospital nursery staff.  It’s still reported to the department of health similarly, but someone doesn’t come into the hospital from outside and conduct the screen.

So as it stands, there are two future paths:

1) After the Secretary’s recommendation, each state will need to pass language mandating pulse oximetry screening at the healthcare provider level.  This would largely be a formality after the HHS recommendation.  We saw with hearing screening that more than 50% 0f the hospitals started implementing the screening as a standard of care after the formal recommendation – but before legal mandate.  The rest started falling into line shortly after.  I’ve been told that we should expect an even greater adoption rate upon HHS recommendation than with hearing screening.

2) Language could be introduced at the federal level that would make this screening (and potentially other “physical” screenings such as the one for severe jaundice) mandatory.  Congress has the power to authorize this change.  But it will be a moot point until we have our formal recommendation through the Secretary of Health and Human Services.

Hope this makes sense…

On to the meeting…I could fill 40 pages with the names of people and organizations that are advocated for early detection of congenital heart disease…but specific to Friday, will take this opportunity to express gratitude to the following.:

Vi Kennedy – the founder of Bless Her Heart and mom to Taryn who died suddenly and unexpectedly January 2009 of an undiagnosed heart defect at one month old.  She spoke boldly and eloquently on the need for pulse ox screening.

Dr. Olivia Easley – mom to Veronica, who died unexpectedly last summer of undetected TAPVR at 7 weeks of age. Her testimony was powerful and emotional.  It was gut-wrenching…and so important for the committee to hear.

Elizabeth Bradshaw – the super-woman who heads the pulse oximetry screening program at Children’s National in Washington DC – and is growing it to hospitals around the country (and overseas).

Dr. Gerard Martin – also from Children’s National, for providing the most compelling medical commentary on this topic that the committee could ever hope to hear. Instant rockstar status.  I actually strolled right up to him after and bear-hugged him.  Poor man surely thought I was a complete weirdo…

Mona Barmash – for always being on the front lines and a resource to so many – on pulse ox and everything else associated with CHD.

Karin Coulter – founder/executive director of Saving Little Hearts.  She is passionate about newborn screening for CHD and has been an advocate and resource on the topic for a very long time.

The ACHDNC – for going through this process. The wheels can move slowly, but they are committed individuals and I have great respect for the work they do in trying to ensure newborns are screened for diseases and disorders that can easily be missed in those early days of life.

Process

So, as you recall, the nomination for universal screening for CCHD was made at the January meeting (this group meets only 3 times per year).  As the committee also voted to move this nomination to its top priority, an External Review Workgroup was assigned to immediately begin a diligent evidence review process that will allow the group to report back to the full committee prior to making its recommendation.

The interim findings were presented in a report by Dr. Alex Kemper from Duke University  - who is heading up the External Review Workgroup.  A workgroup like this is assigned after any condition has formally made it through the nomination process with the ACHDNC.  Before diving into the specifics of their work on pulse ox screening, he laid out some general parameters for the workgroups.

First they must define the condition and if the screening itself can:

Decrease mortality

Decrease morbidity

Improve quality of life

The workgroup must look closely at potential harms such as:

False positives

Difficulty establishing diagnosis

Carrier identification

Identification of an adult onset

Level of prognostic info

Lack of health services

Dr. Kemper made some suggestions about how the committee approaches the workgroup model – perhaps incorporating a technical expert panel with final approval from nominations workgroup.  He also stated that the committee should consider making the process more open and transparent, perhaps utilizing the public comment/web model and allowing stakeholders to share in the analytic framework.

Definitions

Getting back to definitions, I posted earlier about the difference between CHD and CCHD (critical congenital heart defects/disease).  For the committee’s purposes, the definition has taken another leap, now to CCCHD - Critical Congenital Cyanotic Heart Disease.

CHD covers the full spectrum of defects.  CCHD has typically been defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise is defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention.  It is notable that both Children’s National hospital in Washington DC and the committee seem to be using definition of heart disease that requires significant intervention in the first YEAR of life, not the first month.

We actually have this on our meeting agenda this week for the Minnesota pulse ox program team – to provide clarity on our data and IRB materials as well.

CCCHD, or C3HD as Dr. Kemper calls it, is identified specifically by hypoxemia in most or all cases.

By way of calculation, approximately 25% of all CHD cases are actually CCHD cases, and most of those are associated with hypoxemia, which would make them CCCHD.

For this initial report, Dr. Kemper’s team has defined the following defects as the ones are most detectible by pulse ox screening.  Note: these align almost exactly with the findings from Dr. Julien Hoffman’s recent paper advocating for routine neonatal pulse oximetry screening (with permission, will be posting this paper).

Coarctation of the aorta – COA

Tetralogy of Fallot – TOF

Transposition of the Greater Arteries – TGA

Tricuspid atresia

Total anomalous pulmonary venous connection – TAPVC

Trunctus arteriosus – TA

Interrupted aortic arch

HLHS

The three experts thus far defined by the ERW as technical experts include:

Robert Beekman MD, Kaplan Professor of Pediatric Cardiology; and co-director of the Heart Center at Cincinnati Children’s Hospital Medical Center.

Robert Koppel, MD, Neonatology, Steven and Alexandra Cohen Children’s Medical Center/Associate Professor of Clinical Pediatrics at the Albert Einstein College of Medicine.

William Mahle, MD, Medical director of clinical research at Sibley Heart Center Cardiology in Atlanta; Associate professor of pediatrics at Emory University School of Medicine.

Methods for Evidence Review

The team will continue to review new literature and data as it becomes available between now and its final report and phase 2 will include consultation with Investigators and advocates (establishing and vetting this list).

Dr. Kemper’s group reviewed 11 articles that met their abstraction criteria for the preliminary report.  Moving ahead, the team will be looking at a couple of fluid areas:

1) literature confirming incidence of CCHD – some studies show 1 per 10,000, others who 25 per 10,000 births.  All but two of the studies examined in the preliminary findings reported a specificity of greater than 99%.  Sensitivity of pulse ox screening was variable – from 45-100%.  They are not sure about the reason for this either, but it is less vital that the specificity rating.

2) How much does pulse ox screening increase the number of cases identified in newborn nursery?

3) Natural history – including spectrum of severity of CCCHD not identified prenatally.

4) Does pre-symptomatic or early symptomatic intervention in newborn with CCHD improve outcomes?

5) Economics surrounding diagnosis and treatment of CCHD/

We already know the committee is very interested in having the ERW address potential harms and the availability of diagnostic and treatment services in its final report, including telemedicine and health IT components.

Comments from Committee Members

Comments from the committee were interesting…

One committee member noted that the test for this condition represents something “new” for them.  They have had representatives around the table for blood spots (i.e. public health participants), but not for how HOSPITALS are directly impacted by a screening like this.  It was recommended that they need to include the healthcare workers in newborn nurseries.

We agree.

Just to show there is certainly still a learning curve on this particular screening: there was a question as to whether pulse ox screening would be part of a routine health department follow up for patients/families.

The obvious answer is no.  There are many parallels to hearing screening in that pulse ox is a “physical” screening conducted by hospital staff (and not department of health staff as with the blood spot screens) – and that the reporting of the data along with other screening results can be similar.  The pulse ox screening is unlike hearing screening in that the results are immediate – and immediately reportable.  In other words, a baby would never go home from the hospital and find out their pulse oximetry results AFTER discharge.

Another committee member asked how good in pulse ox in identifying non-blue babies? Basically he wants to know how many are picked up clinically – to compare and contrast clinical exam detection and prenatal detection with pulse ox detection.  He added that the treatment of these isn’t in question, but that not all babies need to be acted on within hours.

While this is true, babies often DO need to be acted on within hours.  That is the whole point.  Not to mention that there are still many babies MISSED even at pediatric well visits.  Some hospitals look further into murmurs, but most don’t.   Parents are usually given the “innocent murmur” speech – and told they will follow up at the well visits. And there are alot of babies MISSED even at pediatric well visits.   Dr. Fleischman’s points are vital and accurate – but rural kids will be more likely to be identified…not less.

There were some concerns about the integrity of the subject matter expert interviews.  Dr. Perrin (who heads the ERW process and assigns the team) stated that they are very careful to only ask for data, not opinions.

It’s hard to have someone that is an expert in anything that does not have a bias based on that expertise.  I would suggest that there is great value in opinions. These physicians are on the front lines of treating pediatrics heart patients – their opinions matter.  If decisions about how to treat these babies were based strictly on data….I shudder to think of what the outcomes would be.

Next up was the public comment period.  I would have loved to have transcribed what Olivia and Vi presented to the committee here – but I was simply too emotional to take notes through it.  Their stories made my heart ache and my eyes swell.  I can only say that I’m grateful beyond words for their willingness to dig deep through their pain to ensure others will not have to endure it.

Annamarie Saarinen (Eve’s mom, 1in100) comments to the committee:

“I was here 4 months ago – in January when screening for CCHD was nominated. Since then more than 3,500 babies have been born in this country with congenital heart defects.  As many as 1200 of them went home from the hospital without anyone knowing they had a heart defect.  Based on Dr. Kemper’s report, about 875 of the 3500 had CCHD.  They needed – and deserved – early diagnosis and early treatment.

In January you all decided screening newborns for critical congenital heart disease was important enough to nominate for further review.  I’m not sure you hear this enough – but the work being done in this room, by this committee, is saving lives.  There are many good people working across the country to ensure the right clinical information is there to back this up as a standard of care.  I believe in this process.  I respect the difficult and methodical work being done.  And I’m convinced the evidence will speak clearly.  In the meantime, thank you again for your efforts – and for allowing us to participate.”

Dr. Gerard Martin, Children’s National, Washington DC comments:

In a nutshell, Dr. Martin stated that he was late to the game.  He finally went through the literature, much like the ERW is.  It needs to be understood that this the most common birth defect.  That Olivia and Vi’s babies are not isolated incidents.  This happens all ths time.  He actually mentioned that he had reached to Mona Barmash asking about screening.  She told him, the same thing I did…not a week goes by that we don’t hear from families who brought their babies home undiagnosed.  The outcomes vary greatly – from compromised clinical status, to heart failure to death.

Dr. Martin stated that the fetal echo (ultrasound) detection rate is 30% at best. Physical exam catch CHD 50% of the time. Basically, it’s a coin toss.  Pulse ox does have misses…but far more catches.  Without early diagnosis, the babies missed come back in shock, their outcomes uncertain.

Washington National has screened 7,000 babies in the past year.  They had 3 false positives.   For defects such as COA, the specificity has been well over 90%.  With good equipment at 24+ hours screening, it is at 99%.  If a screens below 95%, but does not have a heart anomaly, we need to KNOW IT ANYWAY.

Things such as pneumonia, sepsis, neonatal lung disease, PKEM, all lead to low oxygen saturation.  And they all need to be identified and treated.

He went on to say that hospital impact is important – implementation is key.  They are implemented at 11 area hospitals now, some as far as 100 miles away.  They are also implementing at 2 hospitals in the Middle East.