So happy the Journal of Neonatology picked this article up in June.  It is thorough.  It is clear.  And it’s preaching to the choir at 1in100…

Thank you Dr. Hoffman and colleagues for your research and valuable opinions on this topic.

Hopefully Nike won’t mind if we borrow their tag line for a bit.

So many of us want to do something, anything, to move things along with newborn screening for heart defects.  There is a whole lot of really amazing work being done – by individuals, organizations, policy officials, and medical professionals.  But what about grassroots stuff.  That’s really where we make a difference.  For what it’s worth, I wanted to share some information that has been helpful to me along this advocacy journey – along with a template letter folks can use to email or write their own hospital or health system on pulse ox screening for heart defects.

You may see this in a few other spots, as my good heart friends and advocates have offered to post it around for maximum deployment (not assuming the role of General on this project, I’ve just been having fun using military terminology lately!)  To be honest, this feels like bit like a military campaign to me.  It will take that level of coordination and precision to execute. Make no mistake, we are on the winning side of this one.  Not a doubt in my mind.

So with this, I try to explain a few things…and as always don’t hesitate to reach out directly with advice, insights or questions:

1. 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  favorable subcommittee report on pulse oximetry was presented by Dr. Piero Rinaldo from the Mayo Clinic, who is a voting member of the committee as well as a MN Advisory Committee member and counsel on our Minnesota screening pilot.  I also provided testimony.  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 also  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.

2. You’ll see the use of the term Critical Congenital Heart Defects (CCHD) above – and in the outreach letter below.  Most folks aren’t really familiar with this term (I know I wasn’t until a few months ago).  Here’s the deal – in terms of numbers: if of 1 million babies born, 10,000 will have CHD (1%), 1/3 of those will have CCHD, and it is anticipated that at least 1/5 of those will go home from the  hospital undiagnosed (but as many as 1/3 in some figures).

By definition, CCHD are defects/lesions that are ductal dependent or may surgical or invasive intervention or result in death in the first 30 days of life.

It’s also interesting to note which “types” of defects are most often missed during routine exam alone.  This isn’t to suggest that other defects (like Eve’s) do not also go undiagnosed, but here is the list, in order of prevalence in missed diagnosis: 1. Coarctation of the Aorta (COA) 2. Interrupted aortic arch 3. Aortic stenosis 4. Hypoplastic Left Heart Syndrome (HLHS) 5. d-TGA 6. Truncus arteriosus 7. Tetralogy of Fallot (TOF) 8. TAPVC.

3. The External Review Workgroup is tasked with a very thorough review of existing and emerging information as it relates to screening with pulse oximetry.  Their work must ultimately answer 6 key questions, which I will attempt to state less technically – and answer from the perspective of the medical team I’ve been working with on this so far:

Is there direct evidence that screening for the condition at birth leads to improved outcomes for the infant or child?

Yes, absolutely.

What is the incidence and prevalence of the condition? What is the spectrum of the condition, including impact of early recognition and treatment vs later recognition and delayed or no treatment?

At 1 in 100 (or 1 in 125, depending on who you ask), the incidence of CHD is 10-fold that of the next nearest condition prevalence that is on the 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.

There are nearly 40 different types of congenital heart defects – and many slight variants within each of those.

There is no question that early recognition of CHD impacts outcomes significantly.  Undiagnosed babies can suffer from significant medical complications, developmental delay, learning disabilities, and/or physical disabilities related to brain injury.  These babies spend far greater amounts of time in the hospital and require more invasive procedures to address their condition.  In the worst cases, these babies die for lack of early intervention.

Is there a screening test or algorithm for the condition with sufficient technical accuracy?

Yes.  Screening with pulse oximetry on the right foot or a combination of the right foot and an upper extremity at 24+ hours after birth has shown false positive rates of less than 1/3 of one percent (.034).

Has the clinical validity of the screening test, in combination with the diagnostic test, been determined and is it adequate?

Yes. After a second pulse ox reading below 95% saturation, babies are referred for further cardiology study and an echocardiogram to effectively diagnose the type and severity of the defect (or other potentially serious lung or respiratory issue).

The only sticky issue here is for outlying hospitals…basically deliveries not near major medical centers.  The pulse ox test isn’t the problem, it is having personnel on hand to conduct an effective pediatric echocardiogram.  This is NOT something every hospital has.  So the concern becomes, what happens to the baby with low oxygen saturation that can’t get the required diagnostic test to determine how serious the issue is.  The answers are emerging, but not complete.  Our Minnesota study is playing through on a training implementation that would ensure echo technician have the training needed to conduct a “mini-echo” that would give a pediatric cardiologist in the nearest major medical center (via telemedicine) enough info to accurately diagnose the baby – and determine if he/she needs immediate transport, or can be treated safely where they are at.

What are the benefits associated with use of the screening, diagnostic tests and treatments?

Obvious.  Early diagnosis with the help of screening leads to earlier intervention and higher success rates.   I could go on for days on this…but ’nuff said.

How cost effective is the screening, diagnosis and treatment for this disorder compared with usual clinical case detection and treatment?

A recent study shows a seven-fold reduction in missed diagnosis of critical congenital heart defects using pulse oximetry as a supplemental screening tool VERSUS routine clinical exam alone.

4. In terms of answering the questions above, the review workgroup will be looking at existing data and emerging information.  It is obvious that the more health care facilities that are screening, the more information can be funneled in to the experts.  That said, we want any hospital that is interested in starting pulse ox screening to utilize a tested and acceptable algorithm…in other words, we don’t want them screening babies a 4 hours old.  They will get a disproportionately high level of false positives (babies still have transitional circulation that soon after birth).  Obviously, unnecessarily high false positive test rates don’t help this effort.  I am happy to connect any health care professional expressing interest with the medical team here to share the endorsed algorithm and protocol being used – and recommended for the national committee.

Until everyone in nurseries everywhere can confidently detect CHD, pulse ox is needed. It demands, care, consistency and expertise – as well as the best equipment.  But that’s no different than the requirements for any test.  RIGHT NOW, pulse oximetry is capable of detecting other undiagnosed CCHD with an incredibly low false positive rate – and with costs that are less than those of currently mandated screening tests.

So until the public policy world – and some of our friends at the health care community catch up, the advocates among us will do what we can to help hospitals get a jump start on saving and improving lives.  I recommend sending it directly to someone you may know first (your pediatric cardiologist, nurse or surgeon).  If you know someone in administration, that is fantastic too.  Otherwise, I would shoot for the chief of pediatric cardiology or the chief of pediatrics.  Either of those titles should hit the mark.

Here’s a link that will show you the website and address of every hospital in the US, by state: http://hospitalandmedicalcentercompare.com/by-state

Click here for the Word document file.

And here’s content of the letter.  With an optimistic heart….just do it. 
Physician/Administrator

Hospital/Health System

ADDRESS

DATE

Hello,

I am writing as the parent/friend/family member of a baby born with a congenital heart defect – the world’s most common birth defect.  Nearly 40,000 babies will be born this year with a CHD in the US alone.  For now, most are identified with visual cues, a stethoscope, an x-ray, EKG or echocardiogram.  Sadly, anywhere between 25-40% of CHD’s go undiagnosed before or at birth – and those babies are sent home without intervention.  Many “common” murmurs are left to re-evaluation at the baby’s one-week well visit. In a short period of time, these undiagnosed babies can suffer from significant medical complications, developmental delay, learning disabilities, and/or physical disabilities related to brain injury.  In the worst cases, undiagnosed babies die.

The good news is that there is a simple, non-invasive screening tool available at every hospital in this country Pulse oximetry has been proven effective in detecting low oxygen levels in the blood – a significant marker for heart issues in newborns.  When administered at the appropriate time after birth, the test has a false positive rate of just .034%.  It is over 99% accurate.  A recent study shows a seven-fold reduction in missed diagnosis of critical congenital heart defects using pulse oximetry as a supplemental screening tool. When pediatricians or other medical professionals have this tool to use in conjunction with their traditional physical exams, they can make important decisions, at a critical time, to look more closely at a child’s heart and lungs before discharge.

Fortunately, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) – which is the national committee that reports to Health and Human Services has recently made screening for Complex Congenital Heart Defects its #1 priority.   A favorable subcommittee report on pulse oximetry was presented by a voting member of the committee and the issue is moving through the next stage of the process before Secretary Sebelius would receive the recommendation for universal screening.

There is clear consensus that CHD is a serious condition that affects a significant population (1% of babies born), that early identification leads to better outcomes, and that pulse oximetry is a suitable screening test.

Additionally, there are pilot programs currently in place that are evaluating the best ways to ensure the screening and subsequent diagnostic process is adoptable by a wide range of birthing centers, even those that lack on-site pediatric cardiology expertise.

I hope you will consider conferring with your leadership to voluntarily begin pulse ox screening for all babies before discharge.  An increasing number hospitals and health systems across the country have already begun screening for heart defects as a standard of care.  Those institutions are reporting that early identification is indeed improving outcomes and saving lives.

If you would like more information on the algorithms and protocols currently being used successfully at other hospitals, I would be happy to connect you with the team working on this at the national level.  In some circles, this has been coined as “the 5th pediatric vital sign”.  In an age of consumer choice in healthcare, we know expectant mothers gravitate to the hospitals and birthing centers that offer the largest array of clinical support in determining the health and well-being of their newborn.  I hope this will become a standard of care at your facility NOW – allowing you to have an edge even before the national mandates happen.

On behalf of the thousands of CHD babies who will not see their first birthday this year, I thank you for your consideration of this vitally important issue.

Sincerely,

XXX

Presentation to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

January 21, 2010

Dr. Howell, Ladies and Gentlemen of the Committee,

Thank you for the opportunity to be here today. My name is Annamarie Saarinen. My daughter Eve was diagnosed at 2 days old with a severe mitral valve defect and enlarged heart. She was very nearly sent home – and was in complete heart failure at 5 days old.  24 hours later, she was also diagnosed with SVT and Wolf Parkinson White Syndrome.  In other words, she would never have made her one-week well-baby visit.

During those first weeks, I learned how fragile life is.  I learned that 1in100 babies are born with a heart defect – the world’s most common birth defect – and that nothing I did caused us to become that 1in100.

I also learned to rely on a small monitor that stayed wrapped around Eve’s foot.  It was a pulse oximeter – measuring the oxygenation in her blood.  The phrase “what are her sats today” became part of our vernacular.  Above 95%, we’re good.  Below, her heart wasn’t working the way it needed to.

While most textbooks identify nearly 40 different heart defects, Dr. Jack Rychik, at CHOP says 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 1/3 of CHDs are diagnosed prenatally.  That leaves 2/3 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 indeed detect otherwise “silent” heart defects. More than 60% of defects can result in mild desaturation (like Eve’s) not detectable with the eye, but readily detected by pulse oximetry. Simply put, pulse oximetry DOES increase detection of true CHD over exam alone. And 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.

I believe the nomination process will clearly show that postnatal screening to identify CHD should be a vital part of normal newborn care.  There are many fine institutions in this country that already realize this and are screening without mandate, including Regions Hospital in Saint Paul, Mary Bridge Pediatric Heart Center in Tacoma, and Children’s National Medical Center right here in Washington DC.

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

I understand the role of this committee in ensuring that suitable newborn screening tests are developed and safe, effective treatments are available for implementation.

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.

I am very respectful of the need for fiscal responsibility in health care  – but have little patience for more babies struggling or dying needlessly.  In the past 3 months alone, I personally know several families who have buried their babies due to undiagnosed heart defects.

Eve’s heart had about a week left when we flew her to Boston for open heart surgery 9 months ago.  Today, she is proof that medical professionals can work their magic on babies with severe heart issues – BUT ONLY when they are given the timely opportunity to do so.  I look forward to the opportunity to keep you informed as our own Minnesota study moves forward supporting the other clinical data pointing to the efficacy of pulse ox screening.  On behalf of the 40,000 US families whose babies will be diagnosed with heart disease this year – and the 4,000 who will not see their first birthdays, I sincerely thank you for your commitment to the health of newborns and children.

~Annamarie Saarinen, 1in100

———————————————–

*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

Our heart community took some major hits this week…we lost some very, very precious babies here on earth.  But the angels in heaven gained some new playmates.  I think many of us take the greatest solace in the messages from those parents who have already experienced loss.  Levi Beers (Aiden’s dad) never fails to put the faith back in one’s soul. http://mysonisanangel.wordpress.com/   I am grateful for his counsel and friendship.

And there are so many more…Cora’s mom, Kaia’s mom, James’ mom, Allie’s mom…

Despite their still-fresh grief, they reach out to CHD families and GIVE.  I saw a post from Stephanie, Kaia’s mom, that said she would be sure to have Kaia look for Hazel and Pierce in heaven…show them around, ya know.  Just that visual image provided such comfort and peace.  I have yet to see anything more tragic than a coffin the size of a shoe box.  It’s wrong in every way.  But hearing the hope directly from these parents…that is pure light.

And in the middle of all the darkness this week – there has actually been a good deal of light.

There were two things that I started working on last summer – after Eve’s surgery.  Newborn screening for heart defects.  And pediatric heart devices for surgeons.

Those two things became the cornerstone priorities of 1in100.  There is clearly so much to do in the wide world of CHD.  But for the moment, these were the things I truly thought weren’t getting enough traction.  And that I might have some of the tools to tackle.

So this week – strangely enough, BOTH of these priorities saw major breakthroughs.

1in100 Priority 1 – Newborn Screening/Early Detection

This coming week, for the first time in memory, there will be an official report on the agenda at the national Newborn Screening Advisory Committee meeting in Washington DC.  It will be presented by the Mayo Clinic doctor that is on the Minnesota committee and that has been advising on our pulse ox pilot study here.  I will be providing comments at this meeting – and the next step is to submit the formal nomination to make universal screening for CHD at “standard of care” for all newborns.   Anticipating this will happen as soon as February.

On a related note, there are at least two CHD screening bills at the state level that have been introduced in recent weeks.  Cora’s Law and Chloe’s Law are both making headway.  Kudos to Kristine http://instructionsarenotincluded.blogspot.com/ and Kelly http://chdbabies.blogspot.com/ for their passion and drive.

1in100 Priority 2 – Pediatric Heart Devices

Six months ago I made the rounds with heart device companies to find out why it’s so damn hard to get pediatric size devices into the hands of surgeons operating on tiny hearts.  Some reasons? FDA restrictions, small market, too much R&D, too long…been keeping at it regardless, even provided testimony at an FDA workshop in the fall.  Fast forward: Email from a major heart valve company. As of this week, they are working to develop a pediatric heart valve!!  Everyone (FDA, Industry and Physicians) have now made commitments to the speedy clinical study and introduction of pediatric valves with proven safety to the market.

Stunned and grateful.  I could have never imagined so many good people would mobilize, so quickly, to move these initiatives forward in such a meaningful way.

http://mendedlittlehearts.wordpress.com/advocacy/