Tag Archives: SACHDNC
HHS Adopts Recommendation to Screen Newborns for Heart Defects

HHS Adopts Recommendation to Screen Newborns for Heart Defects

Word came late this afternoon that HHS Secretary Sebelius has adopted the recommendation to add Congenital Cyanotic Heart Disease to the Recommended Uniform Screening Panel.  You can see the formal newborn screening for CCHD recommendation here.

This has been a long time coming.  Many good people and organizations were working toward the early detection of heart defects for many years before Eve Isley was born…but her life, and her spirit helped inspire many to move this down the pipeline toward a federal recommendation to screen every newborn in this country for heart defects using pulse oximetry.  It’s a good day for babies and families.

Many thanks and  gratitude to the countless individuals and organizations who supported this – in the early days, and just recently.

Many thanks to Secretary Sebelius and her staff for taking the initiative to dig deeper and get the answers required to ultimately back a population health issue that will save and improve lives.

Many thanks to the federal advisory committee (SACHDNC) – and it’s diligent, poised and passionate leadership – that voted to recommend this screening one year ago (Dr. Howell, may your commitment to newborns and children will be emulated by many).

Many thanks to the CDC, HRSA, NIH, AAP, AHA, ACC, March of Dimes, and countless physicians, advocates and public health professionals who stepped up last winter to work on a strategic framework for implementing this screening.

And many thanks to this community.  Through 1in100, we have known the grace and strength of families willing to drop everything and help each other through the unthinkable.  Continued hope and healing to all those touched by this wicked disease.

This was a battle worth winning.  The war continues.  We are ready.  #1in100

Up Next: Newborn Screening for Heart Defects

Up Next: Newborn Screening for Heart Defects

The Department of Health and Human Services just held a stakeholder call to update on the status of the recommendation to screening newborns for CCHD with pulse oximetry. Given the 5 recommendations related to this screening, the Secretary has found several items she would like to have further clarification on to move forward with the screening (see the original recommendation letter here). 

It was clearly stated that the Secretary recognizes the critical importance of CCHD, and has requested further efforts be undertaken immediately to work through the issues surrounding the pulse ox technology itself, follow up diagnostics, service infrastructure, and education. The Newborn Screening Saves Lives Act (of 2007) required the formation of a supplemental Interagency Coordinating Committee on Newborn and Child Screening issues. This committee includes directors of the CDD, HRSA, NIH and AHRQ. The committee has been IMMEDIATELY tasked with reviewing the original SACHDNC five recommendations, any gap areas, and the document produced from the Implementation Workgroup – their goal is to close the gaps. It is the committee’s first order of business…and they have 90 DAYS to provide a plan of action.

Here’s what I know. Without the outreach all of you did, sharing your support and personal stories, this important secondary advisory committee step wouldn’t be happening. This was going down the road of being an averted recommendation. Now it’s not.

So while we might not have the green light quite yet, the motor is running and the car is in gear. Please accept my profound gratitude for all you continue to do to support early diagnosis of heart defects.

I can be honest here, with all of you. These last 10 days have been hard. a hundred hours of time, anxiety, nausea, all of it. My first reaction to the 90 day delay was this: in 90 days, 1,000 more babies will die – and realistically, 200-300 of them will be contributed to by late diagnosis.

But I also realize there is solid intent on the part of the federal stakeholders to get this right. In that spirit,  let’s support this effort, continue the work already being done, and look forward to widespread implementation of newborn screening for CCHD.   #1in100

24 hours. Make an impact.

24 hours. Make an impact.

Surreal Day Part 1: Today marks Eve’s 2-year rebirthday.  April 13, 2009, Dr. del Nido and his team stopped our 4 month old baby’s heart for 6 hours, repaired it, and started it again.

Surreal Day Part 2: Following some weird arrhythmia this week, I canceled my DC trip and headed in for morning echocardiograms, EKGs and evaluations for a very crabby 2-year-old (needless to say, these exams don’t exactly get easier past infancy) at U of M Amplatz Children’s, (where Eve spent 4 months of her life in as a newborn). Results were awesome – echo and EKG looked great…just keeping an eye on the heart rate moving forward.

Surreal Day Part 3: Then it was off to Fairview Southdale Hospital in afternoon for a late day in-service training session on pulse oximetry screening for heart defects.  This was attended by administration and newborn nursery directors from 5 large hospitals.  The Minnesota rollout continues.  Dr. Kochilas and Dr. Thompson presented screening protocols and educational materials. We also talked about health IT and how much easier this will get to report results over time.

This is also the hospital where I gave birth to Eve (and our other children) and where she was first diagnosed with heart failure.  Surreal.

Surreal Day – Part 4: It is coming down the wire.  On October 15, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children sent a letter to Secretary Sebelius recommending all newborns be screened for Critical Congenital Heart Disease using pulse oximetry.  She has 180 days to respond – which means until the end of this week.

Over the next 24 hours, it seems like a great idea to rally.  That means contacting the Secretary, and asking congressional members to reach out to the Secretary on the impending federal recommendation to screen all newborns for CCHD.  The next 24 hours are critical.  This is the path to saving lives.

Here’s what individuals, families and organizations can do, if possible.

1) Reach out to Secretary Sebelius at Health and Human Services to let her know of your support for screening for CCHD.

During business hours, call 202-690-7000.  After hours, there is VM comment line: 202-205-5445

Email your personalized letter/note to the Secretary at: Kathleen.Sebelius@hhs.gov

You can copy and paste your letter right into the email.  Use the subject line:  “Support Newborn Screening for CCHD”

2) Reach out to your members of Congress to share your support and ask them to weigh in directly with Secretary Sebelius.

Use this link – it’s quick and easy way to find your delegation, with emails and phone numbers:


3) Email the appropriate version of these letters – one for Secretary Sebelius: Family letter_HHS_NBS CCHD

and one for a Congressional member:  Family letter_Congress_NBS CCHD

Or just use them for talking points if you are calling (or do both!)  You can customize however you’d like.  The more personal the better.

Here’s the background briefing we’ve been using with leadership as well.

4) Share with your contacts.  The online CHD community is powerful and beautiful thing.  When it mobilizes, it rocks.  If you need more, Cora’s mom has compiled one of the best online resources for pulse ox info at Cora’s Hopes and Dreams:

5) Let me know what you are hearing from your outreach at Facebook.com/1in100.  I suspect this is not on the radar of most elected officials – use it as an opportunity to make them aware of CHD and what can be done to save lives and improve outcomes through early diagnosis.

P.S. Since this is mission critical, I don’t have the time (or talent) to include the links to every online site and Facebook page that can help with this…but there are many.  Grateful for every single one.


One Step Closer…

One Step Closer…

…to routine pulse ox screening for every newborn. The federal advisory committee sent this letter to Secretary Sebelius on Tuesday.  Now the Implementation Workgroup has some serious work to do.  It’s been a wild ride, but improving early detection was 1in100′s first and most important priority from day one.  This has been an amazing milestone…

October 15, 2010

The Honorable Kathleen Sebelius
Secretary of Health and Human Services
200 Independence Avenue, S.W.
Washington, DC 20201

Dear Secretary Sebelius:

The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (the Committee) is charged with making systematic evidence-based and peer-reviewed recommendations that include the heritable disorders that have the potential to affect public health significantly, for which all newborns should be screened. Thus far, nine conditions have been sent to the Committee for consideration of an evidence review and for consideration for addition to the Committee’s Recommended Uniform Screening Panel. In May 2010, Severe Combined Immunodeficiency (SCID) was added to the panel. During the May 13-14, 2010 Committee meeting, the Committee voted to not recommend the addition of Hemoglobin H to the Panel. At the Committee’s most recent meeting on September 17, 2010, the Committee reviewed a final draft report of the evidence review for Critical Congenital Cyanotic Heart Disease and voted to add this disorder to the Panel.

Congenital Heart Disease is an overarching term describing a spectrum of clinical outcomes derived from any number of defects that are present in the structure of the heart at birth. Specific defects may involve the interior walls of the heart, valves inside the heart or the arteries and veins that carry blood to the heart or out to the body. These varied congenital defects change the normal flow of blood through the heart, leading to a range of conditions and symptoms. Congenital Heart Disease affects about 7 to 9 of every 1000 live births in the United States and Europe and is the most common cause of death in the first year of life, with defects accounting for 3% of all infant deaths and more than 40% of all deaths due to congenital malformations. Critical Congenital Heart Disease is a group of defects that cause severe and life-threatening symptoms and require intervention within the first days or first year of life.

Current methods for detecting Congenital Heart Disease generally include prenatal ultrasound screening and careful and repeated clinical examinations, both in the nursery and as part of routine well-child care. Critical Congenital Heart Disease is often missed during the routine clinical exam that generally is scheduled prior to a newborn’s discharge and many cases of Critical Congenital Cyanotic Heart Disease are missed by discharge and post-discharge clinical exams. A large epidemiological population-based study showed that 78% of cases with hypoplastic left heart syndrome (HLHS) were discharged from hospital before diagnosis. HLHS is universally fatal without surgical intervention, sometimes within the first days of life, and the vast majority of deaths in this patient population occur within the first months of life. Fetal ultrasound screening programs improve detection of major congenital heart defects; however, prenatal diagnosis alone picks up less than half of all cases.

Newborn screening using pulse oximetry for detecting Critical Congenital Cyanotic Heart Disease was examined by the Committee’s evidence review workgroup. Pulse oximetry is a method to augment current approaches (clinical exam and prenatal ultrasound) for the detection of Critical Congenital Cyanotic Heart Disease. Newborn screening using pulse oximetry is a test that occurs at the bedside (in the nursery or otherwise) similar to newborn screening for congenital hearing impairment. Pulse oximetry is a non-invasive test that estimates the percentage of hemoglobin in blood that is saturated with oxygen. While some types of Critical Congenital Heart Disease may present with hypoxemia, they do so only some of the time and are therefore less likely to be detected by pulse oximetry screening. Neonates with abnormal pulse oximetry screening results need confirmatory testing for the cause of the cyanosis, and immediate intervention. Virtually every hospital, even small ones, frequently uses pulse oximetry as a standard of care in their newborn nurseries.

When developing its recommendations to the Secretary, the Committee considers the nature of the science itself underlying the potential additions of the technology and the heritable conditions to the Committee’s Recommended Uniform Screening Panel as well as the public health implications of implementation. Although there are recognizable evidence gaps (for example, standardization of screening protocol) there are compelling reasons for recommending screening newborns for Critical Congenital Cyanotic Heart Disease.

The Committee therefore recommends the addition of Critical Congenital Cyanotic Heart Disease to the Committee’s Recommended Uniform Screening Panel with the understanding that the following activities will also take place in a timely manner:

1. The National Institutes of Health shall fund research activities to determine the relationships among the screening technology, diagnostic processes, care provided, and the health outcomes of affected newborns with Critical Congenital Cyanotic Heart Disease as a result of prospective newborn screening;

2. The Centers for Disease Control and Prevention shall fund surveillance activities to monitor the Critical Congenital Cyanotic Heart Disease link to infant mortality and other health outcomes;

3. The Health Resources and Services Administration shall guide the development of screening standards and infrastructure needed for the implementation of a public health approach to point of service screening for Critical Congenital Cyanotic Heart Disease; and

4. The Health Resources and Services Administration shall fund the development of, in collaboration with public health and health care professional organizations and families, appropriate education and training materials for families and public health and health care professionals relevant to the screening and treatment of Critical Congenital Cyanotic Heart Disease.

The Committee fully recognizes that the various Agencies within HHS determine and carry out their missions within their goals and the budgets which they have available.

Sincerely yours,

R. Rodney Howell, M.D.