Tag Archives: pulse ox screening
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.
Chairperson

http://www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm

“These are not isolated incidents”

“These are not isolated incidents”

This gorgeous little girl is Taryn Kennedy.  She was happy, healthy, growing until almost one month old.  Her parents didn’t see it coming, and she was lost to an undiagnosed heart defect – TAPVR – at 29 days old.  I stood next to her mom, Vi Kennedy (blessherheart.org), just two weeks ago at the national advisory committee meeting evaluating newborn screening for Critical Congenital Heart Defects.  She is eloquent and brave…and she is not alone.

I sent this via email to the members of our Minnesota pulse ox pilot team about 6 weeks ago.  Thought it was worth posting here.  I am amazed by the continuity and consistency of the data that comes in regarding newborn screening for CCHD.  I get that we have a bias…but the facts are simply becoming far to difficult to argue with.  As Dr. Martin put it to the national committee “these are not isolated incidents, babies are missed all the time…”   Feel free to add your comments or feedback – the armor gets stronger every day.  Here’s the email:

Wanted to share this with you.  They are the top 8 defects – in order of prevalence – that are the most often missed during routine newborn exam alone (these come from Dr. Hoffman’s recent paper and gathered study data).  Below that are some of the responses heart families posted on what their undiagnosed defects were…on our Facebook page alone, we got over 2 dozen responses in a matter of a few hours.  I may post again to see what additional feedback comes in.  Would be interested to hear if anything hear strikes you as unusual (other than an HLHS baby going undiagnosed for 2 months!)   Annamarie

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

RESPONSES:

1. Marlee had an Interupted Aortic Arch and a VSD and wasn’t diagnosed until she was 2 days old and her PDA was closing!

2. My son had d-TGA with a VSD. Dx at 5 days old!!!

3. The defects listed are critical when the children’s lives depend on the ductus staying open. This is why I would like to follow the pulse ox push before discharge with a pulse ox at the pediatrician’s office on day three. There will be many, many more caught if we can do both (posted by a former NICU nurse in Tennessee)

4. They didn’t catch Lauren’s HLHS in utero. We didn’t know something was wrong until about 19 hours after she was born when she stopped nursing. The surgeon told us later they may have missed it because her left ventricle is 60% the size it should be, which is large for HLHS. At one point, they even considered trying to let her use the left ventricle, but they decided against it.

5. They didn’t catch Brayden’s TOF in utero. Diagnosed at 3 days old.

6. None of Caylen’s defects including heterotaxy, dextrocardia, TGA, av discordance (just some of the major defects) were seen in utero. It took them three days just to figure out all her defects and diagnose her.  I love the pulse ox campaign, though, to catch all the ones who don’t show up as dramatically as hers did after she was born. I push it to everyone. My brother is a respiratory therapist in a NICU and he’s pushing the idea, too.

7. My daughter’s TOF was diagnosed at three days old…we knew something wasn’t right because her murmur was SO loud but, nothing was ever picked up in utero.

8. My son was born with a vsd, pds, asd, and an extra mass in his heart.. and he was born with heterotaxy and polysplenia syndrome and we didn’t find out until he was 2 months old because he was breathing fast. I took him to the emergency room and that’s how we found out…we were in total shock.

9. My daughter’s TOF was caught by a nurse who heard the very loud murmur AFTER the doc wrote our discharge orders for home. We were literally 10 minutes away from going home. An OB/GYN did our US at 18 weeks and couldn’t get the blood flow. I will always wonder if someone else would have detected the TOF. I’m all for the pulse ox and blood pressure check on upper and lower extremities.

10. I had 5 sonograms – and none caught Dom’s CHD (coarctation of the aorta, biccupsid aortic valve, mitral valve stenosis). The only reason why it was caught before we went home because we were in NICU because they thought he had an infection and he was getting antibiotics. They heard the mumur when he was 4 days old and did the echo just as procedure. I was told that if it wasn’t caught then, I would have been back in the hospital before 2 weeks was up with Dom in heart failure. So I am thankful that we happened to be in the right place at the right time.

11. Maddy’s TAPVR went undetected for two weeks after birth.

12. My son had critical aortic stenosis that was not caught until a few hours after he was born. He turned blue shortly after he was born. He ended up having a heart transplant when he was 6 weeks old. He will be 7 yrs next week! I love the idea of the Pulse Ox for all new borns!

13. Alex’s HLHS wasn’t diagnosed until he was 2 months old. It’s a miracle he’s still with us. An unusually large left ventrical was the difference.  Hopefully we can work together to make sure more heart defects are detected earlier so others won’t have to worry like we did.