Preview: Washington DC Advisory Committee – Newborns and Children
20. Jan, 2010 
10 Comments
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
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*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
I am so freaking proud of you. You are amazing. Absolutely amazing.
Thanks for writing a great article!!
this is great!!!!!
SOOO well writen. Captivating! Awesome!
I’m very proud of you.
You are a rock star advocate, Annamarie. The CHD cause is lucky to have you.
Love,
Eve’s proud Godmother
As a mom of 2 daughters who each had Hypoplastic Left Heart sydrome, I strongly agree with everything you have presented. It is far too common to not include in regular postnatal testing and even prenatal. My first daughter was born an angel, diagnosed prenatally, and my 2nd received a heart transplant in April. She is 2 and a half and thriving!
http://www.sofineedsaheart.com
Way to go!
Just curious about the *, when it says that the missed cases will be “only vsd’s”, is that saying that routine exams with stethescope fail to detect vsd’s or the pulse ox fails to detect vsd’s? I’ve been curious to know the data on if pulse ox detects vsd’s since they’re so prevalent.
Awesome. Thank you. My son has TGA,VSD,ASD..and was almost sent home. Luckily a nurse thought he looked “a little dusky” and did a pulse ox. We live in a rural area, the closest hospital is over 30 minutes away, we shudder at the thought of what could have been.
What an awesome way to show your advocacy! I’m am just getting into being an advocate for CHD as my “heart” baby is only 4 months old! What a great article!