Thirty percent of infant deaths in the U.S. are because of congenital heart defects. There’s a test for newborns, which can help detect deadly heart problems, but it’s not being done in all hospitals.

Tania Rocchio says she holds her newborn John Carlo tight after she found out he passed his test. Dr. Robert Koppel performed a pulse-oximetry test, which screens for deadly heart problems in newborns.

A light source and sensor measures the blood oxygen levels. A healthy saturation is 96 percent or greater. Dr.  Koppel says John Carlo should have a healthy heart.

“We can’t be absolutely certain that the baby doesn’t have an underlying potentially lethal problem, but now we know it is far less likely than we did a generation ago,” Robert Koppel, MD, Medical Director, Regional Perinatal Center, Cohen Children's Medical Center of New York, and Associate Professor of Pediatrics at Hofstra North Shore - LIJ School of Medicine, told Ivanhoe.

Now, John Carlo’s mom, who says she has heart problems in her family, has more peace of mind. It’s only mandatory in some states.

There is some fear it can also lead to false positive results that are costly and stressful for the family, but a study out of Britain showed a false positive rate of one in 3,000 cases.

Dr. Koppel believes early detection outweighs any negatives.

“Treatment is so effective at saving lives,” Dr. Koppel said.

Studies show one in six babies who die from critical congenital heart disease are underdiagnosed and unrecognized cases.  An estimated 1,200 babies a year could be diagnosed sooner and infant deaths could be prevented if the pulse oximetry was routinely used.

For hospitals that do have the pulse oximetry machine, the only additional cost is for use of the probe, which is about one dollar per reusable probe or seven to eight dollars for a single-use probe.

BACKGROUND: The most common type of birth defect is congenital heart defect. This complication begins at birth and may continue through childhood. This affects the heart valves, arteries and veins surrounding the heart and disturbs the blood flow through the heart. Tests are done when babies are born to check for this defect, but it is not required in all states. This fatal disease does not cause many symptoms and it is hard to catch at a young age. (Source: http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html)

SIGNS: Sometimes doctors can detect heart disease while the mother is pregnant. In other cases, newborns are diagnosed with a heart disease at birth. Pain is not usually a symptom, but poor blood circulation, fatigue, rapid breathing, and a bluish tint to the fingernails, lips, and skin are common signs that a newborn has congenital heart disease. A heart murmur may also be detected if newborns are diagnosed with a heart disease, which is an abnormal blood flow through the heart. (Source: http://www.medicinenet.com/congenital_heart_disease/page3.htm#what_are_the_signs_and_symptoms_and_signs_of_congenital_heart_defects

TREATMENT: Depending on the severity of the disease, a child may or may not need to be treated. If treatment is needed, then a catheter or surgery can repair the irregularity. If the disease cannot be treated with the use of a catheter, then doctors perform open-heart surgery to fix the defect.   

NEW TECHNOLOGY: A pulse oximetry screening is now being performed on newborns across the U.S. with the exception of a few states. Newborns are tested for heart defects in hospitals just moments after birth to detect any potential or current heart complications. Before performing the screening, doctors place a probe on the infant’s foot then they begin the screening. The blood oxygen level is measured by light source and sensors which determine how healthy the heart is. The test screens for the seven most vital heart diseases to save the lives of newborns and prevent further complications. This procedure provides comfort and relief to parents as they feel that their child is in good health. (Source: http://www.cdc.gov/ncbddd/pediatricgenetics/pulse.html)

Robert Koppel, MD, Medical Director, Regional Perinatal Center, Cohen Children's Medical Center of New York, and  Associate Professor of Pediatrics, Hofstra North Shore - LIJ School of Medicine, talks about a test that could save newborn’s hearts.

What is pulse oximetry?

Dr. Koppel: Pulse oximetry is a technology that’s been around for quite a long time, it was developed in the 1970s. It’s a noninvasive way of measuring the oxygen saturation of a patient’s blood. And it relies on transmitting a specific wave length of red light through an extremity, such as a hand or foot or a fingertip. The device is able to interpret the amount of light that passes through the extremity and convert that in to a percentage of red blood cells that are carrying oxygen. It displays a number that’s called oxygen saturation.

Why is it needed?

Dr. Koppel:  Well it’s very useful for all patients in terms of a vital sign that gives us an assessment of the oxygen status of the patient. And what we’ve known for some time now is that it can also be useful as a screening test to detect subtle degrees of decreased oxygen in babies who may have critical congenital heart disease. These are babies that may look pink to us when we just look at them using our eyes but in fact our eyes can deceive us. Although the babies look pink to us their oxygen levels may be slightly low and that might be an indication that they have a critical congenital heart defect.

How easy is the procedure?

Dr. Koppel: It’s very simple. It’s a procedure that’s done on patients in the hospital very routinely, and is completely painless, and noninvasive. It simply involves placing a probe that has a red light on one side and a sensor on the other, and a cable that attaches to a device.  And it gives us a display that tells us the patient’s heart rate with the oxygen saturation, and it all can be done in less than a minute.

How long have you been doing this here?

Dr. Koppel: We were very early adopters of pulse oximetry screening. The initial reports came out in the spring of 1995 and by 1998 we undertook a clinical trial here at Long Island Jewish Medical Center. So we’ve been doing this for fifteen years. We’ve published our data and it’s been incorporated into the collection of world literature that has now reached a point where governments, ministries of health, and departments of health have been able to endorse the use of pulse oximetry as a screen for critical congenital heart disease. It’s really very quick; it takes only about a minute to get a reading, but we measure in two locations. We measure in the right hand as well as one of the feet. So the estimate is that the screen itself takes about five minutes from start to finish. It is completely painless; it’s nothing more than wrapping something that looks like a band aide around the hand or the foot.

Are all of them the same? I thought one only used the foot.

Dr. Koppel:  The nature of the test is that it can be done in one extremity, in which case it should be the foot but the current national recommendation is to do the right hand as well. The feeling is that by doing the right hand together with one of the feet you can increase your detection of one of the more common of the critical heart defects called coarctation of the aorta. The problem is that you might increase your risk of having a false positive result by doing two measurements. But on balance, the feeling is that if you can increase the sensitivity of the test to find the most common defect then it’s worth the risk of having a few more false positives cases.