Simple Newborn Screening Could Catch Potentially Fatal Heart Defects


Breckyn Reynolds, now 5, has already been through four open heart surgeries and 11 heart catherizations for a congenital heart defect. She may not have suffered as many complications had the defect been detected right after birth through a pulse oxygen screening. (Photo submitted)

Breckyn Reynolds, now 5, has already been through four open heart surgeries and 11 heart catherizations for a congenital heart defect. She may not have suffered as many complications had the defect been detected right after birth through a pulse oxygen screening. (Photo submitted)

TOPEKA, Kan. (WIBW) - Five-year-old Breckyn Reynolds of Concordia appeared to be a perfectly healthy baby when her parents brought her home from the hospital.

But mom, Kim, soon noticed Breckyn wasn't acting like her first two children. Her little fingers and toes started appearing blue and she was doing a lot of deep, labored breathing.

"I knew something was wrong," she said.

At five weeks, the Reynolds rushed Breckyn to the hospital. Her condition was so critical, she was airlifted to Children's Mercy Hospital in Kansas City. She was diagnosed with a congentital heart defect known as transposition of the great arteries. Since then, she's been through four open heart surgeries, 11 heart catherizations and numerous other procedures.

Growing research in recent years shows a simple screening known as pulse oxygen, done just after birth, may have changed Breckyn's story.

Dr. Heather Morgan, a neonatalogist at Stormont-Vail HealthCare and Pediatrix Medical Group, says a pulse oxygen screening uses equipment most facilities already have. To do it, a small probe is placed on baby's skin to measure the blood oxygen level in the right arm and left leg. A difference of more than three percent can signal a problem with a narrowing of the aorta, which is the big blood vessel that comes off the heart and feeds oxygen to the rest of the body.

Babies initially can compensate, Morgan says, because they're born with an extra blood vessel which closes anywhere from several hours to several days after birth. If the pulse oxygen screening detects an issue, doctors follow up with an ultrasound of the heart. If that shows a congenital heart defect, baby can get medication to keep the vessel open until surgery can correct it.

If the screening isn't done and the vessel has not closed before baby is released from the hospital to make a problem visually apparant, Morgan says the result can be tragic.

"Babies can die and they can die very quickly," Morgan said. "Once that PDA closes, then they may not get enough blood to their lower extremities or to their bran or to their kidneys. They can be very sick and there can be significant damage."

Morgan says Stormont-Vail has made pulse oxygen screening standard practice for all babies, in the wake of it being added to the U.S. Health and Human Services list of recommended screenings some 18 months ago.

But not all facilities have followed suit.

In a 2012 survey, the Kansas Department of Health and Environment found 78 percent of babies in Kansas were being screened at birth, which represented only 30 percent of facilities.

KDHE is now teaming up with the Kansas Hospital Association, American Heart Association and March of Dimes to educate on the importance of the screening and determine the obstacles facing those who aren't doing it.

Morgan says she believes it is of vital importance.

"This is saving babies lives," she said.

Kim agrees. She says she watches Breckyn tire more easily than her peers, sitting on the sidelines while they continue an activity and often struggling to catch her breath. While she can't change how heart disease is limiting her daughter's life, she says she can urge others to take her family's story to heart, so they don't have to repeat it.

33 states have legislation requiring pulse ox screening of newborns. Kansas is not among them.

KDHE Secretary Dr. Robert Moser says the awareness campaign will allow the state to assess how to meet any challenges facing smaller facilities before deciding whether to take the next step in making the screening law.

February 7 thru 14 is "Congenital Heart Defect Awareness Week."

News release from KDHE on Congenital Heart Defect Awareness:
TOPEKA – Every year, 40,000 babies are born in the United States with a congenital heart defect, and some defects are not diagnosed until months or years after birth. Approximately 7,200 of these are diagnosed with Critical Congenital Heart Defect (CCHD) which substantially increases the risk of infant death if not diagnosed shortly after birth. Robert Moser, M.D., Kansas Secretary of Health & Environment and State Health Officer, says while the majority of Kansas infants are screened for CCHD using pulse oximetry, his staff in KDHE’s Bureau of Family Health, jointly with the Kansas Hospital Association, American Heart Association, and March of Dimes and other partners, are ramping up outreach to bring awareness to CCHD screening.

Earlier this week, Kansas Governor Sam Brownback signed a proclamation recognizing Congenital Heart Defect Awareness Week, which begins today, Feb. 7.

“Critical congenital heart defects can be detected in infants using pulse oximetry testing. I’ve seen first-hand the many ways our medical community is committed to providing exemplary care for infants and families, so I’m confident that our upcoming baseline study on newborn screening will demonstrate a wide-ranging use of pulse oximetry tests in the neonatal environment,” said Dr. Moser, a family physician for more than two decades. “Because a pulse oximetry test is not a blood test, we currently recommend that it not be incorporated in the statutorily required screenings conducted through KDHE’s Newborn Screening Program, which screens for a core panel of 28 conditions using blood specimens submitted by medical providers across the state.”

KDHE data show that birth defects were the leading cause of infant mortality in Kansas in 2011 and were the second leading cause in 2012. Along with its partners on the Kansas Blue Ribbon Panel on Infant Mortality, KDHE continues to study the causes of infant mortality, which is an important indicator of the health of a community.

“The evidence is clear that pulse oximetry testing saves lives. This non-intrusive, low-cost method supports early diagnosis so treatment can begin and health risks are reduced,” said Dennis Cooley, M.D., a Topeka pediatrician and chair of the Kansas Blue Ribbon Panel on Infant Mortality.


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