Matters of the Heart: DPH Promotes Expanded Newborn Screening Program for Congenital Heart Defects Week

February 9, 2015

When expecting a child, most parents have one simple wish – to deliver a beautiful, healthy newborn baby.

For some parents, the excitement of bringing a new baby in the world is sometimes met with the hard news of a serious health condition hours or even days after their birth.

The first few days of a child’s life are by far some of the most fragile, and are also a crucial time for parents and health providers to identify conditions that impact the long-term wellbeing of a newborn. Parents in Georgia are navigating this important moment with the support of the Georgia Department of Public Health’s (DPH) Newborn Screening Program, a preventive health care system designed to identify and provide early treatment for inherited and congenital disorders that otherwise would cause significant morbidity or death.

Congenital heart defects (CHD) – the most common type of birth defect – impacts nearly 40,000 births each year in the United States, according to the Centers for Disease Control and Prevention (CDC). About 1 in 4 babies born with a CHD has a critical congenital heart defect (CCHD) which requires intervention during infancy.

As the nation recognizes Congenital Heart Defects Week, observed Feb. 7 – 14, DPH is working to raise awareness about this condition and encourage parents and health providers to utilize appropriate newborn screening methods to identify the condition as early as possible.

The exact causes of CHD are still unknown; however, they have been connected to various genetic and environmental factors. Changes in a baby’s genes or chromosomes have been cited as a cause for CHD, but other health conditions present in the mother have also been found to impact a baby’s heart health such as diabetes, obesity or medication use during pregnancy.

“Congenital heart defects affect the structure of a baby’s heart and how it works,” said Pamela Clark, program consultant for DPH's Newborn Screening Program. “These defects can be identified before birth, at birth or even after a baby goes home. With a wide range of opportunity to miss the diagnosis, it’s important that health care providers utilize early screening methods such as pulse oximetry, a simple test that measures the amount of oxygen in the baby’s blood, to identify babies at risk before going home.”

Since 1968, DPH’s newborn screening program has been consistently growing to provide more comprehensive and thorough screening services. It began with one test for phenylketonuria (PKU) and has since evolved to provide screening for more than 28 health conditions present in infants at birth.

Most recently in May 2014, DPH further expanded the program to include screening for CCHD – an exciting milestone in the program’s history that will help to save the lives of even more Georgia babies. Although all hospitals are required to begin CCHD screening using pulse oximetry by July 1, 2015, more than 85 percent of Georgia’s birthing hospitals are already screening today.

“It is a great accomplishment to have CCHD included as a component of our Newborn Screening Program,” said Seema Csukas, M.D., PhD, director of the Maternal and Child Health (MCH) section at DPH. “CDC studies indicate that the population of children and adults living with CHD is growing, which is largely attributed to the effectiveness of modern screening, treatment and care methods. The addition of CCHD screening to our existing newborn screening panel is an excellent step forward to ensuring we help families and babies overcome life threatening conditions and enjoy a better quality of life.”

DPH’s Newborn Screening Program goes well beyond screening to help parents and families more effectively connect with vital points of care and follow-up treatment for babies when conditions are identified. The screening process is structured in a six-part series that guide infants through the health care continuum: education, screening, follow-up, medical diagnosis, management and evaluation.

“Time is of the essence when dealing with CCHD or any other infant health condition,” said Johanna Pringle, interim director for Child Health Screening, MCH section at DPH. “Whether it’s the screening process that takes place at DPH’s state lab or consultations with a tertiary treatment center, our goal is to close the gap between the diagnosis and treatment as quickly as possible. With the continued support of our partners and hospitals, we have been able to successfully attain this goal for all of Georgia’s babies and intend to continue that effort in the future.”

For more information about DPH’s newborn screening program, please visit dph.georgia.gov/newborn-screening-nbs

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