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Celebrating 60 Years of Newborn Screening to Prevent Serious Disorders and Save Lives

Celebrating 60 Years of Newborn Screening to Prevent Serious Disorders and Save Lives

Sixty years ago, when Tri-City Medical Center had just opened its doors, Dr. Robert Guthrie, a microbiologist and pediatrician in Buffalo, NY, developed the “Guthrie test” – a simple and inexpensive blood spot test to screen for phenylketonuria (PKU) in newborns, a debilitating rare disease if left untreated. The test is still used today to screen nearly four million babies born each year in the US for approximately 35 treatable conditions listed on the Recommended Uniform Screening Panel (RUSP). Many of these conditions are not apparent at birth.

Within the first two days of life, a few drops of the baby’s blood from a “heel stick” are put onto a filter paper card and sent to a lab for analysis. Results are returned to the baby’s pediatrician or birth hospital and, if positive, they are shared with the parents. After reconfirming an official diagnosis, the baby’s pediatrician will refer the family to a specialist to begin treatment immediately. In California, de-identified bloodspot cards are stored and may be used for public health research to improve the screening program or create screenings for new disorders. Parents can request that their child’s card be destroyed.

Over the course of six decades, thousands of babies have been delivered at Tri-City – some of whom have returned as adults to deliver the next generations of babies – and almost all have been screened, as it is required by the California Department of Public Health (CDPH) with parental consent.

“We had about 1,500 deliveries just last year,” said Shirley Krussel, RN, MSN, RNC-NIC, a clinical educator in the Neonatal Intensive Care Unit (NICU) at Tri-City. “During their prenatal care, parents are given information from CDPH to educate them about the screening process and its importance. Currently, the state of California screens for about 80 different genetic and congenital disorders, which is more than most states.”

“Through a safe blood test, babies that are diagnosed with metabolic disorders such as PKU, Sickle Cell Anemia and Cystic Fibrosis can be treated before symptoms occur and lead healthier, longer lives,” added Krussel. “For other neurological disorders, early detection may help to avoid long-term developmental delays and brain damage.”

In addition to the heel stick, newborn screening also entails a hearing test and pulse oximetry test to check for oxygen levels in the blood. In 2010, the Peltier family, whose son Caleb was born at Tri-City with an undetected congenital heart disease, alongside Tri-City staff, the March of Dimes and the American Heart Association, helped to champion the passage of legislation (AB 1731) that required all California hospitals to screen newborns for congenital heart disease through a pulse oximetry test. By 2018, all 50 states had policies in place for pulse ox testing based on recommendations from the American Academy of Pediatrics.

“Throughout my career, I’ve seen the positive impact that newborn screening can have for families,” said Krussel. “I remember one baby who was diagnosed as profoundly deaf. Knowing this, the family immediately started learning American Sign Language (ASL) and communicating with the infant in this way. Without the screening, it might have been six to 12 months before the parents and doctors realized that the baby couldn’t hear, which might have negatively impacted development.”

“Even after 30 years of watching the birth of babies, I still think it’s a miracle,” added Krussel. “At Tri-City, all of us who work in obstetrics are passionate about ensuring that the babies in our care are healthy. And that includes their moms and dads too. From the moment these babies are born, our goal is to send them home healthy to a wonderful family.”

In September, National Newborn Screening Awareness month is celebrated; this year marks the 60th anniversary of one of the most successful public health programs in the US.

To learn more about What to Expect when delivering your baby at Tri-City Medical Center, call 760-940-3151 or complete an online Childbirth Registration Form. Call  855-222-8262 to be referred to an OB/GYN physician.

To learn more about newborn screening, visit Baby’s First Test or the California Department of Public Health.