UPR Medical Sciences adds new testing to infants’ screening

Dr. Sulay Rivera Sánchez, associate director of the Newborn Screening and Hereditary Diseases Program at the University of Puerto Rico’s Medical Sciences Campus (LinkedIn)

By THE STAR STAFF

The University of Puerto Rico’s Medical Sciences Campus (RCM-UPR by its initials in Spanish) announced that its Newborn Screening and Hereditary Diseases Program has added testing for X‑linked adrenoleukodystrophy (X-ALD) to the panel of conditions screened in all infants born in Puerto Rico.

For nearly four decades, the program -- part of the RCM-UPR School of Medicine’s Department of Pediatrics -- has screened more than one million newborns. The test consists of a heel‑stick blood sample taken at hospitals across the island to identify about 52 genetic disorders. Early detection can prevent severe health consequences, including intellectual disability and death.

Created under Law 84 of 1987, the screening program is a mandatory public health service provided to every baby born in Puerto Rico.

“Adrenoleukodystrophy (ALD) is a rare, progressive genetic disorder that causes the accumulation of very long‑chain fatty acids in the brain and adrenal glands,” said Dr. Sulay Rivera Sánchez, associate director of the program. “Because it is linked to the X chromosome, it primarily affects males. Symptoms of the childhood cerebral form usually appear around age four. What may begin as minor behavioral issues gradually progresses to blindness, deafness, seizures and loss of motor control. Our team works tirelessly to continue adding conditions that can be detected early, reducing morbidity and mortality among children with serious hereditary diseases.”

The program began formally reporting X‑ALD results in October 2025. Early detection allows for timely intervention that can significantly improve quality of life. With the addition, Puerto Rico joins other U.S. jurisdictions that follow national recommendations for newborn screening standards.

X‑ALD is estimated to occur in approximately one in every 15,000 births. The primary treatment is a bone marrow transplant performed before neurological symptoms begin.

Hospitals and health-care providers are responsible for educating families about newborn screening, collecting accurate samples, and ensuring that infants with abnormal results receive appropriate follow‑up, confirmatory testing and treatment.

RCM-UPR Chancellor Dr. Myrna L. Quiñones Feliciano emphasized the program’s importance.

“As a pediatrician, neonatal screening is essential for the Medical Sciences Campus and for Puerto Rico,” she said.

She credited the late Dr. Pedro Santiago Borrero -- pediatric hematologist, professor, and founder of the program more than 38 years ago -- for making neonatal screening mandatory on the island.

“The program has evolved over the years, and the laboratory is accredited by the Department of Health and the Clinical Laboratory Improvement Amendments (CLIA),” Quiñones Feliciano said. “We will continue working diligently to protect the health of our people, especially our infants.”

The program currently screens for conditions including sickle cell disease and other hemoglobinopathies, primary hypothyroidism, galactosemia and other secondary conditions.

Over the past five years, Puerto Rico’s Newborn Screening Program has identified and helped diagnose 123 infants with hereditary diseases detected through routine screening.