Updated February 2023

Author: Division of Maternal and Child Health, Vermont Department of Health

The lives of more than 12,000 babies each year in the United States are saved or improved through newborn screening. The Centers for Disease Control and Prevention have called newborn screening “one of the greatest public health achievements of the 20^th century – and a public health success story that is expanding in the 21^st century.”[1]

Since 1963, all babies born in Vermont have had the opportunity to receive a newborn screening test to check for rare but serious diseases which may not be apparent at birth. Some people call this the “PKU test,” because phenylketonuria (PKU) was the first condition to be screened, well over 50 years ago. Screening is done by taking a few drops of blood from a baby’s heel and sending them to a special laboratory to test for a variety of disorders. In addition to this “dried bloodspot” testing, other types of screening are also done at the bedside to check for hearing and heart problems.

[1] Association of Public Health Laboratories. The Newborn Screening Story. 2013

Vermont currently tests dried bloodspots for 29 different conditions which could result in serious health problems, developmental delays, or in rare instances, death if not identified and treated early. Timeliness is critical, both in obtaining the screening specimen and in transporting it to the laboratory in Massachusetts for analysis. In addition to these 29 conditions, hearing and Critical Congenital Heart Disease screening are done in the home or hospital where the baby is born.

• Newborns and their families
• Vermont Department of Health: Newborn Screening Program; Information and Technology; Health Surveillance; Children with Special Health Needs
• Vermont hospital nursing and laboratory staff
• New England Newborn Screening Program Laboratory
• Primary Care Providers
• Certified Public Midwives
• Specialty pediatric care providers: Cardiologists; Endocrinologists; Geneticists; Hematologists; Immunologists; Infectious Disease Specialists; Metabolicians; Neonatologists; Pulmonologists

The Vermont Department of Health Newborn Screening Program has established a highly successful system of quality assurance and monitoring. Since 2002, 100% of all babies born in the state have had the opportunity to be screened. Only those who died in the neonatal period or those whose parents made the decision to decline screening were not screened – less than one percent of all births.

Ideally, the dried bloodspot specimen should be obtained as soon as possible after the baby is 24 hours old. The specimen should be sent within the next 24 hours to the New England Newborn Screening Program Laboratory in Massachusetts, using an overnight courier system. Because the laboratory is not open on Sunday or on some holidays, this is not always possible. Specimens which are obtained in the home or in primary care provider offices are usually sent via U.S. mail, which can take several days. Timeliness of collection and transport are challenges which require continual assessment and improvement.

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was established under the Public Health Service Act, Title XI, § 1109 (42 U.S.C. 300b-10), as amended by the Newborn Screening Saves Lives Reauthorization Act of 2014 (P.L. 113-240). Its mission is to reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders.

The Vermont Newborn Screening Program Advisory Committee comprises parents and professionals who make recommendations to the Commissioner of Health regarding the conditions for which we screen in Vermont – the Vermont Panel. Based upon the Recommended Uniform Screening Panel created by the ACHDNC, the Committee examines the multifaceted approach to adding additional conditions to the Vermont Panel:

• Is there evidence that supports the potential net benefit of screening?
• Is reliable testing available to screen for the disorder?
• Are there effective treatments available?
• Are there adequate numbers of trained staff to implement all aspects of this new screening condition?
• How much will all aspects the new screening cost, and how will it be paid for?

• In addition to clinical follow-up of out of range laboratories, include teaching/training of hospital staff, PCP office staff, laboratory staff, Pediatric and Family Practice Residents, nursing students, laboratorians.
• Explore methods of decreasing the amount of time between specimen collection and receipt in the laboratory
• Quality assurance, monitoring, surveillance
• Possible addition of new condition as recommended by the ACHDNC