School of Medicine and Health Sciences Poster Presentations

Title

Newborn Screening in the DMV Area

Document Type

Poster

Abstract Category

Prevention and Community Health

Keywords

newborn screening, genetics, pediatrics, public health

Publication Date

Spring 5-1-2019

Abstract

The vast majority of children in the United States undergo newborn screening shortly after birth, making it a remarkably successful public health initiative. Though a Recommended Uniform Screening Panel (RUSP) has been developed and continues to be updated, comprised of both a core conditions panel and a secondary targets panel, its implementation is not required. Each jurisdiction ultimately decides which conditions to include on its newborn screen (NBS), leading to considerable variation across the country. Here, we assessed the panels in Maryland, the District of Columbia (DC) and Virginia. We considered the differences between the three and compared each panel to the RUSP. Importantly, we also investigated why these differences exist. We found that though all three included a significant proportion of the core conditions panel on their NBS, none included the entire panel. When the secondary targets were considered, we found that both Maryland and DC again included many of the conditions, though not all. Virginia did not include any secondary target conditions. Maryland and DC also included conditions that were absent from both the core conditions and secondary targets panels to their NBS. We identified technical constraints and testing optimization as the main factors contributing to the size of Virginia's NBS as well as to the group of conditions it includes. Continued research is needed to identify the contributing factors in both Maryland and DC. Additionally, the reasons for including conditions not currently on the RUSP in both these jurisdictions remain to be determined.

Open Access

1

Comments

Presented at Research Days 2019.

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Newborn Screening in the DMV Area

The vast majority of children in the United States undergo newborn screening shortly after birth, making it a remarkably successful public health initiative. Though a Recommended Uniform Screening Panel (RUSP) has been developed and continues to be updated, comprised of both a core conditions panel and a secondary targets panel, its implementation is not required. Each jurisdiction ultimately decides which conditions to include on its newborn screen (NBS), leading to considerable variation across the country. Here, we assessed the panels in Maryland, the District of Columbia (DC) and Virginia. We considered the differences between the three and compared each panel to the RUSP. Importantly, we also investigated why these differences exist. We found that though all three included a significant proportion of the core conditions panel on their NBS, none included the entire panel. When the secondary targets were considered, we found that both Maryland and DC again included many of the conditions, though not all. Virginia did not include any secondary target conditions. Maryland and DC also included conditions that were absent from both the core conditions and secondary targets panels to their NBS. We identified technical constraints and testing optimization as the main factors contributing to the size of Virginia's NBS as well as to the group of conditions it includes. Continued research is needed to identify the contributing factors in both Maryland and DC. Additionally, the reasons for including conditions not currently on the RUSP in both these jurisdictions remain to be determined.