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Updated: Jul 6, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

ScreenPlus: A comprehensive, multi-disorder newborn screening program.

Nicole R Kelly¹, Joseph J Orsini², Aaron J Goldenberg³

¹Department of Pediatrics, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY 10467, USA.

Molecular Genetics and Metabolism Reports

|January 4, 2024

Summary

This summary is machine-generated.

ScreenPlus is a pilot newborn screening (NBS) program in NYC enrolling over 100,000 infants for 14 rare genetic disorders. This study evaluates screening accuracy, feasibility, and ethical considerations for NBS expansion.

Keywords:

ELSI Ethics Expanded conditions Newborn screening Pilot studies Research

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Published on: September 7, 2021

Area of Science:

Medical Genetics
Public Health
Bioethics

Background:

Novel therapies necessitate early detection of rare genetic disorders through newborn screening (NBS).
Pilot NBS studies are crucial for assessing screening feasibility, accuracy, disease incidence, and ethical, legal, and social implications (ELSI).

Purpose of the Study:

To evaluate a consented pilot NBS program, ScreenPlus, enrolling over 100,000 infants in New York City.
To assess an analyte-based, multi-tiered screening platform for enhanced accuracy in detecting 14 rare genetic disorders.
To gather parental and stakeholder opinions on ELSI topics related to NBS expansion.

Main Methods:

ScreenPlus utilizes a consented, multi-tiered screening platform for 14 disorders in over 100,000 infants.
Abnormal results trigger confirmatory testing, management, and longitudinal outcome data collection.
Parental consent is obtained actively and passively, with translated materials for diverse populations.
Online surveys capture parental opinions on NBS policy, blood spot retention, and disorder inclusion.

Main Results:

The ScreenPlus program is designed to enroll over 100,000 infants, providing data on screening feasibility and accuracy.
A multi-sponsored, stakeholder-based funding model supports the pilot program.
The study will yield critical data on NBS for a broad panel of disorders and inform ethically sensitive decision-making.

Conclusions:

ScreenPlus serves as a model for multi-sponsored pilot NBS programs.
The program will generate essential data for NBS expansion, considering both technical and ethical aspects.
Findings will guide policy development for rare genetic disorder screening in newborns.