Case Definitions

Case Definitions for Newborn Screening

In order to facilitate common classifications for diagnoses across programs for all of the core newborn screening conditions, a set of case definitions have been developed by the newborns screening community. These definitions have been developed through an iterative process through experts in state newborn screening, piloted in newborn screening programs, and integrated into NewSTEPs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short and long-term follow-up of identified newborns at the local, regional, and national levels.

Classification Tables

Case definitions for newborn screening public health surveillance were developed by disorder experts and program experts based on certainty of diagnosis.   These definitions are intended to classify cases for public health surveillance and counting, not to suggest clinical diagnosis criteria.  The classification tables can be found linked here.

Case Definition Toolkit

The case definitions toolkit is a collection of resources that provide newborn screening programs with:

Case Definition Worksheets

Case Definition worksheets stratified by disorder can be found by following the links below, with basic information worksheet requesting demographic data linked here. The same worksheets listed below can be found in one aggregate document linked here.

METABOLIC DISORDERS

ENDOCRINE DISORDERS

HEMOGLOBINOPATHIES

OTHER DISORDERS

Case Import Files

  1. Download the following case import templates:
  2. Save the case import template csv files to your desktop
  3. Insert the case data into the appropriate fields in the templates. See Supporting Documents link below
  4. Select the "Choose File" button under the case import templates to locate the corresponding file on your hard drive
  5. Select the "Submit" button
  6. Download the following support documents to aid in generating the appropriate data for the templates