Assessing data completeness in a four-state newborn screening long-term follow-up pilot project Open Access

Rutledge, Rebecca (2014)

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CDC's National Center on Birth Defects and Developmental Disabilities funded a pilot project to develop and implement population-based surveillance of confirmed newborn screening conditions using existing data collection systems in 4 U.S. states. Long-term follow-up outcomes were collected on each child through their third birthday. The purpose of this thesis is to examine the data completeness of the long-term follow-up data collected through the pilot project. Over three years of follow-up, 261 metabolic cases were identified in 1,343,696 live births. The primary outcome of this analysis is the percentage of completeness for each variable (number of observations with data for that variable/total number of observations). The denominator decreases from year 1 to year 3 to exclude those that died or moved out of the catchment area during the previous year. Data completeness was compared across the three types of data collection systems used in four states: 2 active birth defects surveillance systems, 1 passive system with case confirmation, and 1 newborn screening system. A fairly consistent level of completeness was observed across the five types of variables (demographic, diagnosis, service utilization, development, co-morbidities). Of the variables that focused on long-term follow-up outcomes for these children, the service utilization and co-morbidity variables were of the highest quality. The developmental variables showed the most variation in data completeness. The two active systems and the passive with case confirmation system contributed the data with the highest completeness. The NBS system contributed the most number of cases to the cohort and was still able to contribute high quality data.

Table of Contents

Background/Literature Review 1 History of Newborn Screening in the US 1 Components of a Newborn Screening Program 3 Medical Home 4 Importance of Tandem Mass Spectrometry 5 Short-Term and Long-Term Follow-up 5 Long-Term Follow-up - 2006 6 Regional Collaboratives 7 Long-Term Follow-up - 2008 8 Long-Term Follow-up - 2010 9 California's Experience with Follow-up 9 New England's Experience with LTFU 10 Other Efforts in LTFU 11 CDC's Pilot Project 12 References 14 Manuscript 18 Title 18 Authors 18 Affiliations 18 Abstract 18 Introduction 19 Methods 22 Results 25 Discussion 28 References 32 Tables 35 Figures 37 Appendix 1 42 Appendix 2 46

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