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A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
| Content Provider | MDPI |
|---|---|
| Author | Henrik, Åhlman Rolf, Zetterström Lars, Mørkrid Rowe, Alexander Stoway, Stephanie Arora, Vaneet Caggana, Michele Fornari, Anna Hagar, Arthur Hall, Patricia Marquardt, Gregg Miller, Bobby Nixon, Christopher Norgan, Andrew Orsini, Joseph Pettersen, Rolf Piazza, Amy Schubauer, Neil Smith, Amy Tang, Hao Tavakoli, Norma Wei, Sainan Currier, Robert Rinaldo, Piero |
| Copyright Year | 2021 |
| Description | Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing; one or two specimen collection times), and specificity (with or without collection of a second specimen) is overall poor. The purpose of this retrospective study is to investigate the potential impact of multivariate pattern recognition software (CLIR) to improve the post-analytical interpretation of screening results. Seven programs contributed reference data (N = 1,970,536) and two sets of true (TP, N = 1369 combined) and false (FP, N = 15,201) positive cases for validation and verification purposes, respectively. Data were adjusted for age at collection, birth weight, and location using polynomial regression models of the fifth degree to create three-dimensional regression surfaces. Customized Single Condition Tools and Dual Scatter Plots were created using CLIR to optimize the differential diagnosis between TP and FP cases in the validation set. Verification testing correctly identified 446/454 (98%) of the TP cases, and could have prevented 1931/5447 (35%) of the FP cases, with variable impact among locations (range 4% to 50%). CLIR tools either as made here or preferably standardized to the recommended uniform screening panel could improve performance of newborn screening for congenital hypothyroidism. |
| Starting Page | 23 |
| e-ISSN | 2409515X |
| DOI | 10.3390/ijns7020023 |
| Journal | International Journal of Neonatal Screening |
| Issue Number | 2 |
| Volume Number | 7 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2021-04-23 |
| Access Restriction | Open |
| Subject Keyword | International Journal of Neonatal Screening Endocrinology and Metabolism Bioinformatics Collaborative Laboratory Integrated Reports (clir) Dual Scatter Plot Congenital Hypothyroidism Covariate-adjusted Reference Intervals False Positives Newborn Screening Single Condition Tool Thyroid-stimulating Hormone Thyroxine |
| Content Type | Text |
| Resource Type | Article |
