The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands
Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH) and Maple Syrup Ur...
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MDPI AG
2024-10-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/10/4/70 |
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| author | Rosalie C. Martens Anita Boelen Michèle H. van der Kemp Annet M. Bosch Eveline M. Berghout Gert Weijman Nitash Zwaveling-Soonawala Rendelien K. Verschoof-Puite Robert de Jonge Sabine E. Hannema Judith E. Bosmans Annemieke C. Heijboer |
| author_facet | Rosalie C. Martens Anita Boelen Michèle H. van der Kemp Annet M. Bosch Eveline M. Berghout Gert Weijman Nitash Zwaveling-Soonawala Rendelien K. Verschoof-Puite Robert de Jonge Sabine E. Hannema Judith E. Bosmans Annemieke C. Heijboer |
| author_sort | Rosalie C. Martens |
| collection | DOAJ |
| description | Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH) and Maple Syrup Urine Disease (MSUD) in the Dutch NBS program. The current study estimates the financial consequences of these improved algorithms related to the reduction in inconclusive results and false-positives. For each improved algorithm, the care pathway of an inconclusive/false-positive result was analyzed. The costs associated with the improvements, based on the change in inconclusive results/false-positives, were assessed to estimate the cost reduction per year. The improvements resulted in a reduction of inconclusive results and/or false-positives, without increasing false-negatives. For CH, false positives decreased by 26 per year with a related cost reduction of EUR 31,156. For CAH, 95 second heel punctures and seven false-positives per year were avoided, leading to a related cost reduction of EUR 7340. For MSUD, five false-positives per year were avoided with a related cost reduction of EUR 11,336. The improved screening algorithms led to a cost reduction of EUR 49,832 annually. Together with the known negative psychosocial effects associated with an inconclusive or false-positive NBS result, these results highlight the importance of improving NBS algorithms. |
| format | Article |
| id | doaj-art-c57f0458aba94eb0af9b9a56164a674b |
| institution | OA Journals |
| issn | 2409-515X |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj-art-c57f0458aba94eb0af9b9a56164a674b2025-08-20T02:00:38ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2024-10-011047010.3390/ijns10040070The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The NetherlandsRosalie C. Martens0Anita Boelen1Michèle H. van der Kemp2Annet M. Bosch3Eveline M. Berghout4Gert Weijman5Nitash Zwaveling-Soonawala6Rendelien K. Verschoof-Puite7Robert de Jonge8Sabine E. Hannema9Judith E. Bosmans10Annemieke C. Heijboer11Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location University of Amsterdam, 1105 AZ Amsterdam, The NetherlandsEndocrine Laboratory, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location University of Amsterdam, 1105 AZ Amsterdam, The NetherlandsValue-Based Healthcare Strategy & Tactics, VDKMP, 1017 XP Amsterdam, The NetherlandsAmsterdam Gastroenterology, Endocrinology & Metabolism, 1105 AZ Amsterdam, The NetherlandsDepartment of Pediatrics, Deventer Ziekenhuis, 7417 SE Deventer, The NetherlandsDepartment for Vaccine Supply and Prevention Programs, RIVM Dutch National Institute for Public Health and the Environment, 3720 BA Bilthoven, The NetherlandsAmsterdam Gastroenterology, Endocrinology & Metabolism, 1105 AZ Amsterdam, The NetherlandsDepartment for Vaccine Supply and Prevention Programs, RIVM Dutch National Institute for Public Health and the Environment, 3720 BA Bilthoven, The NetherlandsAmsterdam Gastroenterology, Endocrinology & Metabolism, 1105 AZ Amsterdam, The NetherlandsAmsterdam Gastroenterology, Endocrinology & Metabolism, 1105 AZ Amsterdam, The NetherlandsDepartment of Health Sciences, Faculty of Science, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The NetherlandsEndocrine Laboratory, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location University of Amsterdam, 1105 AZ Amsterdam, The NetherlandsInconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH) and Maple Syrup Urine Disease (MSUD) in the Dutch NBS program. The current study estimates the financial consequences of these improved algorithms related to the reduction in inconclusive results and false-positives. For each improved algorithm, the care pathway of an inconclusive/false-positive result was analyzed. The costs associated with the improvements, based on the change in inconclusive results/false-positives, were assessed to estimate the cost reduction per year. The improvements resulted in a reduction of inconclusive results and/or false-positives, without increasing false-negatives. For CH, false positives decreased by 26 per year with a related cost reduction of EUR 31,156. For CAH, 95 second heel punctures and seven false-positives per year were avoided, leading to a related cost reduction of EUR 7340. For MSUD, five false-positives per year were avoided with a related cost reduction of EUR 11,336. The improved screening algorithms led to a cost reduction of EUR 49,832 annually. Together with the known negative psychosocial effects associated with an inconclusive or false-positive NBS result, these results highlight the importance of improving NBS algorithms.https://www.mdpi.com/2409-515X/10/4/70congenital adrenal hyperplasiacongenital hypothyroidismfalse-positive resultmaple syrup urine diseasenewborn screeningfinancial benefits |
| spellingShingle | Rosalie C. Martens Anita Boelen Michèle H. van der Kemp Annet M. Bosch Eveline M. Berghout Gert Weijman Nitash Zwaveling-Soonawala Rendelien K. Verschoof-Puite Robert de Jonge Sabine E. Hannema Judith E. Bosmans Annemieke C. Heijboer The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands International Journal of Neonatal Screening congenital adrenal hyperplasia congenital hypothyroidism false-positive result maple syrup urine disease newborn screening financial benefits |
| title | The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands |
| title_full | The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands |
| title_fullStr | The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands |
| title_full_unstemmed | The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands |
| title_short | The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands |
| title_sort | value of reducing inconclusive and false positive newborn screening results for congenital hypothyroidism congenital adrenal hyperplasia and maple syrup urine disease in the netherlands |
| topic | congenital adrenal hyperplasia congenital hypothyroidism false-positive result maple syrup urine disease newborn screening financial benefits |
| url | https://www.mdpi.com/2409-515X/10/4/70 |
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