ISNS General Guidelines for Neonatal Bloodspot Screening 2025
Part of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn period for critical congenital heart disease, hearing impairment, b...
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| Format: | Article |
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MDPI AG
2025-06-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/11/2/45 |
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| author | Dianne Webster Amy Gaviglio Aysha Habib Khan Mei Baker David Cheillan Layachi Chabraoui Ghassan Abdoh Juan Cabello Roberto Giugliani Dimitris Platis Jan Østrup R. Rodney Howell Peter C. J. I. Schielen James R. Bonham |
| author_facet | Dianne Webster Amy Gaviglio Aysha Habib Khan Mei Baker David Cheillan Layachi Chabraoui Ghassan Abdoh Juan Cabello Roberto Giugliani Dimitris Platis Jan Østrup R. Rodney Howell Peter C. J. I. Schielen James R. Bonham |
| author_sort | Dianne Webster |
| collection | DOAJ |
| description | Part of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn period for critical congenital heart disease, hearing impairment, birth defects, and congenital biochemical disorders (usually on bloodspots), this guideline is specifically about bloodspot screening. The ISNS has provided neonatal screening guidelines for many years and here presents the renewed 2025 General Guidelines for Neonatal Bloodspot Screening. They are intended to provide a framework for screening programs to develop specific policies around all aspects of the newborn screening system, offering the basic set of items for consideration. These guidelines provide trusted anchors to build, expand, or maintain robustly organized neonatal or newborn screening (NBS) programs and a checklist to evaluate and improve the essential elements of those programs. For starting or developing programs, it is a set of elements for which provisions need to be in place and a checklist of items that the screening program should at a minimum have provisions for. The publication of these guidelines is meant as a starting point for interactive discussion, to further improve this document and expand where necessary. |
| format | Article |
| id | doaj-art-b501195d21c44c28beffe3530d63e568 |
| institution | Kabale University |
| issn | 2409-515X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj-art-b501195d21c44c28beffe3530d63e5682025-08-20T03:24:33ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2025-06-011124510.3390/ijns11020045ISNS General Guidelines for Neonatal Bloodspot Screening 2025Dianne Webster0Amy Gaviglio1Aysha Habib Khan2Mei Baker3David Cheillan4Layachi Chabraoui5Ghassan Abdoh6Juan Cabello7Roberto Giugliani8Dimitris Platis9Jan Østrup10R. Rodney Howell11Peter C. J. I. Schielen12James R. Bonham13National Newborn Screening Laboratory, LabPlus, Health New Zealand Te Whatu Ora, Auckland 1023, New ZealandConnetics Consulting, LLC, Minneapolis, MN 55417, USADepartment of Pathology and Lab Medicine, Aga Khan University, Karachi 74800, PakistanWisconsin State Laboratory of Hygiene, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53726, USACentre Régional de Dépistage Néonatal Auvergne Rhône-Alpes (CRDN AuRA), 69003 Lyon, FranceFaculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat 10100, MoroccoNewborn Screening/Neonatal Intensive Care Unit, Pediatrics Department, Hamad Medical Corporation, Doha P.O. Box 3050, QatarInstituto de Nutrición y Tecnología de los Alimentos (INTA), University of Chile, Santiago 7830489, ChilePostgraduate Program in Genetics and Molecular Biology UFRGS, Medical Genetics Service HCPA, Dasa Genomica, and Casa dos Raros, Porto Alegre 90610-261, BrazilDepartment of Newborn Screening, Institute of Child Health, 11527 Athens, GreeceInternational Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The NetherlandsHussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USAInternational Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The NetherlandsInternational Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The NetherlandsPart of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn period for critical congenital heart disease, hearing impairment, birth defects, and congenital biochemical disorders (usually on bloodspots), this guideline is specifically about bloodspot screening. The ISNS has provided neonatal screening guidelines for many years and here presents the renewed 2025 General Guidelines for Neonatal Bloodspot Screening. They are intended to provide a framework for screening programs to develop specific policies around all aspects of the newborn screening system, offering the basic set of items for consideration. These guidelines provide trusted anchors to build, expand, or maintain robustly organized neonatal or newborn screening (NBS) programs and a checklist to evaluate and improve the essential elements of those programs. For starting or developing programs, it is a set of elements for which provisions need to be in place and a checklist of items that the screening program should at a minimum have provisions for. The publication of these guidelines is meant as a starting point for interactive discussion, to further improve this document and expand where necessary.https://www.mdpi.com/2409-515X/11/2/45biobankingparent consentlaboratory practicequality assurancecase definitionscreening system |
| spellingShingle | Dianne Webster Amy Gaviglio Aysha Habib Khan Mei Baker David Cheillan Layachi Chabraoui Ghassan Abdoh Juan Cabello Roberto Giugliani Dimitris Platis Jan Østrup R. Rodney Howell Peter C. J. I. Schielen James R. Bonham ISNS General Guidelines for Neonatal Bloodspot Screening 2025 International Journal of Neonatal Screening biobanking parent consent laboratory practice quality assurance case definition screening system |
| title | ISNS General Guidelines for Neonatal Bloodspot Screening 2025 |
| title_full | ISNS General Guidelines for Neonatal Bloodspot Screening 2025 |
| title_fullStr | ISNS General Guidelines for Neonatal Bloodspot Screening 2025 |
| title_full_unstemmed | ISNS General Guidelines for Neonatal Bloodspot Screening 2025 |
| title_short | ISNS General Guidelines for Neonatal Bloodspot Screening 2025 |
| title_sort | isns general guidelines for neonatal bloodspot screening 2025 |
| topic | biobanking parent consent laboratory practice quality assurance case definition screening system |
| url | https://www.mdpi.com/2409-515X/11/2/45 |
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