The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screenin...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-08-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/3/68 |
| _version_ | 1827707563602345984 |
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| author | Svetlana Lajic Leif Karlsson Rolf H. Zetterström Henrik Falhammar Anna Nordenström |
| author_facet | Svetlana Lajic Leif Karlsson Rolf H. Zetterström Henrik Falhammar Anna Nordenström |
| author_sort | Svetlana Lajic |
| collection | DOAJ |
| description | Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and <i>CYP21A2</i> genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described. |
| first_indexed | 2024-03-10T16:49:20Z |
| format | Article |
| id | doaj.art-f5470f832d3d48f0acbc2d9e9bcb7e66 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T16:49:20Z |
| publishDate | 2020-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-f5470f832d3d48f0acbc2d9e9bcb7e662023-11-20T11:22:28ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-08-01636810.3390/ijns6030068The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the PatientsSvetlana Lajic0Leif Karlsson1Rolf H. Zetterström2Henrik Falhammar3Anna Nordenström4Department of Women’s and Children’s Health, Karolinska Institutet, SE-17176 Stockholm, SwedenDepartment of Women’s and Children’s Health, Karolinska Institutet, SE-17176 Stockholm, SwedenCenter for Inherited Metabolic Diseases, Karolinska University Hospital, SE-17176 Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, SE-17176 Stockholm, SwedenDepartment of Women’s and Children’s Health, Karolinska Institutet, SE-17176 Stockholm, SwedenNeonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and <i>CYP21A2</i> genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described.https://www.mdpi.com/2409-515X/6/3/68neonatal screeningcongenital adrenal hyperplasiaCAH21-hydroxylase deficiencylong-term outcome |
| spellingShingle | Svetlana Lajic Leif Karlsson Rolf H. Zetterström Henrik Falhammar Anna Nordenström The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients International Journal of Neonatal Screening neonatal screening congenital adrenal hyperplasia CAH 21-hydroxylase deficiency long-term outcome |
| title | The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients |
| title_full | The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients |
| title_fullStr | The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients |
| title_full_unstemmed | The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients |
| title_short | The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients |
| title_sort | success of a screening program is largely dependent on close collaboration between the laboratory and the clinical follow up of the patients |
| topic | neonatal screening congenital adrenal hyperplasia CAH 21-hydroxylase deficiency long-term outcome |
| url | https://www.mdpi.com/2409-515X/6/3/68 |
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