{"title":"建立新生儿筛查计划：低资源环境下的成功案例。","authors":"Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Nuzhat Humayun, Salman Kirmani, Aysha Habib Khan","doi":"10.29271/jcpsp.2025.03.387","DOIUrl":null,"url":null,"abstract":"<p><p>The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management. During the study period, coverage of NBS was tracked. Over a four-year period, 30,402 newborns were screened, with 96.2% coverage (total births-31610). Positive screening results (TSH>10 mIU/L) were found in 1.9% of neonates (n = 586), with confirmatory tests performed in 63.13% (n = 370) of these cases. CH was confirmed in 27 cases, with an incidence of 1:1126. This study demonstrated that NBS for CH was successfully implemented and highly effective. However, there is a need to further improve recall rates. Key Words: Congenital hypothyroidism, Dried blood spot testing, Newborn screening, Clinical efficacy.</p>","PeriodicalId":94116,"journal":{"name":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","volume":"35 3","pages":"387-389"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.\",\"authors\":\"Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Nuzhat Humayun, Salman Kirmani, Aysha Habib Khan\",\"doi\":\"10.29271/jcpsp.2025.03.387\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management. During the study period, coverage of NBS was tracked. Over a four-year period, 30,402 newborns were screened, with 96.2% coverage (total births-31610). Positive screening results (TSH>10 mIU/L) were found in 1.9% of neonates (n = 586), with confirmatory tests performed in 63.13% (n = 370) of these cases. CH was confirmed in 27 cases, with an incidence of 1:1126. This study demonstrated that NBS for CH was successfully implemented and highly effective. However, there is a need to further improve recall rates. Key Words: Congenital hypothyroidism, Dried blood spot testing, Newborn screening, Clinical efficacy.</p>\",\"PeriodicalId\":94116,\"journal\":{\"name\":\"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP\",\"volume\":\"35 3\",\"pages\":\"387-389\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.29271/jcpsp.2025.03.387\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29271/jcpsp.2025.03.387","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.
The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management. During the study period, coverage of NBS was tracked. Over a four-year period, 30,402 newborns were screened, with 96.2% coverage (total births-31610). Positive screening results (TSH>10 mIU/L) were found in 1.9% of neonates (n = 586), with confirmatory tests performed in 63.13% (n = 370) of these cases. CH was confirmed in 27 cases, with an incidence of 1:1126. This study demonstrated that NBS for CH was successfully implemented and highly effective. However, there is a need to further improve recall rates. Key Words: Congenital hypothyroidism, Dried blood spot testing, Newborn screening, Clinical efficacy.
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