Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015)

Q3 Medicine

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI:10.1590/2326-4594-jiems-2019-0003

A. Funez, M. E. Lara, A. Chévez, E. Castellón, S. Perán, M. J. Toro, Eladio Montoya, J. Varró

{"title":"Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015)","authors":"A. Funez, M. E. Lara, A. Chévez, E. Castellón, S. Perán, M. J. Toro, Eladio Montoya, J. Varró","doi":"10.1590/2326-4594-jiems-2019-0003","DOIUrl":null,"url":null,"abstract":" Abstract The aim of this study is to evaluate the Nicaraguan screening program for congenital hypothyroidism in terms of coverage and effectiveness of detection and confirmation of cases with the condition throughout a decade. Thyrotropin was quantified in cord-blood samples by a validated ELISA and a cut-off of 20 mU/l was applied. Coverage, positive predictive value, recall rate and prevalence were retrospectively analysed. Babies with positive screening results were contacted for confirmation by means of determination of thyrotropin and thyroid profile in serum samples. 272,338 babies were screened during the period 2005-2015. The mean coverage reached by the program in the participating departments was 71%, with a positive predictive value of 83% and a recall rate of 0.055%. Eighty cases of congenital hypothyroidism were identified, representing an incidence of 1 in 3229 live births, most of them (81%) being severe. The performance of the Nicaraguan screening program is comparable to those in Latin America also using cord-blood samples. The incidence of congenital hypothyroidism is within the low range of other countries worldwide. Strategies are needed to expand the program to the whole country, improve recall rates and achieve earlier treatment of babies, with the","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"29 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Inborn Errors of Metabolism and Screening","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/2326-4594-jiems-2019-0003","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 1

Abstract

 Abstract The aim of this study is to evaluate the Nicaraguan screening program for congenital hypothyroidism in terms of coverage and effectiveness of detection and confirmation of cases with the condition throughout a decade. Thyrotropin was quantified in cord-blood samples by a validated ELISA and a cut-off of 20 mU/l was applied. Coverage, positive predictive value, recall rate and prevalence were retrospectively analysed. Babies with positive screening results were contacted for confirmation by means of determination of thyrotropin and thyroid profile in serum samples. 272,338 babies were screened during the period 2005-2015. The mean coverage reached by the program in the participating departments was 71%, with a positive predictive value of 83% and a recall rate of 0.055%. Eighty cases of congenital hypothyroidism were identified, representing an incidence of 1 in 3229 live births, most of them (81%) being severe. The performance of the Nicaraguan screening program is comparable to those in Latin America also using cord-blood samples. The incidence of congenital hypothyroidism is within the low range of other countries worldwide. Strategies are needed to expand the program to the whole country, improve recall rates and achieve earlier treatment of babies, with the

查看原文本刊更多论文

尼加拉瓜新生儿先天性甲状腺功能减退筛查:2005-2015年脐带血促甲状腺素项目审计

摘要本研究的目的是评估尼加拉瓜先天性甲状腺功能减退筛查项目在过去十年中对先天性甲状腺功能减退病例的检测和确认的覆盖率和有效性。采用经验证的酶联免疫吸附试验(ELISA)定量脐带血样品中的促甲状腺素，临界值为20 mU/l。回顾性分析覆盖率、阳性预测值、召回率和患病率。联系筛查结果阳性的婴儿，通过测定血清样本中的促甲状腺素和甲状腺特征进行确认。2005-2015年期间，对272,338名婴儿进行了筛查。该计划在参与部门的平均覆盖率为71%，阳性预测值为83%，召回率为0.055%。发现了80例先天性甲状腺功能减退症，发病率为1 / 3229，其中大多数(81%)是严重的。尼加拉瓜筛查项目的效果与拉丁美洲同样使用脐带血样本的项目相当。先天性甲状腺功能减退症的发病率在世界其他国家中处于较低的范围。需要制定策略，将该计划扩大到全国，提高召回率，并实现对婴儿的早期治疗

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Inborn Errors of Metabolism and Screening

CiteScore

0.60

自引率

0.00%

发文量

审稿时长

12 weeks

期刊介绍： The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.