Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

Q3 Medicine

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI:10.1590/2326-4594-JIEMS-2019-0002

M. Larrandaburu, F. Vianna, Karina Griot, C. Queijo, G. Monzón, C. Ugarte, L. Nacul, L. Schuler‐Faccini, M. Sanseverino

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引用次数: 4

Abstract

 Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and

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乌拉圭的罕见疾病:重点关注新生儿筛查异常的婴儿

摘要简介:乌拉圭新生儿筛查项目(NBS)包括先天性甲状腺功能减退症(CHT)、苯丙酮尿症(PKU)、先天性肾上腺增生症(CAH)、囊性纤维化(CF)、中链酰基辅酶a脱氢酶缺乏症(MCADD)和先天性听力损失(CHL)。目的:本研究描述了乌拉圭通过血滴和耳声发射诊断的新生儿筛查异常新生儿的流行病学特征。结果:新生儿NBS检查异常399例;0.17%)与同期检查正常的新生儿(239,240)进行比较。CHL的患病率(每10,000例活产)为10.00;CH为3.70;CF 1.20;CAH为0.59;PKU 0.54;0.13为MCADD。阿提加斯系的异常检测率最高。CHL患儿母亲受教育程度低、产前护理少、早产率增高、新生儿抑郁发生率高。结论:这是第一项评估乌拉圭筛查异常新生儿特征的研究。由于这些结果可能会影响卫生服务的规划，因此需要在临床护理和公共卫生系统之间传输数据，以改善随访和预防工作

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.