Implementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco.

IF 4 Q1 GENETICS & HEREDITY
Fatima Wahoud, Samia Essadki, Khadija Zirar, Rajae Lamsyah, Wissam Hajjaji, Rim Amrani
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Abstract

Congenital hypothyroidism (CH) is one of the major preventable causes of intellectual disability. This study evaluates the incidence of CH through a newborn screening (NBS) program in eastern Morocco. A descriptive cross-sectional design was used and heel prick blood samples were collected on blotting paper to measure Thyroid-Stimulating Hormone (TSH) using an immunofluorimetric assay. 4062 newborns were screened (51.3% male, 48.7% female). TSH levels significantly varied by age: newborns sampled before 24 h had a higher median TSH (3.7 µU/mL [0.10-28.90]) compared to those sampled at 24 h or more (2.1 µU/mL [0.10-32.30]; p < 0.001). Using age-specific cut-off values, 18 suspected CH cases were recalled (recall rate: 0.44%). Among the 16 cases who completed confirmatory testing, 4 had transient hyperthyrotropinemia (HTT), characterized by mildly abnormal serum TSH and T4 levels that normalized spontaneously after few months without treatment. Three cases were diagnosed with CH confirmed at birth with markedly elevated serum TSH concentrations and significantly reduced T4 levels. Consequently, the birth prevalence of CH confirmed at birth was 1:1354 live births. The median preanalytical delay was 6 days (IQR: 3-12) and the TSH result turnaround was 8 days (IQR: 5-15), potentially affecting timely intervention. This first report from eastern Morocco confirms the relevance of neonatal screening but highlights delays that must be addressed to enhance early diagnosis and management.

摩洛哥东部先天性甲状腺功能减退症新生儿筛查项目的实施。
先天性甲状腺功能减退症(CH)是智力残疾的主要可预防原因之一。本研究通过摩洛哥东部的新生儿筛查(NBS)项目来评估CH的发病率。采用描述性横断面设计,并在印迹纸上收集足跟刺血样本,使用免疫荧光法测量促甲状腺激素(TSH)。共筛查新生儿4062例(男51.3%,女48.7%)。TSH水平随年龄变化显著:24小时前采样的新生儿TSH中位数(3.7 μ U/mL[0.10-28.90])高于24小时或更长时间采样的新生儿(2.1 μ U/mL [0.10-32.30]);P < 0.001)。采用年龄分界值,召回18例疑似CH病例(召回率:0.44%)。在完成确认试验的16例患者中,4例有短暂性高甲状腺素血症(HTT),其特征是血清TSH和T4水平轻度异常,未经治疗几个月后自发恢复正常。3例出生时确诊为CH,血清TSH浓度明显升高,T4水平明显降低。因此,出生时确认的CH出生患病率为1:1354活产。中位分析前延迟为6天(IQR: 3-12), TSH结果周转为8天(IQR: 5-15),可能影响及时干预。这份来自摩洛哥东部的第一份报告证实了新生儿筛查的相关性,但强调了必须解决的延误问题,以加强早期诊断和管理。
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
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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