Ye Liang, Zhang Yinhong, Feng Jizhen, Huang Cidan, Wang Xiaohua, Han Lianshu, Huang Yonglan, Zou Hui, Zhu Baosheng, Miao Jingkun
Department of Pediatrics, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, China.
Department of Medical Genetics, NHC Key Laboratory of Preconception Health in Western China, The First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650100, China.
Int J Neonatal Screen. 2024 Nov 29;10(4):78. doi: 10.3390/ijns10040078.
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021. Clinical characteristics were collected. Second-generation sequencing was used to detect four CH-related genes, and the genetic patterns of the pathogenic genes were analyzed. We analyzed the relationship between genotype and biochemical phenotype. A total of 29,601 newborns were screened for CH. Gene panel sequencing identified 18 patients, including 10 patients affected by biochemically and genetically screened disorders and 8 patients affected by solely genetically screened disorders. The predictive positive value of genetic screening was 34.62%, which was much greater than that of biochemical screening alone (17.99%). A total of 94 cases of congenital thyroid dysfunction were confirmed by biochemical and genetic screening, including 30 CHs and 64 isolated hyperthyrotropinemia (HTT), with an incidence of 1/987 for CH and 1/463 for HTT, and a total incidence of 1/315 for hypothyroidism. The incidence rate and number of patients in Jinan were the highest, and the incidence rates in Shijiazhuang and Shanghai were the lowest. The gene mutation rate in this study was 19.1%, mainly mutation. The most common variant of was c.1588A>T(p.Lys530*). There was only a difference in sFT4 between groups with gene mutations and those without mutations. Genetic screening is a supplement to biochemical screening. Combining biochemical screening with genetic screening is useful for improving screening efficiency. The incidence of CH in China according to a multicenter study of nearly 30,000 NBS surveys was 1/315. gene mutations are commonly detected in these patients.
新生儿先天性甲状腺功能减退症（CH）筛查已在全球广泛应用。本研究的目的是评估应用生化检测和基因 panel 测序作为CH筛查试验的有效性，并分析中国CH的突变谱。2021年2月至12月期间，在中国8家医院前瞻性招募新生儿。收集临床特征。采用二代测序检测4个与CH相关的基因，并分析致病基因的遗传模式。我们分析了基因型与生化表型之间的关系。共对29,601名新生儿进行了CH筛查。基因panel测序鉴定出18例患者，其中10例患者同时受到生化和基因筛查疾病的影响，8例患者仅受到基因筛查疾病的影响。基因筛查的预测阳性值为34.62%，远高于单纯生化筛查（17.99%）。通过生化和基因筛查共确诊94例先天性甲状腺功能障碍，其中包括30例CH和64例孤立性促甲状腺激素血症（HTT），CH的发病率为1/987，HTT的发病率为1/463，甲状腺功能减退症的总发病率为1/315。济南的发病率和患者数量最高，石家庄和上海的发病率最低。本研究中的基因突变率为19.1%，主要为 突变。 的最常见变异是c.1588A>T（p.Lys530*）。有基因突变组和无基因突变组之间仅sFT4存在差异。基因筛查是生化筛查的补充。将生化筛查与基因筛查相结合有助于提高筛查效率。根据一项对近30,000例新生儿疾病筛查的多中心研究，中国CH的发病率为1/315。这些患者中常见 基因突变。
