Yu Bin, Long Wei, Yang Yuqi, Wang Ying, Jiang Lihua, Cai Zhengmao, Wang Huaiyan
Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, China.
Front Genet. 2018 Oct 29;9:509. doi: 10.3389/fgene.2018.00509. eCollection 2018.
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4.8%. We also designed a target sequencing panel including 13 causative genes: , , , , , , , , , , , and , to identify the spectrum and prevalence of disease-causing gene mutations in Chinese CH patients. CH-causing genes were detected by targeted next-generation sequencing in 106 CH infants. A total of 132 mutations were identified in 69 cases (65.1%). Of these 132 mutations, 92 (69.70%), 28 (21.21%), and 12 (9.09%) were related to thyroid dyshormonogenesis, thyroid dysgenesis, and thyrotropin resistance, respectively. Mutations in CH-causing genes were found mainly in , and , and is the most gene mutation in Chinese CH patients.
为回顾先天性甲状腺功能减退症（CH）新生儿筛查的特点，我们回顾了过去14年接受新生儿筛查项目的所有新生儿的筛查数据，包括血斑促甲状腺激素（TSH）水平、血清TSH和游离甲状腺素（FT4）水平。共有437342名新生儿接受了CH筛查，192名婴儿被诊断为CH，CH的发病率为1:2278。初筛阳性率为0.96%，阳性预测值为4.8%。我们还设计了一个包含13个致病基因的靶向测序 panel：，，，，，，，，，，，和，以确定中国CH患者致病基因突变的谱型和患病率。对106例CH婴儿进行靶向二代测序检测致病基因。共在69例（65.1%）中鉴定出132个突变。在这132个突变中，分别有92个（69.70%）、28个（21.21%）和12个（9.09%）与甲状腺激素合成障碍、甲状腺发育不全和促甲状腺激素抵抗有关。致病基因突变主要见于，和，且是中国CH患者中最常见的基因突变。 （注：原文中部分基因名称未完整给出，翻译时保留原文形式）
