宁波市2011年-2014年新生儿先天性甲状腺功能减低症筛查情况分析

Analysis on the screening results of neonatal congenital hypothyroidism in Ning-bo from 2011 to 2014

目的调查分析宁波地区2011年~2014年新生儿先天性甲状腺功能减低症（congenital hypothyroidism,简称CH）的筛查和确诊情况,了解本地区该病的筛查情况,为今后进一步做好筛查工作提供有效依据。方法利用时间分辨免疫荧光分析（DELFIA）对2011年~2014年宁波市出生的新生儿进行足底血片筛查,诊断筛查结果阳性者通过测定TSH、游离T3（FT3）、游离T4（FT4）复查进行确诊。结果 2011年~2014年宁波地区CH筛查人数分别为89 619例,95 313例,89 469例,87 312例,CH确诊人数分别为61例,86例,58例,68例。CH发病率分别为68.07/10万,90.23/10万,64.83/10万,77.88/10万,经χ2趋势检验,历年发病率差异无统计学意义。4年间CH阳性人数召回率分别为97.24%,98.82%,98.38%,98.63%,有109例阳性标本失召。结论宁波地区CH发病率高,而新生儿疾病筛查是CH早期诊断的有效措施,建立有效的筛查、召回及随访系统,降低CH患儿病残率,从而提高出生人口素质。

Objective：To analyze the screening and definite diagnosis results of neonatal hypothyroidism（CH）in Ningbo from 2011 to 2014,understand CH screening situation in Ningbo,provide a basis for further accomplishing CH screening. Methods：DELFIA was used to detect thyroid stimulating hormone（TSH）concentration in dried blood spot specimens of the neonates born in Ningbo from 2011 to 2014,the positive neonates were recalled for definite diagnosis,TSH,free triiodothyronine and free thyroxine concentrations were reexamined. Results：From 2011 to 2014,89 619 neonates,95 313 neonates,89 469 neonates,and 87 312 neonates received CH screening,respectively;61 neonates,86 neonates,58 neonates,and 68 neonates were diagnosed as CH definitely,respectively;the morbidities of CH were 68.07/100 000,90.23/100 000,64.83/100 000,77.88/100 000,respectively,there was no statistically significant difference in morbidity of CH. The recall rates of positive neonates were 97.24%,98.82%,98.38% and 98.63% respectively;109 positive neonates were missed eventually. Conclusion：Neonatal screening is an effective measure for early diagnosis of CH. the establishment of effective screening,recall and follow-up systems to reduce morbidity in children with CH,thereby improving the quality of births.