梅州市2012-2014年新生儿四病筛查及干预结果

The analysis of 4 types neonate disease screening results in Meizhou city 2012-2014

目的了解梅州市新生儿四病的发病率,探讨开展新生儿四病筛查的重要性。方法分析2012年1月至2014年12月梅州市新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、葡萄糖-6--磷酸脱氢酶(G6PD)缺乏症和地中海贫血(地贫)这四病的筛查结果及干预效果。结果 2012年1月至2014年12月梅州市各分娩机构出生新生儿226 591例,接受四病筛查的新生儿共216 080例,筛查率95.4%。三年来CH、PKU、G6PD缺乏症的发生率分别为0.054%、0.002%、5.18%;α-地贫、β-地贫及异常血红蛋白病的发生率分别为8.76%、3.37%及0.39%,其中中间型α-地贫的发生率为0.17%,中重型β-地贫的发生率为0.03%。三年来确诊为地中海贫血的患儿共16 478名,其中贫血发生率为21.03%,黄疸发生率为5.77%。所有确诊的患儿均得到有效治疗和干预,无1例发生机体损伤或智力残疾。结论开展新生儿四病筛查,可避免患儿发生不可逆的体格和智力损伤,对地贫防控有重要意义。

Objective To investigate the incidence of 4 types of the neonate diseases in Meizhou city and discuss the importance of the neonate disease screening. Methods Neonate congenital hypothyroidism（CH）,phenylketonuria（PKU）,glucose-6-phosphate dehydrogenase deficiency（G6PDD） and thalassemia screening results were obtained from the 4 types of neonate diseases screening programs in Meizhou from Jan 2012 to Dec 2014 and analyzed the interventional affection. Results The 216 080 neonates were screened for 4 type neonatal diseases among the 226 591 newborns of Meizhou city during Jan 2012 to Dec 2014. The prevalence of CH,PKU and G6 PDD were 0.054%,0.002% and 5.18%, respectively. The incidences of alpha-thalassemia,betathalassemia,and hemoglobin variants were 8.76%,3.37% and 0.39%,respectively,which included the mediate alpha-thalassemia 0.17% and mediate or severe beta thalassemia 0.03%. There were 16 478 newborns confirmed as thalassemia,and the anemia and jaundice incidence of which were 21.03% and 5.77%,respectively. All confirmed newborns disease patients were effective treatment and without physical or mental disability. Conclusions The incidences of neonate diseases were higher than the national average level except the PKU in Meizhou city. The earlier screening and intervention can avoid irreversible physical and mental damage. It is important to initiate the thalassemia newborn screening in Meizhou.