随州市12656例新生儿疾病筛查四项结果分析

目的对随州市各区县医疗机构出生的活产新生儿进行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、先天性肾上腺皮质增生症(CAH)筛查,减少残疾儿的发生。方法以随州市2018年12 656例新生儿为研究对象,在出生72 h后充分哺乳6次以上,采足跟血制成滤纸干血片,检测血片中促甲状腺激素(TSH)、苯丙氨酸(Phe)、G6PD、17a-羟孕酮(17a-OHP)的含量。结果 CH确诊16例,发病率1/791;PKU确诊1例,发病率1/12 656;G6PD缺乏症确诊43例,发病率1/294;CAH确诊1例,发病率1/12 656。结论新生儿疾病筛查是早期诊断CH、PKU、G6PD缺乏症、CAH的有效措施,是降低患儿致残率、提高人口素质的关键。

Analysis on the results of four items of neonatal disease screening among 12656 neonates in Suizhou

Objective To conduct congenital hypothyroidism( CH),phenylketonuria( PKU),glucose-6-phosphate dehydrogenase( G6 PD) deficiency,congenital adrenocortical hyperplasia( CAH) screening among the live neonates born in medical institutions at district and county levels in Suizhou city,reduce the occurrence of children with disabilities. Methods A total of 12 656 neonates born in Suizhou in 2018 were selected as research object,they were fully breastfed more than 6 times after 72 hours,heel blood samples were obtained to make filter paper dry blood tablets,the levels of thyroid-stimulating hormone( TSH),phenylalanine( Phe),G6 PD deficiency,and 17 ahydroxyprogesterone( 17 a-OHP) in blood tablets were detected. Results Among the children,16 children were diagnosed as CH,the incidence rate was 1/791;one child was diagnosed as PKU,the incidence rate was 1/12 656;43 children were diagnosed as G6 PD deficiency,the incidence rate was 1/294;one child was diagnosed as CAH,the incidence rate was 1/12 656. Conclusion Neonatal disease screening is an effective measure for early diagnosis of CH,PKU,G6 PD deficiency,and CAH. It is the key to reduce disability rate of children and improve the quality of the population.