1981-2019年河北省新生儿苯丙酮尿症的筛查分析  

Neonatal PKU screening in Hebei province:analysis and thinking of results from 1981 to 2019

作　　者：祁晓峰 张昊昱 李晓霞 曹琴英 王翠霞 余小平[2] 张平 宋占云 朱俊真[2] 王艳飞 QI Xiaofeng;ZHANG Haoyu;LI Xiaoxia;CHAO Qinying;WANG Cuixia;YU Xiaoping;ZHANG Ping;SONG Zhanyun;ZHU Junzhen;WANG Yanfei(Hebei Maternity Hospital Prenatal Diagnosis,Shijiangzhuang,Hebei 050051,China;Hebei General Hospital,Shijiangzhuang,Hebei 050071,China;Hebei Provincial Health Commission,Shijiangzhuang,Hebei 050000,China)

机构地区：[1]河北生殖妇产医院产前诊断,河北石家庄050051 [2]河北省人民医院,河北石家庄050071 [3]河北省卫生健康委员会,河北石家庄050000

出　　处：《中国优生与遗传杂志》2021年第2期241-242,共2页Chinese Journal of Birth Health & Heredity

基　　金：河北省医学科学研究重点课题(20200211)。

摘　　要：目的了解河北省新生儿苯丙酮尿症筛查对确诊苯丙酮尿症(phenylketonuria,PKU)患者的基因诊断情况,为预防PKU遗传咨询产前基因诊断提供科学依据。方法本省开展新生儿疾病筛查较早省份,1981年开始有6家医疗保健机构参加了新生儿疾病筛查项目至2019年河北省11所新生儿疾病筛查中心进行PKU筛查的新生儿作为研究对象,在出生后72 h采取足跟血,进行检测。结果12739346新生儿筛查中被确诊PKU 1424例,发病率为1∶8946。各市发病率有较大差异,最高为1∶4082,最低为1∶11765。随访116个家庭,其中95个家庭中有1个PKU患儿,占81.90%;20个家庭中有2个PKU患儿,占17.24%;有3个患儿的1个家庭,占0.86%。结论河北省是PKU高发区同时发现1个家出生2个甚至3个患儿,这成为预防的难题,为此,需进一步调整苯丙酮尿症防治策略,对确诊的患儿进行基因诊断,其意义有助于指导再生育、有助于遗传咨询和孕期干预,进而减少苯丙酮尿症患儿的出生。Objecive Aim Understand genetic diagnosis of PKU patients in Hebei Province Neonatal PKU Screening and provide scientific basis of prenatal diagnosis and genetic counseling for PKU prevention.Methods Carrying out of neonatal disease screening in Hebei is early among provinces in China.Since 1981,6 healthcare institutions have participated in the neonatal disease screening project.Newborns screened for PKU by 11 neonatal disease screening centers in Hebei Province as part of the research until 2019.Heel blood was taken 72 hours after birth for testing.Results In 12739346 tested newborns,1424 cases of PKU were confirmed,with an incidence rate of 1:8946.The incidence rate varies greatly from city to city,the highest is 1:4082,and the lowest is 1:11765.116 families were followed up,among which 95 families had 1 child with PKU,accounting for 81.90%;20 families had 2 children with PKU,accounting for 17.24%;1 family with 3 children,accounting for 0.86%.Conclusion Hebei Province is an area with a high incidence of PKU.At the same time,two or even three children with PKU born in one family have been found,which has become a difficult problem for prevention.Thus,we need to further adjust the prevention and treatment strategy of PKU and carry out genetic diagnosis of children.Its significance is helpful to guide reproduction,provide basis for genetic counseling and intervention during pregnancy,thereby reducing the incidence of PKU.

关 键 词：新生儿疾病筛查 遗传代谢病 基因诊断 产前诊断 遗传咨询 

分 类 号：R722.1[医药卫生—儿科]