2002-2021年大连市新生儿疾病筛查回顾分析  

Retrospective analysis of neonatal disease screening in Dalian area from 2002 to 2021

作　　者：路遥 安邦豪 牟晓华 于海华 LU Yao;AN Banghao;MOU Xiaohua;YU Haihua(Medical Center of Genetic and Metabolic,Dalian Women and Children’s Medical Group,Dalian,Liaoning 116033,China;Integrated Health Services Branch,Dalian Women and Children’s Medical Group,Dalian,Liaoning 116033,China)

机构地区：[1]大连市妇女儿童医疗中心(集团)遗传代谢医疗中心,辽宁大连116033 [2]大连市妇女儿童医疗中心(集团)综合保健科,辽宁大连116033

出　　处：《中国优生与遗传杂志》2023年第8期1685-1688,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 通过回顾分析大连市2002-2021年870386例新生儿疾病筛查数据,了解大连市新生儿疾病筛查率及高苯丙氨酸血症(HPA)、先天性甲状腺功能低下症(CH)、先天性肾上腺皮质增生症(CAH)的发病率,为进一步完善大连市新生儿疾病筛查及干预工作提供依据。方法 新生儿出生72h且充分哺乳后采集足跟血,邮寄或者运送至遗传代谢医疗中心(原新生儿疾病筛查中心),检测血片中苯丙氨酸(Phe)、促甲状腺激素(TSH)及17-羟孕酮(17-OHP)的浓度,并统计大连市2002-2021年新生儿疾病筛查数据。结果 大连市2002-2021年共出生活产新生儿948495例,其中870386例新生儿参加HPA和CH筛查,筛查率由2002年的34.12%提升至2021年的99.83%;确诊HPA 176例,其发病率为1/4945;确诊CH419例,其发病率为1/2077;2019年12月起共有70426例新生儿参加CAH筛查,确诊CAH3例,其发病率为1/23475。结论 大连市新生儿疾病筛查率总体稳步提高呈上升趋势,早期筛查、诊断及干预治疗,有利于减轻患儿智力和身体发育落后,提高大连市出生人口素质。Objective By reviewing and analyzing the data of 870386 cases of neonatal diseases screening in Dalian from 2002 to 2021,the screening rate of neonatal diseases and the incidence of hyperphenylalaninemia(HPA),congenital hypothyroidism(CH)and congenital adrenal hyperplasia(CAH)in Dalian were investigated.To provide a basis for further improvement of neonatal disease screening and intervention in Dalian.Methods Heel blood was collected 72 hours after birth and after full lactation and sent by post or delivery to the Genetic Metabolic Medical Center(formerly the Screening Center for Neonatal Diseases).The concentrations of phenylalanine(Phe),thyroid stimulating hormone(TSH)and 17-hydroxyprogesterone(17-OHP)in blood tablets were measured.The data of neonatal disease screening in Dalian from 2002 to 2021 were collected.Results A total of 948495 newborns were born in Dalian from 2002 to 2021,among which 870386 were screened for hyper-phenylalaninemia and congenital hypothyroidism,the screening rate increased from 34.12%in 2002 to 99.83%in 2021.176 cases of HPA were diagnosed,with an incidence of 1/4945.419 cases of CH were diagnosed,the incidence of which was 1/2077.Since December 2019,70426 newborns have been screened for congenital adrenal hyperplasia,and 3 cases of CAH have been diagnosed,with an incidence rate of 1/23475.Conclusion The screening rate of neonatal diseases in Dalian has been steadily increasing,and the early screening,diagnosis and intervention treatment are conducive to reducing the mental and physical development of children and improving the quality of the born population in Dalian.

关 键 词：新生儿疾病筛查 高苯丙氨酸血症 先天性甲状腺功能低下症 先天性肾上腺皮质增生症 

分 类 号：R722.1[医药卫生—儿科]