海南省少数民族地区37482例新生儿遗传代谢病筛查结果分析

目的 探讨海南省少数民族地区新生儿多种遗传代谢病(I E M)的发病情况.方法 选择2018年1月1日至2020年1月31日,在海南省少数民族地区出生、监护人同意进行新生儿IEM筛查的37482例新生儿为研究对象.采用串联质谱法,对新生儿足跟血(滤纸干血斑标本)进行新生儿多种IEM筛查,对结果疑似IEM的部分新生儿,釆...

Analysis of 37482 newborns screened for inborn errors metabolism in minority nationality regions of Hainan Province

Objective To explore the incidence of various inborn errors metabolism(IEM)in newborns in minority nationality regions of Hainan Province.Methods A total of 37482 newborns born from January 1,2018 to January 31,2020 in minority nationality regions of Hainan Province were selected as research subjects.All guardians of these newborns agreed to be screened for IEM.Tandem mass spectrometry was used to screen neonatal heel blood(dried blood spots of disk bioassay)for various IEM.For part of newborns whose screening results were suspicious of IEM,their peripheral blood were collected and sent out for genetic testing to confirm the types of IEM and genetic mutations.The lowest incidence of IEM between male and female children in minority nationality regions of Hainan Province were compared statistically by chi-square test.This study was approved by the Medical Ethics Committee of Hainan General Hospital[Approval No.Medical Ethics(2018)No.14].Results①Among 38586 live births in research regions during the research period,there were 37482 cases received IEM screening,and the coverage rate of neonatal IEM screening was 97.1%.②Among 37482 newborns,89 of them were suspected of IEM.Among 89 suspected of IEM newborns,24 of them were conducted genetic testing,and 19 were firmly diagnosed as IEM.The diagnostic rate of IEM in 24 suspected newborns was 79.2%(19/24).Because only part of newborns with suspected IEM received genetic testing,the lowest incidence of IEM among newborns in the research regions was 51/100000(19/37482).In this study,the lowest incidence of IEM were 57/100000(12/21136)for males and 43/100000(7/16346)for females newborns,and there was no significant difference between them(χ²=0.354,P=0.552).③Among 19 newborns with firmly diagnosis of IEM all had gene mutations,and there were 5 cases of aminoacidopathy,5 cases of organic acid metabolism disorder,2 cases of urea circulation disorder and 7 cases of fatty acidβoxidation metabolism disorder,respectively.Conclusions The incidence of IEM in newborns in the research regions was relatively high and with many types.We suggest that various IEM screening should be carried out among newborns in minority nationality regions of Hainan Province to improve life quality of IEM newborns.