摘要
目的 分析新生儿中先天性肾上腺皮质增生症(CAH)的筛查数据,了解影响新生儿末梢血内17-羟孕酮表达水平的关键因素。方法 选取2020年12月23日至2022年12月27日年在本院新生儿筛查中心进行CAH筛查的新生儿纳入本研究。采用时间分辨荧光免疫分析法(TRFIA)检测末梢血中17-羟孕酮水平。依据不同性别、不同出生体重、不同采血时胎儿日龄、孕妇年龄及孕周将健康队列进行分组,使用Kruskal-Wallis秩和检验、独立样本Wilcoxon秩和检验、R square比较分析组间17-羟孕酮水平。结果 共纳入57366例新生儿,确诊2例CAH,发病率为0.035‰(2/57,366)。57364例新生儿血液中的17-羟孕酮表达水平为0.46~57.92 nmol/L,几何均数为4.6490(4.6299~4.6682)nmol/L。R^(2)值统计分析5个影响因素,重要性依次为孕周(R^(2)=0.1483)、出生体重(R^(2)=0.07006)、采血日龄(R^(2)=0.04857)、性别(R^(2)=0.007539)、分娩年龄(R^(2)=0.001884)。随孕周或出生体重增加,17-羟孕酮水平呈现下降趋势;早产/低出生体重组较正常组,17-羟孕酮水平存在显著差异(P<0.05)。分娩年龄增加,17-羟孕酮水平呈现轻微上升趋势。结论 新生儿末梢血中17-羟孕酮的表达水平主要受到孕周、出生体重、分娩年龄等因素影响,特别是早产儿/低出生体重新生儿,建立合理的切值可以防止误诊/漏诊。
Objective To analyze screening data of congenital adrenal hyperplasia(CAH)in newborns and identify the key factors influencing the level of 17-hydroxyprogesterone(17-OHP)in peripheral blood.Methods Newborns who underwent CAH screening at our hospital's newborn screening center from December 23,2020,to December 27,2022,were included in this study.The 17-OHP level in peripheral blood was measured using time-resolved fluoroimmunoassay(TRFIA).The healthy cohort was grouped based on gender,birth weight,fetal age at blood collection,maternal age,and gestational week.The Kruskal-Wallis rank-sum test,independent samples Wilcoxon rank-sum test,and R square analysis were employed to compare 17-OHP levels among groups.Results A total of 57,366 newborns were included,with 2 confirmed cases of CAH,yielding an incidence rate of 0.035‰(2/57,366).The 17-OHP levels in 57,364 newborns ranged from 0.46 to 57.92 nmol/L,with a geometric mean of 4.6490(4.6299-4.6682)nmol/L.Statistical analysis of the R2 values for the five influencing factors showed the following order of importance:gestational week(R2=0.1483),birth weight(R2=0.07006),fetal age at blood collection(R2=0.04857),gender(R2=0.007539),and maternal age(R2=0.001884).The 17-OHP level decreased with increasing gestational week or birth weight.Significant differences in 17-OHP levels were observed between the premature/low birth weight group and the normal group(P<0.05).A slight upward trend in 17-OHP levels was observed with increasing maternal age.Conclusion The level of 17-OHP in neonatal peripheral blood is primarily influenced by gestational week,birth weight,and maternal age,particularly in premature/low birth weight newborns.Establishing reasonable cutoff values can help prevent misdiagnoses and missed diagnoses.
作者
李萍
孙学成
曹玉龙
李雨雨
李洪俞
韩冰瑶
牟凯
LI Ping;SUN Xue-cheng;CAO Yu-long;LI Yu-yu;LI Hong-yu;HAN Bing-yao;MU Kai(Department of Medical Genetic,Zibo Maternal and Child Health Hospital,Zibo 255000,Shandong Province,China)
出处
《罕少疾病杂志》
2025年第9期131-134,共4页
Journal of Rare and Uncommon Diseases
关键词
17-羟孕酮
新生儿
时间分辨荧光免疫分析法
17-hydroxyprogesterone(17-OHP)
Newborns
Time-resolved Fluoroimmunoassay(TRFIA)
