西安市先天性肾上腺皮质增生症新生儿末梢血17α-羟孕酮筛查切值研究  

Study on the Cut-off Value of 17α-Hydroxyprogesterone in Peripheral Blood of Neonates with Congenital Adrenal Hyperplasia in Xi’an

作　　者：南阿妮 孟祥萍 万星琦 郭蕾 NAN A-ni;MENG Xiang-ping;WAN Xing-qi;GUO Lei(Xi’an Maternal and Child Health Care Hospital,Xi’an 710003,China)

机构地区：[1]西安市妇幼保健院,西安710003

出　　处：《现代检验医学杂志》2022年第2期153-156,共4页Journal of Modern Laboratory Medicine

基　　金：西安市科技计划项目(编号:XA2020-YXYJ-0377)。

摘　　要：目的初步探讨西安市不同性别、孕周及出生体重新生儿先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)筛查切值。方法回顾性分析2019年1月~2020年12月西安市新生儿疾病筛查中心170949例新生儿,出生体重为3.245±2.735 kg,孕周为34.05±9.05周,采用全自动荧光免疫分析仪检测足跟血17α-羟孕酮(17α-hydroxyprogesterone,17α-OHP)水平,其中初筛阳性2678例,筛查阳性391例,确诊14例。按照性别、出生孕周和体重进行分组,组间差异有统计学意义(P<0.05),并以99%百分位数确定切值。结果不同性别、出生孕周及体重新生儿17α-OHP浓度99%百分位数在9.40~24.47 nmol/L之间,组间差异具有统计学意义(Z=22.50~104.31,均P=0.000)。不同性别、出生孕周及体重新生儿17α-OHP初筛阳性率及筛查阳性率组间差异具有统计学意义(χ^(2)=20.578~7152.872,均P=0.000)。性别、出生孕周和体重与17α-OHP水平呈负相关,Beta系数分别为-0.077,-0.282和-0.147。早产或低体重新生儿以22.00 nmol/L为切值时,初筛阳性病例由2678例减少至1649例。结论不同孕周及出生体重新生儿17α-OHP水平有差异,应将西安地区新生儿17α-OHP筛查切值修改为正常体重足月儿为11.00 nmol/L,早产或低体重新生儿为22.00 nmol/L。Objective To preliminarily explore the screening cut-off of congenital adrenal hyperplasia ( CAH ) in newborns of different gender, gestational age and birth weight in Xi’an. Methods A retrospective analysis of 170 949 newborns from the Xi’an Neonatal Disease Screening Center from January 2019 to December 2020 with a birth weight of 3.245±2.735 kg and a gestational age of 34.05±9.05 weeks. Among them, 2 678 cases were positive in the initial screening, 391 cases were positive in the screening, and 14 cases were confirmed. Detecting the level of 17α-OHP in heel blood with an automatic fuorescence immunoassay instrument, according to gender and gestational age and weight were divided into groups, and the differences between the groups were compared, the difference was statistically significant ( P < 0.05), and the cut-off was determined by the99th percentile. Results The 99th percentile of 17α-OHP concentration of newborns with different gender, gestational age and birth weight was between 9.40~24.47 nmol/L, and the difference between the groups was statistically significant (Z=22.50~104.31,all P=0.000). The positive rates of 17α-OHP in the initial screening and screening of newborns of different gender, gestational age and birth weight were statistically different (χ^(2)=20.578~7 152.872, all P=0.000). The gnder, gestational age and weight were negatively correlated with 17α-OHP levels, and the Beta coefficients were -0.077, -0.282 and -0.147, respectively. When the cut-off of premature or low birth weight newborns was 22.00 nmol/L, the number of positive initial screening cases decreased from 2 678 to 1 649. Conclusion The 17α-OHP levels of newborns with different gestational weeks and birth weights were different. The cut-off of 17α-OHP screening for newborns in Xi’an area should be revised to 11.00 nmol/L for normal-weight term infants and 22.00 nmol/L for premature or low-weight newborns.

关 键 词：先天性肾上腺皮质增生症 17α-羟孕酮 筛查切值 

分 类 号：R722.1[医药卫生—儿科] R446.11[医药卫生—临床医学]