2014-2022年合肥市新生儿17α-羟孕酮筛查结果分析  

Analysis of the neonatal screening results of 17α-OHP in Hefei from 2014 to 2022

作　　者：胡海利 王燕 马庆庆 宋旺生 李辉 李卫东 HU Haili;WANG Yan;MA Qingqing;SONG Wangsheng;LI Hui;LI Weidong(The Health Center of Women and Children in Hefei,Hefei,Anhui 230092,China)

机构地区：[1]合肥市妇女儿童保健中心,安徽合肥230092

出　　处：《中国优生与遗传杂志》2023年第8期1698-1701,共4页Chinese Journal of Birth Health & Heredity

基　　金：合肥市卫健委2016年应用医学研究项目(hwk-2016yb016)。

摘　　要：目的 分析合肥市2014-2022年新生儿17α-羟孕酮(17α-OHP)筛查结果,了解本地区新生儿先天性肾上腺皮质增生症(CAH)筛查指标及发病率。方法 应用时间分辨免疫荧光法对合肥市2014年1月至2022年12月各级助产机构采集、递送至合肥市新生儿疾病筛查中心的862232份新生儿筛查样本进行17α-OHP测定,首次筛查结果17α-OHP≥30nmol/L为可疑阳性标本,召回复查后结果仍为17α-OHP≥30nmol/L为待确诊样本,由新筛中心临床医生负责召回确诊。结果 近9年合肥市共筛查新生儿862232例,总体筛查率98.43%,可疑阳性3959例,可疑阳性率0.46%,召回复查3876,召回复查率97.90%,确诊35例,CAH发病率0.041‰。发病率与西安市相比差异有统计学意义,与国内其他5个地区相比发病率差异无统计学意义。结论 合肥市近九年新生儿CAH筛查率逐步提高,可疑阳性召回率较高。通过新生儿17α-OHP指标筛查能够早期识别CAH患儿,CAH发病率与国内多数地区相比差异无统计学意义。Objective To analysis the screening results of neonatal 17α-hydroxyprogesterone from 2014 to 2022 in Hefei and know the screening indexes and morbidity of neonatal congenital adrenal hyperplasia in the region.Methods Total of 862232 neonatal screening samples were collected and delivered to Hefei Neonatal Disease Screening Center from January 2014 to December 2022,17α-OHP of the samples was determined by time-resolved immunofluorescence.The first screening result of 17α-OHP≥30 nmol/L was suspected positive.After recall and re-examination,the result of 17α-OHP≥30 nmol/L was still higher,the sample will be confirmed,and the clinician of the new screening center was responsible for recall and diagnosis.Results A total of 862232 neonates were screened in Hefei in recent 9 years,the overall screening rate was 98.43%,3959 cases were suspected positive,the suspected positive rate was 0.46%,3876 cases were recalled for re-examination,the re-examination and recall rate was 97.90%,35 cases were confirmed,and the incidence of CAH was 0.041‰.Compared with Xi’an,there was a statistically significant difference in incidence,but no statistically significant difference in incidence com-pared with other 5 regions in China.Conclusion The screening rate of neonatal CAH increased gradually in Hefei in recent nine years,and the recall rate of suspicious positive was high.Neonatal 17α-OHP screening index could be used to identify children with CAH early,and the incidence of CAH was not statistically significant compared with most regions in China.

关 键 词：先天性肾上腺皮质增生症 17α-羟孕酮 新生儿筛查 

分 类 号：R722.1[医药卫生—儿科]