深圳市龙华区35 683例新生儿先天性肾上腺皮质增生症筛查结果(1)
【摘要】 目的：了解深圳市龙华区新生儿先天性肾上腺皮质增生症(congenital adrenocortcal hyperplasia，CAH)发病情况，为本区新生儿CAH诊断、治疗及防控提供参考依据。方法：选取2016年1月-2019年12月在深圳市龍华区妇幼保健院和深圳市龙华区人民医院产科分娩的活产新生儿35 683例，于出生72 h后采用新生儿滤纸干血片法采血，采用时间分辨荧光免疫分析法检测新生儿滤纸干血片上的血17-羟孕酮(17-OHP)浓度，对筛查阳性的新生儿召回并复查17-OHP浓度，对仍为阳性者测定血电解质、促肾上腺皮质激素(ACTH)、皮质醇及睾酮，并对检测结果进行统计分析。结果：2016-2019年参与CAH筛查32 660例，筛查率为91.53%;2016-2019年筛查率呈逐年上升趋势，且2018、2019年筛查率显著高于2016、2017年，差异有统计学意义(P<0.05);2016-2019年初筛阳性121例，初筛阳性率为0.37%;召回复查115例，召回率为95.04%;35 683例确诊CAH 1例，确诊率为0.028‰。结论：深圳市龙华区新生儿CAH筛查率处于国内中等水平，并呈逐年上升趋势，且CAH发病率低。对新生儿进行CAH筛查有利于早诊断、早干预及早治疗，对避免或减轻智力和体格发育障碍、有效提高出生人口素质具有重要意义。
【关键词】 新生儿 先天性肾上腺皮质增生症 17-羟孕酮
doi：10.14033/j.cnki.cfmr.2020.18.062 文献标识码 B 文章编号 1674-6805(2020)18-0-03
Screening Results of Congenital Adrenocortical Hyperplasia in 35 683 Newborns in Longhua District of Shenzhen/YANG Qiu’e， LUO Yuxuan， WANG Xia， ZENG Zhaohui. //Chinese and Foreign Medical Research， 2020， 18(18)： -147
[Abstract] Objective： To investigate the incidence of congenital adrenocortcal hyperplasia (CAH) in 35 683 newborns in Longhua district of Shenzhen， and to provide a reference for the diagnosis， treatment， prevention and control of CAH in the newborns in this district. Method： From January 2016 to December 2019， 35 683 live newborns were delivered in the obstetrics department of Shenzhen Longhua District Maternal and Child Health Hospital and Shenzhen Longhua District People’s Hospital. At 72 h after birth， the filter paper dried blood tablets were used for blood collection， and the concentration of 17-hydroxyprogesterone (17-OHP) on the filter paper dried blood tablets of newborns was detected by time-resolved fluorescence immunoassay. Newborns who were positive for screening were recalled and re-examined for 17-OHP concentration， and those who were still positive were tested for blood electrolytes， adrenocorticotropic hormone (ACTH)， cortisol and testosterone， and the detection results were statistically analyzed. Result： From 2016 to 2019， 32 660 newborns participated in CAH screening， and the screening rate was 91.53%. The screening rate showed an increasing trend year by year， and the screening rate in 2018 and 2019 were higher than those of 2016 and 2017， and the differences were statistically significant (P<0.05). And 121 newborns were positive for primary screening， and the positive rate was 0.37%. And 115 newborns were recalled for re-examined， and the recall rate was 95.04%. Among the 35 683 newborns， 1 newborns of CAH was diagnosed， and the diagnosis rate was 0.028‰. Conclusion： The screening rate of CAH in newborns in Longhua district of Shenzhen is at the medium level in China， and shows an increasing trend year by year， and the incidence of CAH is low. CAH screening for newborns is conducive to early diagnosis， early intervention and early treatment， which is of great significance to avoid or reduce mental and physical development disorders and effectively improve the quality of the newborn population., 百拇医药(杨秋娥 罗裕旋 王霞 曾钊辉)
【关键词】 新生儿 先天性肾上腺皮质增生症 17-羟孕酮
doi：10.14033/j.cnki.cfmr.2020.18.062 文献标识码 B 文章编号 1674-6805(2020)18-0-03
Screening Results of Congenital Adrenocortical Hyperplasia in 35 683 Newborns in Longhua District of Shenzhen/YANG Qiu’e， LUO Yuxuan， WANG Xia， ZENG Zhaohui. //Chinese and Foreign Medical Research， 2020， 18(18)： -147
[Abstract] Objective： To investigate the incidence of congenital adrenocortcal hyperplasia (CAH) in 35 683 newborns in Longhua district of Shenzhen， and to provide a reference for the diagnosis， treatment， prevention and control of CAH in the newborns in this district. Method： From January 2016 to December 2019， 35 683 live newborns were delivered in the obstetrics department of Shenzhen Longhua District Maternal and Child Health Hospital and Shenzhen Longhua District People’s Hospital. At 72 h after birth， the filter paper dried blood tablets were used for blood collection， and the concentration of 17-hydroxyprogesterone (17-OHP) on the filter paper dried blood tablets of newborns was detected by time-resolved fluorescence immunoassay. Newborns who were positive for screening were recalled and re-examined for 17-OHP concentration， and those who were still positive were tested for blood electrolytes， adrenocorticotropic hormone (ACTH)， cortisol and testosterone， and the detection results were statistically analyzed. Result： From 2016 to 2019， 32 660 newborns participated in CAH screening， and the screening rate was 91.53%. The screening rate showed an increasing trend year by year， and the screening rate in 2018 and 2019 were higher than those of 2016 and 2017， and the differences were statistically significant (P<0.05). And 121 newborns were positive for primary screening， and the positive rate was 0.37%. And 115 newborns were recalled for re-examined， and the recall rate was 95.04%. Among the 35 683 newborns， 1 newborns of CAH was diagnosed， and the diagnosis rate was 0.028‰. Conclusion： The screening rate of CAH in newborns in Longhua district of Shenzhen is at the medium level in China， and shows an increasing trend year by year， and the incidence of CAH is low. CAH screening for newborns is conducive to early diagnosis， early intervention and early treatment， which is of great significance to avoid or reduce mental and physical development disorders and effectively improve the quality of the newborn population., 百拇医药(杨秋娥 罗裕旋 王霞 曾钊辉)