Abstract: Objective To analyse congenital adrenal hyperplasia (CAH) screening results of singletons and twins newborns in Guangxi,and discover the relationship between fetus number and 17-hydroxyprogesterone(17-OHP) level. Methods Newborns born from January 2012 to June 2015 in Guangxi were screened for CAH.Time-resolved fluoroimmunoassay was used to measure blood 17-OHP level.χ² test was used to compare 17-OHP level of singletons and twins. Results In 378 252 newborns,twins were 9 464,suspected positive rate of singletons and twins was 2.85% and 0.38% respectively.Gestation age,birth weight,suspected positive rate and prevalence of singletons and twins had significant differences (P<0.01). Conclusions Positive rate and prevalence of CAH of twins are higher than singletons.One of twin is suspected positive,the other should be recalled to prevent missed diagnosis.

Key words: singletons, twins, newborn screening, congenital adrenal hyperplasia, 17-hydroxyprogesterone

摘要： 目的 分析广西地区先天性肾上腺皮质功能增生症(CAH)筛查中单胎与双胎的筛查与确诊情况,了解新生儿单双胎因素对17-羟孕酮(17-OHP)水平的影响。方法 对广西地区2012年1月-2015年6月出生的活产新生儿进行CAH筛查,采用时间分辨荧光免疫分析法测定干血片中的17-OHP水平。采用χ²检验比较单胎和双胎新生儿17-OHP水平差异。结果 在筛查的378 252例新生儿中,有双胞胎9 464例,双胎和单胎CAH初筛阳性率分别为2.85%和0.38%,单胎和双胎间孕周、出生体重、初筛阳性率、发病率均有显著性差异(P<0.01)。结论 双胎CAH初筛阳性率、发病率均高于单胎。若双胎中有一方初筛阳性,应及时召回另一方复查,避免漏诊。

关键词: 单胎, 双胎, 新生儿疾病筛查, 先天性肾上腺皮质功能增生症, 17-羟孕酮