广西地区单胎和双胎新生儿先天性肾上腺皮质功能增生症筛查确诊结果分析

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。

Analysis of congenital adrenal hyperplasia screening and determination in singletons and twins newborns in Guangxi

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.