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
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References
[1] 吴圣楣,陈惠金,朱建幸,等.新生儿医学[M].上海:上海科学技术出版社,2006:1001-1002.
[2] 文伟,郭萌,张琦,等.新生儿先天性肾上腺皮质增生症筛查及不同胎龄、体重新生儿血17-羟孕酮变化[J].中国实用儿科杂志,2014,29(1):39-42.
[3] 罗超,范歆,俸诗瀚,等.广西地区新生儿先天性肾上腺皮质增生症筛查切值的建立[J].中国优生与遗传杂志,2013,21(10):74-75.
[4] Ryckman KK,Cook DE,Berberich SL,et al.Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns[J].J Pediatr Endocr Met,2012,25(3-4):301-305.
[5] 中华人民共和国卫生部.新生儿疾病筛查规范[S].北京:中华人民共和国卫生部,2010.
[6] 顾学范.新生儿疾病筛查[M].上海:上海科学技术出版文献出版社,2003:192.
[7] Pitt JJ.Newborn screening[J].Clin Biochem Rev,2012,31(2):57-68.
[8] Luxenberger K,Kasper D,Frohlich-Reiterer E,et al.Diagnosis and prevalence of congenital adrenal hyperplasia(CAH) in Austrian children screened or not screened for CAH[J].International Journal of Pediatric Endocrinology,2013(Supple 1):111.
[9] Rabbani B,Mahdieh N,Ashtiani MTH,et al.Molecular diagnosis of congenital adrenal hyperplasia in Iran:focusing on CYP21A2 gene[J].Iran J Pediatr,2011,21(2):139-150.
[10] 田丽萍,卜晓萍.济南地区新生儿先天性肾上腺皮质增生症的筛查分析[J].中国妇幼保健,2012,27(11):1666-1668.
[11] Gonzalez EC,Carvajal F,Frometa A,et al.Newborn screening for congenital adrenal hyperplasia in Cuba:six years of experience[J].Clinica Chimica Acta.,2013,641:73-78.
[12] 张馨尹,陈贻骥.17-羟孕酮在新生儿CAH筛查中的诊断意义[J].儿科药学杂志,2013,19(10):56-59.
[13] 鲍培忠,叶军,韩连书,等.判别分析法在新生儿先天性肾上腺皮质功能增生症筛查中的应用[J].中华临床医师杂志:电子版,2013,7(17):7883-7886.
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