宁夏地区新生儿先天性肾上腺皮质增生症筛查切值确立初探

Preliminary study on screening of neonatal congenital adrenal hyperplasia in Ningxia

目的了解宁夏地区新生儿17-羟孕桐(17-OHP)水平与不同胎龄、体重的关系,制定适宜切值,减少假阳性。方法对宁夏新生儿疾病筛查中心采集并筛查的有完整信息的185 748例新生儿17-OHP水平的筛查结果用百分位数法进行分析,以P99确定切值。结果相对于体重,新生儿孕周与17-OHP水平相关性最大,并呈负相关性,故应增设早产儿相应的切值。结论在宁夏地区新生儿先天性肾上腺皮质增生症(CAH)筛查中,足月儿与早产儿的17-OHP应采取不同切值,足月儿(≥37周)17-OHP初筛值建议设为30.0 nmol/L,早产儿(<37周)初筛值建议设为57.0 nmol/L。

Objective To understand the relationship between 17 -OHP levels and gestational age,body weight of neonatus in Ningxia in order to establish appropriate cut value and reduce false positive rate. Methods 185748 cases of neonatal screening in Ningx- ia neonatal screening center with complete information collection and 17 - OHP level were analyzed by percentile method and determine the cut - off value of P99. Results Compared to body weight, the correlation between gestational week and 17 - OHP level was the most significant and negative correlation. Conclusions In the neonatal CAH screening in the Ningxia, 17 - OHP value of full term infants and premature infants should be different, 17 - OHP screening recommended value is 30.0nmol/L in full - term infants （ ≥ 37 w）. The screening recommended value is set to 57.0 nmol/L in preterm infants（ 〈 37 w） .