1999—2018年浙江省新生儿遗传代谢病筛查情况分析

Analysis on neonatal screening for inherited metabolic diseases in Zhejiang Province from 1999 to 2018

目的评价1999—2018年浙江省新生儿遗传代谢病筛查工作质量,分析浙江省新生儿遗传代谢病流行情况,为制定出生缺陷防控政策提供依据.方法通过浙江省新生儿疾病筛查中心新生儿疾病筛查数据库收集浙江省1999—2018年新生儿遗传代谢病筛查资料,分析先天性甲状腺功能减退症(CH),苯丙酮尿症/四氢生物蝶呤缺乏症(PKU/BH4D),先天性肾上腺皮质增生症(CAH),葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)及其他氨基酸、脂肪酸、有机酸等代谢障碍疾病筛查率、患病率、可疑阳性患儿召回率、不合格血片补采率和血片迟递率等指标,评价浙江省新生儿疾病筛查质量和新生儿遗传代谢病流行情况.结果 1999—2018年浙江省共筛查新生儿10016839人,筛查率由1999年的6.46%上升至2018年的100.62%;阳性患儿召回率自2007年开始超过95%;血片不合格率控制在1%以下,2018年为0.06%;不合格血片补采率2004年开始超过99%;血片迟递率2018年下降至0.19%;采用串联质谱技术筛查的新生儿数占总筛查新生儿数的比例2018年达到92.75%.确诊新生儿遗传代谢病13664例,其中CH 6723例,PKU/BH4D 472例,CAH 125例,G6PD 5644例,其他遗传代谢病700例,患病率分别为6.71/万、0.47/万、0.38/万、22.19/万和2.13/万.CH、PKU/BH4D、G6PD及其他遗传代谢病患病率分别以丽水市、杭州市、宁波市、衢州市最高,不同地区间差异均有统计学意义(P<0.05).结论浙江省新生儿遗传代谢病筛查率、阳性患儿召回率、不合格血片补采率及串联质谱技术筛查率较高,血片不合格率和迟递率稳定在较低水平;CH患病率高于全国水平,PKU/BH4D患病率低于全国水平.

Objective To evaluate the quality of neonatal screening work for inherited metabolic diseases,to learn the incidence of inherited metabolic diseases in newborns in Zhejiang Province from 1999 to 2018,and to provide scientific basis for formulating policies for control of birth defects. Methods The neonatal screening data for inherited metabolic diseases in Zhejiang Province from 1999 to 2018 were collected from the neonatal disease screening database of Zhejiang Neonatal Disease Screening Center,including congenital hypothyroidism(CH),phenylketonuria/tetrahydrobiopterin deficiency(PKU/BH4 D),congenital adrenal hyperplasia(CAH),glucose-6-phosphate dehydrogenase deficiency(G6 PD) and other metabolic disorders. The related indicators,such as the screening rate,prevalence rate,recall rate for suspected positive cases,resample rate of unqualified blood slides and rate of delayed blood slides delivery,were calculated to assess the quality of neonatal screening and understand the epidemic situation of inherited metabolic diseases in Zhejiang Province. Results A total of 10 016 839 newborns were screened and the rate rised from 6.46% in 1999 to 100.62% in 2018. The recall rate for suspected positive cases had exceeded95% since 2007. The rate of unqualified blood tablets was under 1%(0.06% in 2018);the resample rate of unqualified blood slides had exceeded 99% since 2004;the rate of delayed blood slides delivery dropped to 0.19% in 2018. The proportion of newborns screened by tandem mass spectrometry reached 92.75% in 2018. There were 13 664 cases of inherited metabolic diseases confirmed,with 6 723 cases of CH(6.71/10 000),472 cases of PKU/BH4 D(0.47/10 000),125 cases of CAH(0.38/10 000),5 644 cases of G6 PD(22.19/10 000) and 700 cases of other metabolic disorders(2.13/10 000). The highest prevalence rate of CH, PKU/BH4 D, G6 PD and other metabolic disorders lay in Lishui, Hangzhou, Ningbo and Quzhou,respectively, which was significantly different in cities(P <0.05). Conclusion The neonatal screening rate for inherited metabolic diseases,recall rate for suspected positive cases and resample rate of unqualified blood slides are high,while the rate of unqualified blood slides and delayed blood slides delivery have been kept low in Zhejiang Province. The prevalence of CH is above and PKU/BH4 D is below the national average.