目的 了解惠州市新生儿眼病的发病状况,探讨新生儿眼病筛查的临床模式。方法 回顾分析我院在2014年1月—2015年3月950例(1900只眼)高危新生儿的眼病筛查资料。结果 950例(1900只眼)新生儿中,检查出新生儿眼病10种,共200例,检出率21.05%;其中家族性渗出性视网膜病变(FEVR)5例(0.526%)、永存原始玻璃体增生症(PHPV)1例(0.105%)、先天性白内障1例(0.105%)、视网膜出血55例(5.789%)、生理性大视杯3例(0.316%)、新生儿鼻泪管阻塞5例(0.526%)、新生儿结膜炎100例(10.53%)、皮样脂肪瘤2例(0.211%)、新生儿泪囊黏液囊肿2例(0.211%)、早产儿视网膜病变26例(2.737%)。结论 新生儿眼病在临床中并不少见,而且部分眼病是可以早期筛查、早期治疗以避免盲的。

Objective To study the incidence of newborn eye diseases and to explore the clinical strategies for the screening of newborn ocular diseases. Methods A retrospective analysis was conducted on 950 newborns from January 2014 to March 2015. Results Among the 950 newborns who were enrolled the screening program,10 different eye diseases(involving 200 cases)were detected,with a prevalence of 21.05%. The eye diseases included familial exudative vitreoretinopathy in 5 cases(0.526%),persistent hyperplastic primary vitreous in 1 case(0.105%),congenital cataract in 1 case(0.105%),retinal hemorrhage in 55 cases(5.789%), physiologic large cup in 3 cases(0.316%),congenital lacrimal duct obstruction in 5 cases(0.526%),neonatal conjunctivitis in 100 cases(10.53%),dermolipoma in 2 cases(0.211%),congenital lacrimal sac mucocele in 2 cases(0.211%),retinopathy of prematurity in 26 cases(2.737%). Conclusion Neonatal eye diseases are not uncomon in clinical, and a part of the eye diseases can be early screening and early treatment to avoid blindness.

       目的   分析串联质谱技术筛查高危新生儿遗传代谢性疾病的价值。方法   于2023年1月—2024年3月，选择入住本院新生儿科的995例高危新生儿作为研究对象，采用串联质谱技术进行筛查，对筛查结果进行分析。结果   本研究期内995例新生儿初筛查阳性83例，最终确诊5例，假阳性78例，真阴性912例，阳性率8.34%（83/995），真阳性率6.02%（5/83）。确诊病例包括尿素循环障碍及高氨血症4例（其中2例经全外显子组核心家系测序分析确诊鸟氨酸氨甲酰转移酶缺乏症，基因变异来源为新发），枫糖尿症1例（基因确诊，变异来源为父亲及母亲）。结论   在高危新生儿遗传代谢疾病的筛查中，运用串联质谱技术进行筛查，及时有效进行专项检查，早期诊断遗传代谢性疾病，及时控制病情进展，降低死亡率和致残率，从而提高人口素质及生存质量，同时，对遗传代谢病的高危家庭开展咨询，指导优生优育。

       Objective  To analyze the value of tandem mass spectrometry in screening genetic metabolic diseases in high-

risk neonates．Methods  From January 2023 to March 2024，a total of 995 high-risk neonates admitted to the neonatal department of our hospital were selected as the research subjects，tandem mass spectrometry was used for screening，and the screening results were analyzed．Results  During the study period，83 of the 995 neonates were positive in the initial screening，5 cases were finally confirmed，78 cases were false positives，and 912 cases were true negatives，with a positive rate of 8.34%（83/995）and a true positive rate of 6.02%（5/83）．The confirmed cases included 4 cases of urea cycle disorder and hyperammonemia（2 cases were confirmed with ornithine carbamyltransferase deficiency by whole exome core family sequencing analysis，and the source of the gene variant was de novo），and 1 case of maple syrup urine disease（genetic diagnosis，the source of the mutation was father and mother）．Conclusions  In the screening of genetic metabolic diseases in high-risk neonates，the use of special examinations in tandem mass spectrometry can timely and effectively diagnosis genetic metabolic diseases，therefore timely control the progression of disease and reduce mortality and disability rates，consequently improve the quality of population and life．At the same time，we can provide guidance for good birth and good parenting by carrying out consultation to high-risk genetic metabolic diseases families．