2013—2020年新生儿重症监护病房罕见病现况调查

Survey of Rare Diseases in Neonatal Intensive Care Unit between 2013 to 2020

目的:评估南京医科大学附属妇产医院(我院)新生儿重症监护病房(neonatal intensive care unit,NICU)罕见病的发生情况,分析罕见病的变化趋势。方法:选取2013年1月—2020年12月我院分娩出生并在NICU治疗的危重新生儿,血、尿串联质谱筛查及基因检测明确为罕见病,用描述性研究方法对确诊患儿的疾病检出率、临床特征、基因改变及预后随访等情况进行归纳总结。结果:新生儿总量183820例,年分娩量从18863例逐年上升至26511例,年NICU住院患儿从2312例上升至2871例。共筛查出罕见病患儿34例,年罕见病检出率从0.43‰上升至4.39‰。筛查出的罕见病包括神经肌肉-骨骼疾病4例,遗传代谢性疾病18例,内分泌疾病2例,染色体缺失、异常6例,免疫系统疾病1例,其他3例。其中遗传代谢性疾病比例最高(占比约53%),其次为神经肌肉-骨骼疾病(占比约11%)。常规串联质谱筛查诊断的罕见病共15例,其余19例均是通过外显子测序技术确诊。各种罕见病具有其特异的临床表现。34例罕见病患儿中,死亡8例,18例患儿生长发育基本正常,7例患儿存在不同程度生长智力发育落后,1例失访。结论:新生儿罕见病检出率逐年上升,以常染色体遗传代谢性疾病为主,其病死及后期发育落后比例高。加强对新生儿罕见病临床认知,扩大遗传代谢病筛查范围,加强产前咨询和遗传咨询等是实现优生优育、杜绝罕见病危害的关键。

Objective:To understand the occurrence of rare diseases in the neonatal intensive care unit(NICU)of the Affiliated Maternity Hospital of Nanjing Medical University(our hospital),and judge the change trend of rare diseases.Methods:The critically ill newborns who were treated in our NICU between January 2013 and December 2020 were selected.Rare diseases were diagnosed by the tandem mass spectrometry screening of blood and urine samples,and genetic testing.The disease detection rate,clinical characteristics,genetic changes and prognostic follow-up of confirmed children were summarized by descriptive research methods.Results:The total number of newborns was 183820,the annual deliveries increased from 18863 to 26511 year by year,and NICU inpatients from 2312 to 2871.A total of 34 children with rare diseases were screened out,and the annual NICU-detection rate increased from 0.43‰to 4.39‰,showing an upward trend.Rare diseases included four neuromuscular-skeletal diseases,18 genetic metabolic diseases,two endocrine diseases,six chromosome deletions or abnormalities,one immune system diseases and three others,with the highest proportion of genetic metabolic disorders(about 53%),followed by neuromuscular-skeletal diseases(about 11%).A total of 15 cases were diagnosed by conventional tandem mass spectrometry screening,and the remaining 19 were all confirmed by the exon sequencing technology.These rare diseases have their specific clinical manifestations.Of the 34 children with rare diseases,8 children died,18 children had basically normal growth and development,7 children had backward growth and intellectual development,and one case was lost.Conclusions:In recent years,the detection rate of rare diseases in our hospital has increased year by year,mainly autosomal genetic metabolism.The proportion of mortality and late development is high.Strengthening the clinical understanding of rare diseases,expanding the scope of genetic and metabolic diseases screening,and strengthening prenatal counseling and genetic counseling are the key points of achieving prenatal and postnatal care and putting an reducing the harm of rare diseases.