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目的了解住院新生儿出生缺陷发生率、种类及构成比,以及遗传代谢性疾病发生率。方法对2009年01月至2009年09月间我院住院新生儿进行监测,以《北京市出生缺陷监测工作手册》中列出的23类出生缺陷的定义、临床特征及诊断标准。对高危新生儿的血液及尿液进行MS-MS及GC-MS分析,对外观畸形新生儿进行染色体核型分析等以明确遗传代谢疾病及其他遗传病。结果检出出生缺陷521例。其中先天性心脏病442例,占80.99%;遗传代谢疾病10例,占3.98%。结论加强产前咨询和围生期保健,尽早发现异常,采取措施,降低出生缺陷儿的发生率。警惕新生儿期遗传代谢疾病,加强推广新生儿筛查,以期早发现,并使他们得到进一步评估及特殊治疗。
Objective To understand the incidence of neonatal birth defects, the type and composition ratio, as well as the incidence of genetic metabolic diseases. Methods The hospitalized newborns in our hospital from January 2009 to September 2009 were monitored with the definition, clinical features and diagnostic criteria of 23 types of birth defects listed in “Handbook of Birth Defects Monitoring in Beijing”. High-risk neonatal blood and urine MS-MS and GC-MS analysis of the appearance of abnormal neonatal chromosome karyotype analysis in order to clear the genetic metabolic diseases and other genetic diseases. Results 521 cases of birth defects were detected. Among them, 442 cases of congenital heart disease, accounting for 80.99%; 10 cases of genetic metabolic diseases, accounting for 3.98%. Conclusions Strengthen prenatal counseling and perinatal care, detect anomalies as soon as possible and take measures to reduce the incidence of birth defects. Be wary of genetic metabolic diseases during the neonatal period, step up screening for newborn babies in order to detect them early and give them further assessment and special treatment.