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目的探讨将新生儿重症监护病房(NICU)收治的具有高危临床表现的新生儿作为先天性遗传代谢病(IMD)扩大筛查目标人群的可行性。方法选择本院NICU 2010年1~12月收治的高危新生儿为研究对象,应用串联质谱技术对患儿进行35种IMD筛查,分析筛查阳性率,对阳性病例进行确诊试验,并在生后2年内进行随访。统计阳性病例的确诊率(阳性预测值)和假阳性率。同时,对IMD在新生儿早期出现的临床表现进行分析。结果筛查的560例高危新生儿中阳性病例14例,阳性率2.5%,其中12例随访到生后2岁,确诊5例,确诊率(阳性预测值)41.7%,假阳性率58.3%,IMD在新生儿早期最常见的临床表现为高胆红素血症、早产/低出生体重、低血糖、体重下降明显或不增、呼吸窘迫等。结论在目前我国医疗资源尚不均衡的情况下,建议将出生后早期存在高危临床表现的新生儿作为IMD扩大筛查的目标人群,以提高患儿的检出率。
Objective To explore the feasibility of screening newborns with neonatal intensive care unit (NICU) with high-risk clinical features as an inborn hereditary metabolic disease (IMD). Methods High-risk neonates admitted to NICU in our hospital from January to December 2010 were selected as the research objects. 35 IMD screening patients were analyzed by tandem mass spectrometry, the positive rate of screening was analyzed, the positive cases were diagnosed, After 2 years follow-up. The positive rate of the positive cases (positive predictive value) and the false positive rate were statistically analyzed. At the same time, the clinical manifestations of IMD in early neonates were analyzed. RESULTS: Of the 560 high-risk neonates screened, 14 cases were positive, with a positive rate of 2.5%. Twelve of them were followed up to 2 years after birth and 5 were diagnosed. The diagnosis rate (positive predictive value) was 41.7%, false positive rate was 58.3% The most common clinical manifestations of IMD in early neonatal hyperbilirubinemia, premature birth / low birth weight, hypoglycemia, significant or no weight loss, respiratory distress and so on. Conclusion At present, China’s medical resources are not balanced, it is suggested that newborns with high-risk clinical manifestation in the early postnatal period should be taken as the target population for IMD screening to improve the detection rate of children.