【摘要】 目的了解怀化市新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)的发病率。方法选择出生72h后经充分哺乳的新生儿,采足跟血,制成干血滤纸片,应用串联质谱技术检测血片酰基肉碱水平,初筛阳性者立即召回复查,复查阳性者应用气相色谱-质谱进行尿有机酸分析及高精准度二代测序技术(NGS)以明确诊断。结果怀化市2015年3月-2017年12月共筛查新生儿79 205例,其中男性42 592例,女性36 613例,确诊SCADD患儿5例,SCADD发病率为1/15 841。结论怀化市SCADD发病率为1/15841,明显高于我国其他地区。SCADD患儿早期确诊,有效地为后续的临床治疗和遗传咨询提供依据。更多还原

【Abstract】 Objective:To study the current status of Short-chain acyl-CoA dehydrogenase deficiency(SCADD)in neonates in Huaihua. Methods:Born after 72 hours,fully breastfed infants were selected. Their heel blood was collected,and dry blood filter papers were prepared. To test blood acylcarnitine levels,tandem mass spectrometry was employed. The positive cases were recalled for reexamination,and reexamined positive neonates were subjected to gas chromatography-mass spectrometry(GC/MS)and next-generation DNA sequencing technology(NGS)for definitive diagnosis. Results:From March 2015 to December 2017,we collected 79 205(42 592 were males and 36 613 females)screening results of newborns in Huaihua,5 cases of them were diagnosed to be SCADD patients,indicating that the prevalence of SCADD is 1/15841. Conclusion:The prevalence of SCADD in Huaihua City is 1/15841,which is significantly higher than other regions of China. Early diagnosis of SCADD is beneficial for later clinical treatment and genetic counselling.更多还原